Original Article
The Frequency of Familial Dilated Cardiomyopathy in a Series of Patients with Idiopathic Dilated Cardiomyopathy
N Engl J Med 1992; 326:77-82January 9, 1992
- Abstract
- Abstract
Background.
Dilated cardiomyopathy is characterized by an increase in ventricular size and impairment of ventricular function. Most cases are believed to be sporadic, and familial dilated cardiomyopathy is usually considered to be a rare and distinct disorder. We studied the proportion of cases of idiopathic dilated cardiomyopathy that were familial in a large sequential series of patients whose first-degree relatives were investigated regardless of whether these relatives had cardiac symptoms.
Methods.
We studied the relatives of 59 index patients with idiopathic dilated cardiomyopathy by obtaining a family history and performing a physical examination, electrocardiography, and two-dimensional, M-mode, and Doppler echocardiography. A total of 315 relatives were examined.
Results.
Eighteen relatives from 12 families were shown to have dilated cardiomyopathy. Thus, 12 of the 59 index patients (20.3 percent) had familial disease. There was no difference in age, sex, severity of disease, exposure to selected environmental factors, or electrocardiographic or echocardiographic features between the index patients with familial disease and those with nonfamilial disease. A noteworthy finding was that 22 of 240 healthy relatives (9.2 percent) with normal ejection fractions had increased left ventricular diameters during systole or diastole (or both), as compared with 2 of 112 healthy control subjects (1.8 percent) who were studied separately.
Conclusions.
Dilated cardiomyopathy was found to be familial in at least one in five of the patients in this study, a considerably higher percentage than in previous reports. This finding has important implications for family screening and provides direction for further investigation into the causes and natural history of dilated cardiomyopathy. (N Engl J Med 1992;326:77–82.)
Media in This Article
Table 1
Characteristics of the Index Patients with Dilated Cardiomyopathy.*Table 2
Classification of 325 Relatives According to Disease Status and the Status of the Index Patients with Dilated Cardiomyopathy.Article Activity
- Article
DILATED cardiomyopathy is a disease of unknown cause characterized by dilation and impaired function of one or both ventricles.1 The prevalence of dilated cardiomyopathy has been estimated to be 36.5 per 100,000 in a population-based study.2
Most cases of dilated cardiomyopathy are believed to be sporadic.3 Although several large families have been reported to be affected,4 they have often been regarded as a rare subgroup of patients with dilated cardiomyopathy. Except for family history, characteristics that might distinguish between familial and nonfamilial dilated cardiomyopathy are unknown. In a retrospective series of patients with dilated cardiomyopathy, 6 percent had familial disease.5 In another study, familial dilated cardiomyopathy was identified on the basis of history in 8.7 percent of young patients presenting for cardiac transplantation.6 In a study of 165 patients with dilated cardiomyopathy, in which relatives were studied only when suspected of having disease, 7 percent of the patients had familial disease.7 However, there has been no study of the proportion of familial cases of dilated cardiomyopathy in a sequential series of patients whose relatives were studied regardless of whether they were suspected of having heart disease. We hypothesized that a prospective study that included asymptomatic relatives of patients with dilated cardiomyopathy might reveal a higher proportion of familial cases than had been reported previously. We therefore carried out a detailed study of the relatives of patients with dilated cardiomyopathy.
Methods
We reviewed the medical records of all patients evaluated at the Mayo Clinic between July 1, 1987, and December 31, 1989, who had ejection fractions of less than 50 percent as detected by echocardiography or cardiac catheterization; all the patients had symptoms. All patients who met the criteria for dilated cardiomyopathy were invited to participate. One patient died before her family was enrolled in the study.
