Original Article
Mutations in the Gene for Cardiac Myosin-Binding Protein C and Late-Onset Familial Hypertrophic Cardiomyopathy
N Engl J Med 1998; 338:1248-1257April 30, 1998
- Abstract
Background
Mutations in the gene for cardiac myosin-binding protein C account for approximately 15 percent of cases of familial hypertrophic cardiomyopathy. The spectrum of disease-causing mutations and the associated clinical features of these gene defects are unknown.
Methods
DNA sequences encoding cardiac myosin-binding protein C were determined in unrelated patients with familial hypertrophic cardiomyopathy. Mutations were found in 16 probands, who had 574 family members at risk of inheriting these defects. The genotypes of these family members were determined, and the clinical status of 212 family members with mutations in the gene for cardiac myosin-binding protein C was assessed.
Results
Twelve novel mutations were identified in probands from 16 families. Four were missense mutations; eight defects (insertions, deletions, and splice mutations) were predicted to truncate cardiac myosin-binding protein C. The clinical expression of either missense or truncation mutations was similar to that observed for other genetic causes of hypertrophic cardiomyopathy, but the age at onset of the disease differed markedly. Only 58 percent of adults under the age of 50 years who had a mutation in the cardiac myosin-binding protein C gene (68 of 117 patients) had cardiac hypertrophy; disease penetrance remained incomplete through the age of 60 years. Survival was generally better than that observed among patients with hypertrophic cardiomyopathy caused by other mutations in the genes for sarcomere proteins. Most deaths due to cardiac causes in these families occurred suddenly.
Conclusions
The clinical expression of mutations in the gene for cardiac myosin-binding protein C is often delayed until middle age or old age. Delayed expression of cardiac hypertrophy and a favorable clinical course may hinder recognition of the heritable nature of mutations in the cardiac myosin-binding protein C gene. Clinical screening in adult life may be warranted for members of families characterized by hypertrophic cardiomyopathy.
Media in This Article
Figure 1
The Human Cardiac Myosin-Binding Protein C Polypeptide and Gene and 12 Mutations Causing Familial Hypertrophic Cardiomyopathy.Figure 4
Kaplan–Meier Survival Curves for Persons with Familial Hypertrophic Cardiomyopathy Caused by Cardiac Myosin-Binding Protein C Mutations.Article Activity
- Article
Hypertrophic cardiomyopathy, a disorder occurring in approximately 1 of every 500 people, causes a broad spectrum of pathological findings and clinical manifestations.1,2 Early observations2,3 emphasized the morphologic features of this disease (e.g., marked septal hypertrophy and subaortic obstruction) and its unfavorable natural history (e.g., progressive symptoms, serious arrhythmias, heart failure, and sudden death). Today the anatomical and clinical expression of the disease is recognized to encompass a wider range of phenotypes, including mild or focal hypertrophy, limited symptoms, and a good prognosis.
Molecular genetic studies of familial hypertrophic cardiomyopathy have demonstrated that this autosomal dominant condition is caused by mutations in the genes encoding sarcomere proteins.4-7 More than 100 different disease-causing mutations have been identified in components of the thick filaments (e.g., cardiac β-myosin heavy chain and ventricular essential and regulatory myosin light chains), components of the thin filaments (cardiac troponin T, troponin I, and α-tropomyosin), and cardiac myosin-binding protein C. Analyses of the clinical consequences of these distinct genetic defects have focused largely on particularly severe manifestations of disease: the early onset of marked hypertrophy (associated with defects in the gene for cardiac β-myosin heavy chain) and poor survival (associated with some mutations, termed “malignant,” in the gene for cardiac β-myosin heavy chain and most mutations in the gene for cardiac troponin T 8-11).
Genetic linkage analyses indicate that 15 percent of cases of hypertrophic cardiomyopathy are due to a mutation on chromosome 11p11.2, where the cardiac myosin-binding protein C gene is encoded.6,7,12 By binding to myosin heavy chain and the cytoskeleton protein titin, cardiac myosin-binding protein C contributes to the structural integrity of the sarcomere13-16; it may also regulate cardiac contractility in response to adrenergic stimulation.17
The 1274 amino acid residues in human cardiac myosin-binding protein C are encoded by 24,000 base pairs, organized into at least 37 exons.18 This structure has hindered comprehensive screening for disease-causing mutations; hence, the clinical consequences of such defects are largely unknown. The recent definition of the gene structure by us (unpublished data) and others19 has permitted the use of automated DNA sequencing as a direct approach to the identification of mutations that cause hypertrophic cardiomyopathy. In this article we report 12 novel mutations in the gene for cardiac myosin-binding protein C that have caused hypertrophic cardiomyopathy in 16 families.
These studies indicate that patients with cardiac myosin-binding protein C gene mutations have a unique and favorable clinical profile, characterized by late-onset hypertrophic cardiomyopathy and a good prognosis. We suggest that the development of cardiac hypertrophy in middle-aged or elderly persons may indicate the presence of an inherited defect in the gene for cardiac myosin-binding protein C.
Methods
Clinical Evaluation
Informed consent was obtained from all participants in accordance with the requirements of the human-research committees of participating centers (Brigham and Women's Hospital, Boston; Baylor College of Medicine, Houston; Toronto General Hospital, Toronto; the University of Manitoba, Winnipeg; St. George's Hospital Medical School, London; and the Minneapolis Heart Institute Foundation, Minneapolis). Probands had been given a diagnosis of familial hypertrophic cardiomyopathy (left-ventricular-wall thickness, >13 mm in the absence of a confounding diagnosis), as described previously,8,11 without prior knowledge of their genotype. Family members found to have a cardiac myosin-binding protein C mutation were also evaluated clinically. Mutations in adults 20 years of age or older who had a maximal left-ventricular-wall thickness of less than 13 mm or in children or adolescents (age, <20 years) with normal ventricular-wall thickness for body-surface area were considered nonpenetrant. The results in patients with cardiac hypertrophy and confounding diagnoses (such as systemic hypertension) were considered indeterminate. Deaths of patients who participated in genetic studies and deaths of obligate carriers were classified as noncardiac, as related to the disease, or as sudden, as described previously.8 Study families were denoted by sequential letters of the alphabet or numbers.