The criteria for the diagnosis of dilated cardiomyopathy were a left ventricular ejection fraction of less than 50 percent with a diastolic dimension above the 95th percentile for the patient's age and body-surface area,8 , 9 when other causes of disease had been excluded. We verified the published data on normal left ventricular dimensions using 112 normal volunteers; measurements were made in at least 8 men and 8 women for each decade between the ages of 20 and 80 years. All patients older than 40 had to have undergone coronary angiography, and the diagnosis of dilated cardiomyopathy was accepted when no lesions resulted in obstruction of ≥50 percent of any coronary-artery segment. Coronary angiography was required in patients ≥40 years old if there was a history of angina, an abnormal exercise test, or segmental areas of dyskinesia on echocardiography. All patients had comprehensive two-dimensional and Doppler echocardiograms and color-flow examinations. Patients with any of the following conditions were excluded: intrinsic valve disease; congenital malformations; systemic disease, such as severe hypertension, insulin-dependent diabetes, drug-induced cardiomyopathy, infantile endocardial fibroelastosis, hemochromatosis, amyloidosis, or neuromuscular disease; or myocarditis documented by endomyocardial biopsy10 or associated with severe viral infection (e.g., encephalitis). Patients with a vague history of a preceding viral illness were not excluded. Patients with excessive alcohol ingestion were included, since such persons may have a genetic predisposition to cardiomyopathy; furthermore, their exclusion could spuriously inflate the proportion of patients with familial disease, since a diagnosis of alcohol-induced cardiomyopathy might be made more readily in the absence of a family history of cardiomyopathy. For similar reasons, patients with peripartum cardiomyopathy were included.
Tissue obtained by biopsy of the right ventricular endomyocardium was examined by light and electron microscopy by a pathologist who had no knowledge of the family history of any patient. Particular attention was paid to an examination of the mitochondria.
This study was approved by the institutional review board, and participants gave informed, written consent. We asked eligible patients whether we could invite their first-degree relatives (parents, siblings, and children) to participate. Records were kept on persons who declined to participate. A three-to-four-generation pedigree was constructed. If any first-degree relative was found to have dilated cardiomyopathy, their first-degree relatives were also invited to participate. For deceased relatives, medical records were reviewed when available and the diagnosis of dilated cardiomyopathy was based on the criteria used for the index patients as well as on the results of the postmortem examination.
Participating relatives had physical examinations, electrocardiography, and comprehensive echocardiography, including two-dimensional, M-mode, spectral Doppler, and color-flow imaging. Techniques for performing these examinations have been described previously.11 12 13 Measurements of chamber and wall thickness were made on two-dimensional guided M-mode echocardiograms or directly on the two-dimensional echocardiograms. The left ventricular ejection fraction was calculated with a modification of the formula of Quinones et al.14
Normal values for echocardiographic measurements were based on age and body-surface area as described previously8 , 9 and as confirmed in our echocardiography laboratory in a separate study of 112 normal, healthy control subjects. In every case, the echocardiographers were unaware of the family history.
Information collected at the time of physical examination included a history of other illnesses and the use of medications. Participants were asked how many ounces of beer, wine, or liquor they consumed per day on average at the time of the study and what their maximal consumption had been. Participants who reported that they exercised for at least 20 minutes per week were categorized as performing active exercise. If they reported current use of any caffeinated beverages, they were categorized as using caffeine. Participants were also classified according to whether they had ever smoked cigarettes or were still smoking cigarettes.
The relatives were grouped in three categories. Relatives in group 1 were considered to have dilated cardiomyopathy according to the diagnostic criteria used for the index patients. Those in group 2 were considered healthy on the basis of a normal ejection fraction, regardless of ventricular size, and had no other serious heart disease. Those in group 3 were considered to be of indeterminate status because they had echocardiographic abnormalities consistent with dilated cardiomyopathy and (although they had no other obvious explanation for their heart disease) were over 40 years old and had not had coronary angiography. Group 3 also included relatives with cardiac abnormalities plus a serious noncardiac disease such as cancer and those who had a history of myocardial infarction or segmental changes on echocardiography.
Index patients were grouped in three categories on the basis of the disease status of their relatives. Those in the first category were considered to have familial disease because they had at least one relative in group 1. Index patients in the second category were considered to be of indeterminate status because they had no relatives in group 1 but at least one relative in group 3. Index patients in the third category were considered to have nonfamilial disease because all relatives studied were in group 2.
For comparison with this prospective study of relatives, we also retrospectively identified 14 families with familial dilated cardiomyopathy. Diagnostic criteria for disease and the recruitment and study of relatives were the same as for the prospective study.
Results for quantitative traits are given as means ±SD. Student's t-test was used to compare two groups of index patients or two groups of relatives. Pearson's chi-square or Fisher's exact test was used to compare the relative frequency of characteristics between index patients with familial disease and those with nonfamilial disease as well as between relatives with and those without enlarged ventricles. All P values were two-sided; P values above 0.05 were considered not to indicate statistical significance.
Results
Ninety-six patients met the diagnostic criteria for idiopathic dilated cardiomyopathy. Twenty-nine patients did not participate for the following reasons: 4 were not interested, 6 lived too far from the medical center, 2 thought the costs of travel were too high, and 17 did not give a reason. There were no differences in age, body size, left ventricular size, or ejection fraction between those who participated and those who did not. However, participants lived closer to the medical center, and a higher proportion were female. Sixtyseven of the 96 patients (69.8 percent) agreed to participate. Of these 67, 59 had relatives who were enrolled in the study as of December 31, 1989. Data on these 59 index patients and their families are presented here as the results of the prospective study. Clinical, electrocardiographic, and echocardiographic data for the index patients in the prospective study are shown in Table 1.Table 1
Characteristics of the Index Patients with Dilated Cardiomyopathy.* To determine whether participation in the study was related to a family's suspicion that it had familial disease, the proportion of families participating in the prospective study (59 of 96, or 61.4 percent) was compared with the proportion in the retrospective study, in which the family members knew that they had familial disease. In the retrospective study, 9 of 14 families (64.3 percent) participated, suggesting that willingness to participate was independent of previous knowledge of familial disease.Data were obtained on 325 relatives (130 male and 195 female): 315 were examined directly in the prospective study, and the status of 10 deceased relatives was determined by a review of medical records. Their mean age was 38 years (range, 1 day to 84.1 years). Two hundred sixty-two were first-degree relatives, 52 were second-degree relatives, and 11 were third-degree relatives of the index patients. Two generations were studied in 35 families, three generations were studied in 18 families, and one generation was studied in 6 families.
Eighteen of the 325 relatives (5.5 percent) had left ventricular ejection fractions below 50 percent (group 1 in Table 2Table 2
Classification of 325 Relatives According to Disease Status and the Status of the Index Patients with Dilated Cardiomyopathy.) and came from 12 families. The number of relatives studied in each of these 12 families and the relationship of each affected relative to the index patient are shown in Table 3Table 3
Number of Relatives with Dilated Cardiomyopathy in Each Family and Their Relationship to the Index Patients.*. Among the 18 relatives with abnormal ejection fractions, dilated cardiomyopathy had been diagnosed previously in 3 and was diagnosed for the first time in our study in 15. Of the 15 patients in whom dilated cardiomyopathy was identified by our investigations, 7 were known to have heart disease but had not been suspected of having dilated cardiomyopathy and 8 had not been considered to have any heart disease.Among the 59 index patients, 12 (20.3 percent) were considered to have familial dilated cardiomyopathy because they had at least one affected relative. Only three of these families had been suspected of having familial disease on the basis of family history alone. Our examination of relatives indicated that 24 of the 59 patients (40.7 percent) did not have apparent familial disease and 23 (39.0 percent) were of indeterminate status. Complex segregation analysis15 of the disease in the 59 pedigrees provided strong evidence for a single dominant locus with incomplete penetrance. This model fit the data at least 1 X 1010 times better than a model with a single recessive locus with incomplete penetrance, a polygene model, or a sporadic model. Only one pedigree, that of family 2 (Table 3), provided strong support for the recessive model of familial dilated cardiomyopathy; in that family a deceased parent was reported to have been affected, but the disease status could not be confirmed.