Analyses of Disease Penetrance and Survival
Disease penetrance (with disease defined by a ventricular-wall thickness greater than 13 mm) in patients with mutations in the cardiac myosin-binding protein C gene was compared with disease penetrance in patients with representative mutations in the genes for β-myosin heavy chain11,20 and cardiac troponin T,8 at different ages. Differences between the mean values for maximal left-ventricular-wall thickness were compared, and two-tailed P values were calculated with Student's t-test with use of Statview software (Abacus Concepts, Berkeley, Calif.).
Kaplan–Meier product-limit survival curves were constructed and compared according to the log-rank method, as described previously.8,21,22
Genetic Studies
Two genomic clones containing the 5
or 3
Three EcoRI–BamHI fragments and one BamHI fragment were subcloned from P1 DNA. The nucleotide sequences of these subclones were determined with the Sequenase version 2.0 DNA-sequencing kit (United States Biochemical, Cleveland), an ABI PRISM dye-terminator cycle-sequencing kit (Perkin–Elmer, Foster City, Calif.), or both. Intron–exon boundaries were ascertained by comparison of genomic and cDNA sequences.18 The entire sequence of cardiac myosin-binding protein C was entered into the GenBank data base (accession no. U91629).
Identification of Mutations in the Cardiac Myosin-Binding Protein C Gene
We obtained 5 to 30 ml of peripheral blood from each proband; DNA was isolated as previously described.10 Exons 2 through 35, which encode protein sequences, were amplified from genomic DNA with use of primers designed from intron sequences (available on the Internet at http://genetics.med.harvard.edu/~seidman). Genomic DNA fragments amplified with the polymerase chain reaction (PCR) were purified with the QIAquick PCR Purification kit (QIAGEN, Santa Clarita, Calif.) to remove the residual primers and sequenced with the ABI PRISM dye-terminator cycle-sequencing kit (Perkin–Elmer).
Confirmation of Mutations and Family Genotyping
Variants in cardiac myosin-binding protein C sequences were independently confirmed in DNA samples from probands by restriction-enzyme digestion, oligonucleotide-specific hybridization, or the amplification refractory mutation system. The same method was then used to determine the genotype (i.e., the presence or absence of the sequence variant) in DNA from family members of the probands and in normal controls (with use of primers and oligonucleotides shown at http://www.genetics/med.harvard.edu/~seidman. ).
Restriction-Enzyme Digestion
Seven sequence variants (Table 1Table 1
Missense Mutations in Cardiac Myosin-Binding Protein C That Cause Familial Hypertrophic Cardiomyopathy. and Table 2Table 2
Truncation Mutations in Cardiac Myosin-Binding Protein C That Cause Familial Hypertrophic Cardiomyopathy.) predicted to alter a restriction-enzyme site were confirmed by PCR amplification of exons, digestion, and size fractionation on a 3 percent NuSieve–1 percent agarose gel. Mutations Glu258Lys (in Family BM) and Int24DSG+1T (Family BO) abolish HphI sites. Mutations Int8DSG+1A (Family DP), Arg495Gln (Family DQ), Arg502Gln (Family BD and Family XX), and Int33DSG+1A (Family CT) abolish a BsaAI, SmaI, HpaII, and StyI site, respectively. Mutation Glu451Gln (Family D) creates an MaeII site.Oligonucleotide-Specific Hybridization
Four sequence variants (Int12ASA-2G in Families I and R; DelC698 in Family BK; InsG791 in Families 153, BL, and BW; and DelCT955 in Family 262) (Table 1 and Table 2) were confirmed by PCR amplification of exons and oligonucleotide-specific hybridization as described elsewhere.24 Amplified products were transferred to two nylon membranes (GeneScreen Plus, NEN Life Science Products, Boston) and hybridized separately with 32P-labeled wild-type or mutant oligonucleotides. The hybridized nylon membranes were washed in 6× saline sodium citrate (SSC) (1× SSC is 0.15 M sodium chloride and 0.015 M sodium citrate) and 0.05 percent sodium pyrophosphate for 60 minutes at 48°C (or 30 minutes at 61°C, in the case of mutation DelC698), and the hybridization signal was quantified with a PhosphorImager (Molecular Dynamics, Sunnyvale, Calif.).
Analyses of Cardiac Myosin-Binding Protein C in Lymphocyte RNA
Cardiac myosin-binding protein C sequences were amplified from lymphocyte RNA with two rounds of PCR amplification, as described previously.27 Normal and mutant products were size-fractionated on a 3 percent NuSieve–1 percent agarose gel, purified, and sequenced.
Results
Genetic Studies
DNA samples from 29 unrelated patients with familial hypertrophic cardiomyopathy were studied. Previous screening of the β-myosin heavy-chain and cardiac troponin T genes had failed to identify a disease-causing mutation in 17 of these samples (unpublished data). Linkage studies had indicated that hypertrophic cardiomyopathy was due to a mutation of chromosome 11 in Families 153 and D (maximal lod scores of 7.12 and 2.1, respectively).
Protein-encoding sequences of the gene for cardiac myosin-binding protein C were determined in DNA samples from 29 probands. Twelve sequence variants (Figure 1Figure 1
The Human Cardiac Myosin-Binding Protein C Polypeptide and Gene and 12 Mutations Causing Familial Hypertrophic Cardiomyopathy.) were identified in 16 samples; three were shared by probands from different families. Each sequence variant was independently confirmed by restriction-enzyme analyses, by oligonucleotide-specific hybridization, or with the amplification refractory mutation system. These techniques were then used to determine the genotypes of family members (Figure 2Figure 2
Pedigrees of 16 Families with Hypertrophic Cardiomyopathy Caused by Cardiac Myosin-Binding Protein C Mutations.). Because each of these sequence variants was found in clinically affected patients but was absent in more than 200 chromosomes from normal controls (data not shown) and was predicted to alter the encoded protein, all were considered mutations that caused familial hypertrophic cardiomyopathy.Four point mutations (Glu258Lys, Glu451Gln, Arg495Gln, and Arg502Gln; Table 1), identified in five families, were predicted to be missense mutations and to alter one amino acid in cardiac myosin-binding protein C. These four mutations are clustered in a 244-amino-acid segment that spans the phosphorylation domain of the molecule. The proximity of two of the point mutations (Glu258Lys and Glu451Gln) to splice signals might also alter RNA splicing. To examine this possibility, cardiac myosin-binding protein C cDNA was amplified by reverse-transcription PCR from samples derived from two affected persons in Family D. Four amplified cDNA products were gel-purified and sequenced (data not shown). Two products varied only at residue 1383 (guanine or cytosine), corresponding to the wild-type transcript and a transcript encoding a Glu451Gln missense mutation. Two products resulted from aberrant RNA splicing: one contained sequences in intron 16 that would encode five novel amino acids followed by a premature termination signal. The other product deleted 40 nucleotides by juxtaposing residues 1343 and 1384, thereby encoding 14 novel amino acids followed by a premature termination signal.