There were no differences between the 12 index patients with familial disease and the other 47 index patients except for a higher frequency of atrioventricular conduction defects and aortic regurgitation in the former group (Table 4Table 4
Characteristics of Index Patients with Familial Dilated Cardiomyopathy and Those with Nonfamilial Disease or Indeterminate Disease Status.*). In addition, there were no differences with respect to the incidence of cigarette smoking, hospitalization for viral illnesses, or asthma or in the use of alcohol, caffeine, or medications for allergies or asthma. In the 44 index patients who had had a myocardial biopsy, analysis by light microscopy did not detect any difference between patients with familial dilated cardiomyopathy and those with nonfamilial disease in the frequency or degree of hypertrophy of the myocytes, interstitial fibrosis, or fat or endocardial thickening. Electron microscopy of biopsy specimens from 23 patients did not detect specific mitochondrial abnormalities in any sample (data not shown).Of the 279 relatives without dilated cardiomyopathy (group 2 in Table 2), 240 had no history or evidence of heart disease and had ejection fractions of more than 50 percent. However, 22 of these relatives (9.2 percent) had left-ventricular-cavity dimensions that were above normal for their age and body size (Table 5Table 5
Incidence and Type of Left Ventricular Enlargement in 240 Healthy Relatives with Normal Ejection Fractions.*). This is significantly higher (P<0.02) than the frequency of 1.8 percent in the group of normal subjects studied separately (2 of 112). The mean ejection fraction was significantly lower in the 22 healthy relatives with enlarged ventricles than in healthy relatives with Normal-Sized ventricles (56.45±4.88 percent vs. 61.85±4.54 percent, P<0.001). The 22 healthy relatives with enlarged ventricles differed from the other healthy relatives with respect to sex (P<0.001): 17 were male. The mean age of the two groups was similar. One of the relatives with enlarged ventricles had increased thickness of the left ventricular septum, and only 5 of the 22 reported that they exercised regularly.In the retrospective study, the frequency of enlarged left ventricles in healthy relatives (9 of 62, 14.5 percent) was not different from the frequency in healthy relatives in the prospective study (P = 0.24), but it was significantly higher than the frequency in 112 normal subjects (P = 0.002). The nine relatives with enlarged ventricles in the retrospective study also had significantly lower ejection fractions than the other healthy relatives with Normal-Sized ventricles (54.98±5.1 percent vs. 59.01 ±4.2 percent, P<0.05).
Discussion
Numerous large families with dilated cardiomyopathy have been described and are presumed to have single gene defects. However, such families have been thought to be unusual, and their relevance to the cause of most cases of idiopathic dilated cardiomyopathy is unknown.4 Recently, we and others have suggested that idiopathic dilated cardiomyopathy is more frequently familial than is generally recognized.3 , 6 , 7 Our current finding that approximately 20 percent of patients with idiopathic dilated cardiomyopathy had familial disease supports this hypothesis. Most previous studies have been retrospective5 , 16 or based on a small number of index patients.17 In a series of 165 patients with dilated cardiomyopathy, 7 percent of cases were considered familial,7 but only relatives suspected of having heart disease were investigated. This value is similar to our finding that on the basis of family history alone, only 5 percent were suspected of having familial disease.
The role of a preceding viral infection in the development of most cases of dilated cardiomyopathy remains unclear.18 In our study, the frequency of a previous viral infection severe enough to require hospitalization was not significantly different between index patients with familial disease and those with nonfamilial disease. Alcohol influences the development of dilated cardiomyopathy in some cases, and asymptomatic alcoholic patients have depressed left ventricular function and increased end-diastolic diameters.19 There was no association between reported alcohol ingestion and the ejection fraction or ventricular size in our 59 index patients, nor were there any differences in alcohol use between patients with familial disease and those with nonfamilial disease. However, only six index patients reported a history of drinking more than two alcoholic beverages per day.
Families have been described in which a number of members with dilated cardiomyopathy first became symptomatic in the peripartum period.20 Two of our patients (both with familial disease) became symptomatic in the peripartum period. There were no differences in the number of pregnancies between index patients with familial disease and those with nonfamilial disease.
No distinctive mitochondrial abnormalities were noted on electron microscopy of tissue from our natients who had biopsies, regardless of whether they had familial disease. It has been reported that siblings with familial dilated cardiomyopathy have structurally abnormal mitochondria on electron microscopy.21 The patients in that study were significantly younger (mean age, 16 years) than our patients (mean age, 49).
Our finding that 5.5 percent of the relatives studied had dilated cardiomyopathy is much higher than the number expected on the basis of the prevalence of dilated cardiomyopathy in the general population.22 Eight of the 18 relatives with dilated cardiomyopathy had not previously been suspected of having heart disease. It will be important to determine the clinical course of their disease by serial evaluations. Complex segregation analysis of the families reported here best fits a model for a single dominant locus with incomplete penetrance, but multiple genetic causes are possible.
None of our index patients had severely decreased ejection fractions without substantial ventricular dilation. Thus, our patients are not comparable to a rare subgroup of patients with a possible restrictive component to their disease who have minimal cardiac dilation but markedly decreased left ventricular ejection fractions.23
The finding of an enlarged left ventricle in 9.2 percent of the healthy relatives was unexpected. The diastolic dimension of the left ventricle, but not the systolic dimension, can be increased in trained athletes.24 25 26 Ten of our subjects had enlarged left ventricles during both systole and diastole. Seven had enlargement only during systole. Five of our patients had ventricular enlargement only during diastole, and only two reported that they exercised at least 20 minutes three times per week. None of these five had an increase in the thickness of the left ventricular posterior wall, but one had increased septal thickness, a condition that has been described in some athletes.24 25 26 The finding that patients with familial disease and those with apparently nonfamilial disease had similar proportions of relatives with left ventricular enlargement could mean that these two types of families have basic biologic or genetic similarities and that some of the patients with apparently nonfamilial disease will later be determined to have an affected relative. These findings raise the possibility that asymptomatic enlargement of the left ventricle may represent the earliest stage of dilated cardiomyopathy and thus may be an important clue to the pathogenesis of this disease. This speculation is consistent with the findings in a study of a population-based cohort of patients with dilated cardiomyopathy27 who had a more slowly progressive course than patients referred to tertiary care centers. The significantly lower mean ejection fraction in relatives with enlarged left ventricles than in relatives with Normal-Sized ventricles suggests that the enlargement may be biologically important. A longitudinal study of these relatives will be necessary to answer these questions.
In conclusion, our finding that about 20 percent of patients with idiopathic dilated cardiomyopathy have familial disease is based on a large series in which the relatives of consecutive patients with confirmed idiopathic dilated cardiomyopathy were routinely investigated. Since we cannot be certain that patients whose examined relatives were not affected did not have other relatives who were, this 20 percent prevalence should be taken as a minimum. Our study demonstrates that familial disease must be considered even in patients without an obvious family history of disease. At present there are no known specific characteristics, except for a family history, that distinguish familial from nonfamilial cases.
Supported by grants from the National Institutes of Health (R01 HL36879) and the Minnesota Heart Association.
We are indebted to the study coordinators, Carol Rainey and Susan Nelson, and to Paul Bastiansen, Peggy Kalmes, Bonnie Johnson, Jane Jensen, Diane Schmidt, and Geri Pumper for technical assistance.
Source Information
From the Department of Medical Genetics (V.V.M.), Sections of Cardiology of the Departments of Pediatrics (D.J.D.), Internal Medicine (F.A.M., A.J.T., J.C.B., R.J.R., J.H.C.), and Pathology (H.D.T.), Mayo Clinic, Rochester, Minn.; and the Departments of Human Genetics (P.P.M.) and Epidemiology (P.P.M., J.S.C.), University of Michigan, Ann Arbor. Address reprint requests to Dr. Michels at the Department of Medical Genetics, Mayo Clinic, Rochester, MN 55905.
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