Eight mutations (Table 2), identified in 11 families, were predicted to truncate the encoded cardiac myosin-binding protein C. Four defects (Int8DSG+1A, Int12ASA-2G, Int24DSG+1T, and Int33DSG+1A) occur in donor or acceptor splice sequences. Cardiac myosin-binding protein C RNA was aberrantly spliced in lymphocytes derived from persons with the Int12ASA-2G, Int24DSG+1T, or Int33DSG+1A mutation (data not shown); lymphocytes were not available for analyses of the Int8DSG+1A defect. Two mutations identified in exon 25 (InsG791) and exon 30 (InsAA1042) were insertions of a single base pair and two base pairs, respectively. Deletions of one and two nucleotides in exon 23 (DelC698) and exon 28 (DelCT955) were also detected. Although the specific changes resulting from these defects varied, each caused a frame shift in the corresponding RNA, which encoded novel amino acids and a premature termination signal. Carboxyl amino acids, which are required for the incorporation of cardiac myosin-binding protein C into sarcomere A bands, titin interaction, and myosin binding,14,15 are predicted to be absent or mutated in each of these eight defects.
Several families shared the same mutation causing hypertrophic cardiomyopathy. Affected members of Families 153, BL, and BW shared a single base-pair insertion (InsG791); affected members of Families I and R shared an adenosine-to-guanine transversion in intron 12 (Int12ASA-2G), which alters RNA splicing. A common disease haplotype was present in affected persons (data not shown), indicating that a founding mutation caused hypertrophic cardiomyopathy, in Families 153, BL, and BW, as well as in Families I and R. In contrast, the Arg502Gln defect in Families BD and XX arose on different haplotypes, indicating that independent mutation events occurred in these families.
Three marriages occurred between related persons with identical cardiac myosin-binding protein C mutations. Genotypes of the offspring of Subjects III-27 and III-28 (in Family 153), Subjects IV-69 and IV-70 (in Family 153), and Subjects III-12 and III-13 (in Family I) demonstrated no homozygosity for any of these mutations (Figure 2).
Clinical Features of Cardiac Myosin-Binding Protein C Mutations
Genotyping of 574 family members at risk of inheriting the mutations causing hypertrophic cardiomyopathy identified the defect in 212 persons. Genetic studies confirmed previously recognized clinical disease in 8 children and adolescents (age, <20 years) and 113 adult patients (>20 years). The extent and distribution of clinical symptoms and signs of cardiac hypertrophy in these patients appeared similar to those observed in patients with other mutations causing hypertrophic cardiomyopathy (data not shown).
Cardiac myosin-binding protein C mutations were also identified in samples from 91 family members who had no clinical manifestations of hypertrophic cardiomyopathy. Thirty-eight were less than 20 years of age, but surprisingly, 53 adults did not fulfill the diagnostic criteria for affected status (Table 1 and Table 2). To determine whether the penetrance of cardiac myosin-binding protein C mutations remained low throughout life, we assessed the presence of cardiac hypertrophy in genetically affected persons in different decades of life (Figure 3Figure 3
Age-Related Penetrance of Familial Hypertrophic Cardiomyopathy Caused by Mutations in the Genes for Cardiac Myosin-Binding Protein C, Cardiac Troponin T, and Cardiac β-Myosin Heavy Chain.). As previously observed, hypertrophy caused by cardiac β-myosin heavy-chain or cardiac troponin T mutations was more often found in adults than in teenagers or children. However, only 60 percent of persons with cardiac myosin-binding protein C gene defects had hypertrophy, as compared with nearly 100 percent of those with either cardiac β-myosin heavy-chain or cardiac troponin T mutations (Figure 3). That is, cardiac myosin-binding protein C gene defects caused disease later than mutations in either cardiac β-myosin heavy-chain or cardiac troponin T. Disease penetrance of cardiac myosin-binding protein C defects remained incomplete through the fifth decade of life (Figure 3).Deaths from cardiac causes were documented in 36 of 281 persons with a cardiac myosin-binding protein C defect; 34 of these deaths were sudden, and death frequently occurred during vigorous exercise. The incidence of sudden death among persons with cardiac myosin-binding protein C mutations was similar to that observed among persons with six mutations in cardiac troponin T (39 sudden deaths and 50 deaths from cardiac causes). However, life expectancy (assessed using Kaplan–Meier product-limit survival curves, Figure 4Figure 4
Kaplan–Meier Survival Curves for Persons with Familial Hypertrophic Cardiomyopathy Caused by Cardiac Myosin-Binding Protein C Mutations.) among persons with hypertrophic cardiomyopathy caused by truncation and missense mutations in the gene for cardiac myosin-binding protein C was longer than that observed among persons with either cardiac troponin T or malignant cardiac β-myosin heavy-chain mutations (P<0.001).8,21 Discussion
We determined the clinical consequences of 12 novel mutations in the gene for cardiac myosin-binding protein C that cause familial hypertrophic cardiomyopathy. Although the cardiac phenotypes resulting from these defects resembled those produced by other mutations in genes for sarcomere proteins, important differences were also observed. All cardiac myosin-binding protein C mutations exhibited reduced penetrance until the fifth decade of life, whereas hypertrophic cardiomyopathy caused by mutations in other genes are almost completely penetrant by the second or third decade (Figure 4). Furthermore, survival of patients with cardiac myosin-binding protein C mutations was better than that observed with cardiac troponin T mutations or malignant cardiac β-myosin heavy-chain mutations. Collectively, these data indicate that cardiac myosin-binding protein C mutations account for the milder forms of hypertrophic cardiomyopathy in many patients with the disease.
A comparison of the clinical phenotype and genetic status of 16 families (Figure 2) demonstrated that many young and middle-aged persons with a mutation in the gene for cardiac myosin-binding protein C had neither signs nor symptoms of disease. Although it is possible that some of these mutations will remain nonpenetrant throughout life, pedigree analyses indicate concordance between genotype and phenotype in the oldest members of each family. We therefore hypothesize that disease penetrance among persons with cardiac myosin-binding protein C defects increases with age.
Although it is often considered a disease of the young, hypertrophic cardiomyopathy is also diagnosed in the elderly. Older patients with hypertrophic cardiomyopathy present with typical manifestations of disease, including dyspnea, angina, and syncope, but often these symptoms are attributed to other disorders, such as coronary disease, valvular heart disease, and hypertension, that become more common with increasing age.27,28 The echocardiographic findings characteristic of hypertrophic cardiomyopathy in the elderly (e.g., increased wall thickness, decreased left-ventricular-cavity size, and supranormal systolic function) can be similar to those reported in young patients, but some morphologic differences (e.g., septal curvature and distortion of the left ventricular outflow tract) have also been observed.29-31 Because few data are available from detailed family studies of hypertrophic cardiomyopathy in the elderly, it is not known whether this disease has a genetic cause. Given the natural history and clinical manifestations of cardiomyopathy caused by cardiac myosin-binding protein C mutations, some cases of hypertrophic cardiomyopathy in the elderly are probably inherited and caused by mutations in this sarcomere-protein gene.
Cardiac myosin-binding protein C is an abundant myofibrillar protein that does not directly participate in force generation but has unique functions within the sarcomere. Expression of the protein during embryogenesis corresponds to the appearance of cross-striations,32 implying a developmental role in thick-filament alignment. The 372-amino-acid carboxyl residues of the protein are required for incorporation into A-band thick filaments,15 where the peptide binds myosin heavy chain and titin. Eight defects reported here (Table 2) and several reported previously 6,7,19,33 are splice-site mutations, insertions, and deletions. These defects are predicted to encode truncated peptides, which may be unable to be incorporated into sarcomere A-bands. The resulting insufficiency of cardiac myosin-binding protein C could impair the structural integration of the contractile unit with the myocyte cytoskeleton. This model further implies that complete lack of the protein could be lethal, thereby providing one explanation for the absence of homozygous mutations in any offspring of three consanguineous marriages.
Cardiac myosin-binding protein C also regulates contraction, by stimulating actin-activated cardiac myosin ATPase13,17 and by influencing myofibril tension generation and contractile velocity.34 Phosphorylation of cardiac myosin-binding protein C by a catecholamine-sensitive pathway17 may provide dynamic regulation of these processes. Four novel missense mutations (Table 1) and one previously reported mutation19 are clustered in sequences flanking the phosphorylation domain (Figure 1). These missense mutations are likely to act through a dominant negative mechanism, similar to that caused by defects in cardiac β-myosin heavy chain35,36 or cardiac troponin T.37 (Given the proximity of mutations Gly258Lys and Arg502Gln to RNA splice signals, these mutations may also encode truncated proteins.) If dominant negative mutations adversely affect the phosphorylation of cardiac myosin-binding protein C, sarcomere function could be particularly impaired during states of heightened adrenergic tone. We observed a higher incidence of sudden death in some families with missense mutations; many of these events occurred during heavy exertion. A better understanding of adrenergic regulation of the function of cardiac myosin-binding protein C may provide insights that are relevant for the development of genotype-selective therapies for this disorder.
The distinct consequences of cardiac myosin-binding protein C mutations further define the broad clinical spectrum of hypertrophic cardiomyopathy. Other mutations in sarcomere-protein genes are often silent during childhood38,39 but produce clinically important disease early in adult life. In contrast, the effects of mutations in the cardiac myosin-binding protein C gene are often subclinical until middle age and beyond. We speculate that the delayed penetrance of cardiac myosin-binding protein C mutations, combined with the good survival of patients with hypertrophic cardiomyopathy caused by the mutations, has made estimates of the incidence of these gene defects in the population relatively inaccurate. Whether aging, alone or in conjunction with other factors, causes the phenotypic expression of cardiac myosin-binding protein C mutations will require further study. Our results indicate that clinical screening of persons at risk for hypertrophic cardiomyopathy should be continued throughout adult life. Furthermore, one cause of late-onset disease is a heritable gene defect, a fact that should prompt evaluations of family members of affected patients.
Supported by grants from the Howard Hughes Medical Institutes (to Drs. Niimura, Seidman, and Seidman), the National Institutes of Health (Specialized Centers P50: HL54313-01 to Drs. Bachinski and Roberts), the Heart and Stroke Foundation of Ontario (to Drs. Elstein, Sole, Liew, Mably, Rakowski, Liew, and Zhao), and the British Heart Foundation (to Drs. Watkins and McKenna), and by a Rotary Foundation Ambassadorial Scholarship (to Dr. Niimura).
We are indebted to the study families and their physicians for their participation, and to Rita Hill, R.N., Grazyna Z. Czernuszewicz, M.S., and Mohammed Miri for their assistance.
Source Information
From the Howard Hughes Medical Institute and the Department of Genetics, Harvard Medical School, Boston (H.N., S.S., J.G.S.); the First Department of Internal Medicine, Kagoshima University, Kagoshima, Japan (H.N.); the Molecular Cardiology Unit, Department of Medicine, Baylor College of Medicine, Houston (L.L.B., R.R.); the University of Oxford, Oxford, United Kingdom (H.W.); the Departments of Pediatrics and Human Genetics, University of Manitoba, and the Section of Genetics and Metabolism, Children's Hospital — both in Winnipeg, Canada (A.E.C.); the Department of Cardiological Sciences, St. George's Hospital Medical School, London (W.M.); the Department of Medicine, University Hospital, Reykjavik, Iceland (A.K.); the Center for Cardiovascular Research, Toronto Hospital, University of Toronto, Toronto (M.S.); the Cardiovascular Research Division, Minneapolis Heart Institute Foundation, Minneapolis (B.J.M.); and Howard Hughes Medical Institute and the Cardiovascular Division, Brigham and Women's Hospital, Boston (C.E.S.).
Address reprint requests to Dr. Christine Seidman at the Department of Genetics, Alpert Rm. 533, Harvard Medical School, 200 Longwood Ave., Boston, MA 02115.
Other authors were Ludwig Thierfelder, M.D., Max Delbruck Center for Molecular Medicine, Berlin-Buch, Germany; John A. Jarcho, M.D., Cardiovascular Division, Brigham and Women's Hospital, Boston; Aris Anastasakis, M.D., and Pavlos Toutouzas, M.D., Department of Cardiology, University of Athens, Hippokration Hospital, Athens, Greece; Eleanor Elstein, M.D., Center for Cardiovascular Research, Toronto Hospital, University of Toronto, Toronto, and Division of Cardiology, Royal Victoria Hospital, Montreal; Choong-Chin Liew, Ph.D., Jack Liew, Ph.D., John Mably, Ph.D., Harry Rakowski, M.D., E. Douglas Wigle, M.D., and Minshun Zhao, Ph.D., Center for Cardiovascular Research, Toronto Hospital, University of Toronto, Toronto; Rosemarie Salerni, M.D., University of Pittsburgh–Veterans Affairs Medical Center, Pittsburgh; and Halldora Bjornsdottir, M.D., Division of Cardiology, University Hospital, Reykjavik, Iceland.
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Citing Articles
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Jeffrey A. Towbin. 2012. Cardiomyopathies. , 826-854.
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Haruna Otsuka, Takuro Arimura, Tadaaki Abe, Hiroya Kawai, Yoshiyasu Aizawa, Toru Kubo, Hiroaki Kitaoka, Hiroshi Nakamura, Kazufumi Nakamura, Hiroshi Okamoto, Fukiko Ichida, Mamoru Ayusawa, Shinichi Nunoda, Mitsuaki Isobe, Masunori Matsuzaki, Yoshinori L. Doi, Keiichi Fukuda, Taishi Sasaoka, Toru Izumi, Naoto Ashizawa, Akinori Kimura. (2012) Prevalence and Distribution of Sarcomeric Gene Mutations in Japanese Patients With Familial Hypertrophic Cardiomyopathy. Circulation Journal 76:2, 453-461
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Murali D. Bashyam, Guroji Purushotham, Ajay K. Chaudhary, Katika Madhumohan Rao, Vishal Acharya, Tabrez A. Mohammad, Hampapathalu A. Nagarajaram, Vuppaladadhiam Hariram, Calambur Narasimhan. (2012) A low prevalence of MYH7/MYBPC3 mutations among Familial Hypertrophic Cardiomyopathy patients in India. Molecular and Cellular Biochemistry 360:1-2, 373-382
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Ralph Knöll. (2011) Myosin binding protein C: implications for signal-transduction. Journal of Muscle Research and Cell Motility
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Moira Kessler, Sara Saberi, Sharlene Day, Tamara Gay, Linda Baty, C. Edward Deneke. 2011. Hypertrophic Cardiomopathy. , 106-115.
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Barry J. Maron, Tammy S. Haas, Carrie Kitner, John R. Lesser. (2011) Onset of Apical Hypertrophic Cardiomyopathy in Adulthood. The American Journal of Cardiology 108:12, 1783-1787
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Bernard J. Gersh, Barry J. Maron, Robert O. Bonow, Joseph A. Dearani, Michael A. Fifer, Mark S. Link, Srihari S. Naidu, Rick A. Nishimura, Steve R. Ommen, Harry Rakowski, Christine E. Seidman, Jeffrey A. Towbin, James E. Udelson, Clyde W. Yancy, Alice K. Jacobs, Sidney C. Smith, Jeffrey L. Anderson, Nancy M. Albert, Christopher E. Buller, Mark A. Creager, Steven M. Ettinger, Robert A. Guyton, Jonathan L. Halperin, Judith S. Hochman, Harlan M. Krumholz, Frederick G. Kushner, Rick A. Nishimura, E. Magnus Ohman, Richard L. Page, William G. Stevenson, Lynn G. Tarkington, Clyde W. Yancy. (2011) 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy. The Journal of Thoracic and Cardiovascular Surgery 142:6, e153-e203
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Bernard J. Gersh, Barry J. Maron, Robert O. Bonow, Joseph A. Dearani, Michael A. Fifer, Mark S. Link, Srihari S. Naidu, Rick A. Nishimura, Steve R. Ommen, Harry Rakowski, Christine E. Seidman, Jeffrey A. Towbin, James E. Udelson, Clyde W. Yancy, Alice K. Jacobs, Sidney C. Smith, Jeffrey L. Anderson, Nancy M. Albert, Christopher E. Buller, Mark A. Creager, Steven M. Ettinger, Robert A. Guyton, Jonathan L. Halperin, Judith S. Hochman, Harlan M. Krumholz, Frederick G. Kushner, Rick A. Nishimura, E. Magnus Ohman, Richard L. Page, William G. Stevenson, Lynn G. Tarkington, Clyde W. Yancy. (2011) 2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: Executive summary. The Journal of Thoracic and Cardiovascular Surgery 142:6, 1303-1338
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Bernard J. Gersh, Barry J. Maron, Robert O. Bonow, Joseph A. Dearani, Michael A. Fifer, Mark S. Link, Srihari S. Naidu, Rick A. Nishimura, Steve R. Ommen, Harry Rakowski, Christine E. Seidman, Jeffrey A. Towbin, James E. Udelson, Clyde W. Yancy. (2011) 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology 58:25, e212-e260
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Bernard J. Gersh, Barry J. Maron, Robert O. Bonow, Joseph A. Dearani, Michael A. Fifer, Mark S. Link, Srihari S. Naidu, Rick A. Nishimura, Steve R. Ommen, Harry Rakowski, Christine E. Seidman, Jeffrey A. Towbin, James E. Udelson, Clyde W. Yancy. (2011) 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary. Journal of the American College of Cardiology 58:25, 2703-2738
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Steve R. Ommen. (2011) Hypertrophic Cardiomyopathy. Current Problems in Cardiology 36:11, 409-453
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Snigdha Tripathi, Imke Schultz, Edgar Becker, Judith Montag, Bianca Borchert, Antonio Francino, Francisco Navarro-Lopez, Andreas Perrot, Cemil Özcelik, Karl-Josef Osterziel, William J. McKenna, Bernhard Brenner, Theresia Kraft. (2011) Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy. Basic Research in Cardiology 106:6, 1041-1055
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P. A. van der Zwaag, J. P. van Tintelen. (2011) Counsel the genotype, treat the phenotype. European Journal of Heart Failure 13:11, 1159-1160
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S. Waldmuller, J. Erdmann, P. Binner, G. Gelbrich, S. Pankuweit, C. Geier, B. Timmermann, J. Haremza, A. Perrot, S. Scheer, R. Wachter, N. Schulze-Waltrup, A. Dermintzoglou, J. Schonberger, W. Zeh, B. Jurmann, T. Brodherr, J. Borgel, M. Farr, H. Milting, W. Blankenfeldt, R. Reinhardt, C. Ozcelik, K.-J. Osterziel, M. Loeffler, B. Maisch, V. Regitz-Zagrosek, H. Schunkert, T. Scheffold, . (2011) Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure. European Journal of Heart Failure 13:11, 1185-1192
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Eline A. Nannenberg, Michelle Michels, Imke Christiaans, Danielle Majoor-Krakauer, Yvonne M. Hoedemaekers, J. Peter van Tintelen, M. Paola Lombardi, Folkert J. ten Cate, Arend F.L. Schinkel, Jan G.P. Tijssen, Irene M. van Langen, Arthur A.M. Wilde, Eric J.G. Sijbrands. (2011) Mortality Risk of Untreated Myosin-Binding Protein C–Related Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology 58:23, 2406-2414
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D. Jacoby, W. J. McKenna. (2011) Genetics of inherited cardiomyopathy. European Heart Journal
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Iacopo Olivotto, Francesca Girolami, Roberto Sciagrà, Michael J. Ackerman, Barbara Sotgia, J. Martijn Bos, Stefano Nistri, Aurelio Sgalambro, Camilla Grifoni, Francesca Torricelli, Paolo G. Camici, Franco Cecchi. (2011) Microvascular Function Is Selectively Impaired in Patients With Hypertrophic Cardiomyopathy and Sarcomere Myofilament Gene Mutations. Journal of the American College of Cardiology 58:8, 839-848
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Heiko Kilter, Michael Böhm. (2011) Hypertrophe Kardiomyopathie. DoctorConsult - The Journal. Wissen für Klinik und Praxis 2:2, e139-e144
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Michael J. Ackerman, Silvia G. Priori, Stephan Willems, Charles Berul, Ramon Brugada, Hugh Calkins, A. John Camm, Patrick T. Ellinor, Michael Gollob, Robert Hamilton, Ray E. Hershberger, Daniel P. Judge, Hervè Le Marec, William J. McKenna, Eric Schulze-Bahr, Chris Semsarian, Jeffrey A. Towbin, Hugh Watkins, Arthur Wilde, Christian Wolpert, Douglas P. Zipes. (2011) HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies. Heart Rhythm 8:8, 1308-1339
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M. J. Ackerman, S. G. Priori, S. Willems, C. Berul, R. Brugada, H. Calkins, A. J. Camm, P. T. Ellinor, M. Gollob, R. Hamilton, R. E. Hershberger, D. P. Judge, H. Le Marec, W. J. McKenna, E. Schulze-Bahr, C. Semsarian, J. A. Towbin, H. Watkins, A. Wilde, C. Wolpert, D. P. Zipes. (2011) HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 13:8, 1077-1109
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Sabe De, Allen G. Borowski, Heng Wang, Leah Nye, Baozhong Xin, James D. Thomas, W. H. Wilson Tang. (2011) Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy. American Heart Journal 162:2, 262-267.e3
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Yan-Rui SONG, Zhong LIU, Shu-Lian GU, Li-Juan QIAN, Qing-Feng YAN. (2011) Advances in the molecular pathogenesis of hypertrophic cardiomyopathy. Hereditas (Beijing) 33:6, 549-557
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Kathleen Stergiopoulos, Elaine Shiang, Travis Bench. (2011) Pregnancy in Patients With Pre-Existing Cardiomyopathies. Journal of the American College of Cardiology 58:4, 337-350
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I. Christiaans, E. Birnie, G. J. Bonsel, M. M. A. M. Mannens, M. Michels, D. Majoor-Krakauer, D. Dooijes, J. P. van Tintelen, M. P. van den Berg, P. G. A. Volders, Y. H. Arens, A. van den Wijngaard, D. E. Atsma, A. T. J. M. Helderman-van den Enden, A. C. Houweling, K. de Boer, J. J. van der Smagt, R. N. W. Hauer, C. L. M. Marcelis, J. Timmermans, I. M. van Langen, A. A. M. Wilde. (2011) Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy. European Heart Journal 32:9, 1161-1170
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Heng Wang, Baozhong Xin. (2011) Hypertrophic cardiomyopathy in the Amish community — What we may learn from it. Progress in Pediatric Cardiology 31:2, 129-134
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S. Mondillo, I. Olivotto, E. Palmerini, S. Nistri. (2011) New onset of electrocardiographic abnormalities heralding hypertrophic cardiomyopathy in an adult athlete. Internal Medicine Journal 41:5, 426-429
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Wessel P. Brouwer, Sabine J. van Dijk, Ger J. M. Stienen, Albert C. van Rossum, Jolanda van der Velden, Tjeerd Germans. (2011) The development of familial hypertrophic cardiomyopathy: from mutation to bedside. European Journal of Clinical Investigation 41:5, 568-578
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Carolyn Y. Ho. (2011) New paradigms in hypertrophic cardiomyopathy: Insights from genetics. Progress in Pediatric Cardiology 31:2, 93-98
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Schwartz, Robert S., , Watkins, Hugh, Ashrafian, Houman, Redwood, Charles, . (2011) Inherited Cardiomyopathies. New England Journal of Medicine 364:17, 1643-1656
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Elif Elmas, Christina Doesch, Stephan Fluechter, Miriam Freundt, Christel Weiss, Siegfried Lang, Thorsten Kälsch, Dariush Haghi, Jana Papassotiriou, Jan Kunde, Stefan O. Schoenberg, Martin Borggrefe, Theano Papavassiliu. (2011) Midregional pro-atrial natriuretic peptide: a novel marker of myocardial fibrosis in patients with hypertrophic cardiomyopathy. The International Journal of Cardiovascular Imaging 27:4, 547-556
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Talita M. Marin, Kimberly Keith, Benjamin Davies, David A. Conner, Prajna Guha, Demetrios Kalaitzidis, Xue Wu, Jessica Lauriol, Bo Wang, Michael Bauer, Roderick Bronson, Kleber G. Franchini, Benjamin G. Neel, Maria I. Kontaridis. (2011) Rapamycin reverses hypertrophic cardiomyopathy in a mouse model of LEOPARD syndrome–associated PTPN11 mutation. Journal of Clinical Investigation 121:3, 1026-1043
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Xue Wu, Jeremy Simpson, Jenny H. Hong, Kyoung-Han Kim, Nirusha K. Thavarajah, Peter H. Backx, Benjamin G. Neel, Toshiyuki Araki. (2011) MEK-ERK pathway modulation ameliorates disease phenotypes in a mouse model of Noonan syndrome associated with the Raf1L613V mutation. Journal of Clinical Investigation 121:3, 1009-1025
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M.T. Arrigan, R.P. Killeen, J.D. Dodd, W.C. Torreggiani. (2011) Imaging spectrum of sudden athlete cardiac death. Clinical Radiology 66:3, 203-223
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Jia Lin, Dong-Dong Zheng, Qin Tao, Jun-Hua Yang, Wen-Ping Jiang, Xiang-Jun Yang, Jian-Ping Song, Ting-Bo Jiang, Xun Li. (2010) Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy. Canadian Journal of Cardiology 26:10, 518-522
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P. Charron, M. Arad, E. Arbustini, C. Basso, Z. Bilinska, P. Elliott, T. Helio, A. Keren, W. J. McKenna, L. Monserrat, S. Pankuweit, A. Perrot, C. Rapezzi, A. Ristic, H. Seggewiss, I. van Langen, L. Tavazzi. (2010) Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. European Heart Journal 31:22, 2715-2726
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J.T Vehmeijer, I. Christiaans, I.M. Langen, E. Birnie, G.J. Bonsel, E.M.A. Smets, A.A.M. Wilde. (2010) Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: Dutch cardiologists and the care of mutation carriers. Netherlands Heart Journal
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Gilles Millat, Patrice Bouvagnet, Philippe Chevalier, Claire Dauphin, Pierre Simon Jouk, Antoine Da Costa, Fabienne Prieur, Jean-Luc Bresson, Laurence Faivre, Jean-Christophe Eicher, Nicolas Chassaing, Hervé Crehalet, Raphael Porcher, Claire Rodriguez-Lafrasse, Robert Rousson. (2010) Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy. European Journal of Medical Genetics 53:5, 261-267
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Ho, Carolyn Y., López, Begoña, Coelho-Filho, Otavio R., Lakdawala, Neal K., Cirino, Allison L., Jarolim, Petr, Kwong, Raymond, González, Arantxa, Colan, Steven D., Seidman, J.G., Díez, Javier, Seidman, Christine E., . (2010) Myocardial Fibrosis as an Early Manifestation of Hypertrophic Cardiomyopathy. New England Journal of Medicine 363:6, 552-563
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Hiroyuki Morita, Ryozo Nagai, J. G. Seidman, Christine E. Seidman. (2010) Sarcomere Gene Mutations in Hypertrophy and Heart Failure. Journal of Cardiovascular Translational Research 3:4, 297-303
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Maja Cikes, George R. Sutherland, Lisa J. Anderson, Bart H. Bijnens. (2010) The role of echocardiographic deformation imaging in hypertrophic myopathies. Nature Reviews Cardiology 7:7, 384-396
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E. Gandjbakhch, A. Gackowski, S. Tezenas du Montcel, R. Isnard, A. Hamroun, P. Richard, M. Komajda, P. Charron. (2010) Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging. European Heart Journal 31:13, 1599-1607
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Anthony J. Cedrone, John N. Makaryus, John N. Catanzaro, Phillip Ruisi, Tarin J. Romich, Patrick Horan, Amgad N. Makaryus, Sandeep Jauhar. (2010) Sudden Cardiac Death in a 20-Year-Old Male Swimmer. Southern Medical Journal 103:5, 464-466
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Qian Xu, Shannamar Dewey, Susan Nguyen, Aldrin V. Gomes. (2010) Malignant and benign mutations in familial cardiomyopathies: Insights into mutations linked to complex cardiovascular phenotypes. Journal of Molecular and Cellular Cardiology 48:5, 899-909
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David Barefield, Sakthivel Sadayappan. (2010) Phosphorylation and function of cardiac myosin binding protein-C in health and disease. Journal of Molecular and Cellular Cardiology 48:5, 866-875
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Thomas E Callis, Brian C Jensen, Karen E Weck, Monte S Willis. (2010) Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all. Expert Review of Molecular Diagnostics 10:3, 329-351
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C. A. Gurnett, D. M. Desruisseau, K. McCall, R. Choi, Z. I. Meyer, M. Talerico, S. E. Miller, J.-S. Ju, A. Pestronk, A. M. Connolly, T. E. Druley, C. C. Weihl, M. B. Dobbs. (2010) Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Human Molecular Genetics 19:7, 1165-1173
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I. Christiaans, E. Birnie, I. M. van Langen, K. Y. van Spaendonck-Zwarts, J. P. van Tintelen, M. P. van den Berg, D. E. Atsma, A. T.J.M. Helderman-van den Enden, Y. M. Pinto, J.F. Hermans-van Ast, G. J. Bonsel, A. A.M. Wilde. (2010) The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening. European Heart Journal 31:7, 842-848
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Ali J. Marian. (2010) Hypertrophic cardiomyopathy: from genetics to treatment. European Journal of Clinical Investigation 40:4, 360-369
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I. Christiaans, K. van Engelen, I. M. van Langen, E. Birnie, G. J. Bonsel, P. M. Elliott, A. A.M. Wilde. (2010) Risk stratification for sudden cardiac death in hypertrophic cardiomyopathy: systematic review of clinical risk markers. Europace 12:3, 313-321
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Tatum S. Simonson, Yuhua Zhang, Chad D. Huff, Jinchuan Xing, W. Scott Watkins, David J. Witherspoon, Scott R. Woodward, Lynn B. Jorde. (2010) Limited Distribution of a Cardiomyopathy-Associated Variant in India. Annals of Human Genetics 74:2, 184-188
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Sabir Hussain, Muhammad Asghar, Qamar Javed. (2010) Resistin gene promoter region polymorphism and the risk of hypertrophic cardiomyopathy in patients. Translational Research 155:3, 142-147
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L. Carrier, S. Schlossarek, M. S. Willis, T. Eschenhagen. (2010) The ubiquitin-proteasome system and nonsense-mediated mRNA decay in hypertrophic cardiomyopathy. Cardiovascular Research 85:2, 330-338
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Juan Pablo Kaski, Perry Elliott. 2010. Cardiomyopathies. , 1003-1034.
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Toru Kubo, Hiroaki Kitaoka, Makoto Okawa, Masanori Nishinaga, Yoshinori L Doi. (2010) Hypertrophic cardiomyopathy in the elderly. Geriatrics & Gerontology International 10:1, 9-16
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Akira Funada, Tetsuo Konno, Noboru Fujino, Akihiko Muramoto, Kenshi Hayashi, Toshinari Tsubokawa, Kenji Sakata, Masa-aki Kawashiri, Yoshiyu Takeda, Hidekazu Ino, Masakazu Yamagishi. (2010) Impact of Renin-Angiotensin System Polymorphisms on Development of Systolic Dysfunction in Hypertrophic Cardiomyopathy. Circulation Journal 74:12, 2674-2680
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Carolyn Y. Ho. (2009) Hypertrophic Cardiomyopathy: Preclinical and Early Phenotype. Journal of Cardiovascular Translational Research 2:4, 462-470
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Ali J. Marian. (2009) Experimental Therapies in Hypertrophic Cardiomyopathy. Journal of Cardiovascular Translational Research 2:4, 483-492
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M. Michels, O. I.I. Soliman, J. Phefferkorn, Y. M. Hoedemaekers, M. J. Kofflard, D. Dooijes, D. Majoor-Krakauer, F. J. Ten Cate. (2009) Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers. European Heart Journal 30:21, 2593-2598
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Imke Christiaans, Ronald H. Lekanne dit Deprez, Irene M. van Langen, Arthur A.M. Wilde. (2009) Ventricular fibrillation in MYH7-related hypertrophic cardiomyopathy before onset of ventricular hypertrophy. Heart Rhythm 6:9, 1366-1369
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J. Martijn Bos, Jeffrey A. Towbin, Michael J. Ackerman. (2009) Diagnostic, Prognostic, and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy. Journal of the American College of Cardiology 54:3, 201-211
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JEFFREY A. TOWBIN. (2009) Hypertrophic Cardiomyopathy. Pacing and Clinical Electrophysiology 32, S23-S31
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G Frisso, G Limongelli, G Pacileo, A Del Giudice, L Forgione, P Calabrò, M Iacomino, N Detta, LM Di Fonzo, V Maddaloni, R Calabrò, F Salvatore. (2009) A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy. Clinical Genetics 76:1, 91-101
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Yasuo Amano, Morimasa Takayama, Shinichiro Kumita. (2009) Cardiac Magnetic Resonance Imaging Findings Are Useful for Differentiating Between Hypertrophic Obstructive Cardiomyopathy and Aortic Valve Stenosis in Elderly Patients. Journal of Computer Assisted Tomography 33:3, 354-358
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Paal Skytt Andersen, Ole Havndrup, Lotte Hougs, Karina M. S
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Perundurai S Dhandapany, Sakthivel Sadayappan, Yali Xue, Gareth T Powell, Deepa Selvi Rani, Prathiba Nallari, Taranjit Singh Rai, Madhu Khullar, Pedro Soares, Ajay Bahl, Jagan Mohan Tharkan, Pradeep Vaideeswar, Andiappan Rathinavel, Calambur Narasimhan, Dharma Rakshak Ayapati, Qasim Ayub, S Qasim Mehdi, Stephen Oppenheimer, Martin B Richards, Alkes L Price, Nick Patterson, David Reich, Lalji Singh, Chris Tyler-Smith, Kumarasamy Thangaraj. (2009) A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia. Nature Genetics 41:2, 187-191
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Michelle Michels, Osama I.I. Soliman, Marcel J. Kofflard, Yvonne M. Hoedemaekers, Dennis Dooijes, Danielle Majoor-Krakauer, Folkert J. ten Cate. (2009) Diastolic Abnormalities as the First Feature of Hypertrophic Cardiomyopathy in Dutch Myosin-Binding Protein C Founder Mutations. JACC: Cardiovascular Imaging 2:1, 58-64
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Juan Carlos Estrada, Dawood Darbar. (2008) Clinical use of and future perspectives on antiarrhythmic drugs. European Journal of Clinical Pharmacology 64:12, 1139-1146
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María Sol Rodríguez-Calvo, María Brion, Catarina Allegue, Luis Concheiro, Angel Carracedo. (2008) Molecular genetics of sudden cardiac death. Forensic Science International 182:1-3, 1-12
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Fabio Cecconi, Carlo Guardiani, Roberto Livi. (2008) Analyzing pathogenic mutations of C5 domain from cardiac myosin binding protein C through MD simulations. European Biophysics Journal 37:5, 683-691
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Siv Fokstuen, Robert Lyle, Analia Munoz, Corinne Gehrig, René Lerch, Andreas Perrot, Karl Josef Osterziel, Christian Geier, Maurice Beghetti, François Mach, Juan Sztajzel, Ulrich Sigwart, Stylianos E. Antonarakis, Jean-Louis Blouin. (2008) A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy. Human Mutation 29:6, 879-885
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Morita, Hiroyuki, Rehm, Heidi L., Menesses, Andres, McDonough, Barbara, Roberts, Amy E., Kucherlapati, Raju, Towbin, Jeffrey A., Seidman, J.G., Seidman, Christine E., . (2008) Shared Genetic Causes of Cardiac Hypertrophy in Children and Adults. New England Journal of Medicine 358:18, 1899-1908
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