Correspondence

Coexistence of Hypertrophic Cardiomyopathy and Fibromuscular Dysplasia of the Superior Mesenteric Artery

N Engl J Med 2001; 344:1333-1334April 26, 2001

Article

To the Editor:

Hypertrophic cardiomyopathy and fibromuscular dysplasia of the superior mesenteric artery that causes ischemic colitis are rare clinical entities. Their coexistence would probably be considered incidental, but they have some similarities. We describe a 33-year-old man with hypertrophic cardiomyopathy who was admitted to our hospital because of diffuse abdominal pain. The cardiomyopa thy had been diagnosed by echocardiography three years before, after his father, who died suddenly, was found at autopsy to have had hypertrophic cardiomyopathy. The patient had no cardiac symptoms, but he did have left ventricular hypertrophy on electrocardiography.

During the next 24 hours, signs of peritoneal irritation developed. Exploratory laparotomy revealed gangrene of a 25-cm segment of the small bowel, about 50 cm proximal to the ileocecal valve. The gangrenous segment was resected, and continuity was restored by end-to-end anastomosis. His postoperative course was uneventful.

Pathological examination of the resected bowel showed transmural infarction and an abnormally large, muscular artery in the mesentery. Histologic examination of sections of this artery showed marked thickening of the media due to hyperplasia, along with irregular arrangement of the smooth-muscle fibers. The artery was very stenotic, with a lumen the diameter of a pinpoint. In the absence of any inflammatory infiltrate or atheromatous, myxoid, or fibrinoid changes, the findings were diagnostic of fibromuscular dysplasia.

The patient then underwent digital subtraction angiography of the celiac and mesenteric arteries, which revealed a “chain of beads” appearance (characteristic of fibromuscular dysplasia) in a branch of the superior mesenteric artery (Figure 1Figure 1Digital Subtractive Angiography of the Superior Mesenteric Artery, Showing a “Chain of Beads” Appearance (Arrows) in a Branch of the Artery.) and obstruction of the ascending branch of the left colic artery. The renal arteries, the celiac axis, and the iliac arteries were normal. Eighteen months after the operation, the patient was asymptomatic.

The cause of fibromuscular dysplasia is not known. Some have suggested that it is an autosomal dominant disorder with variable penetrance.1,2 Hypertrophic cardiomyopathy is also an autosomal dominant disorder with a high degree of penetrance. However, none of the patients with hypertrophic cardiomyopathy in whom specific mutations were identified also had fibromuscular dysplasia. There are also structural similarities between the two disorders, such as a severe disorganization of the muscle fibers.

Considering these similarities, as well as the coexistence of these clinical entities in at least two cases,3 we wonder whether the disorders are part of the same syndrome.

Michael Safioleas, M.D.
John Kakisis, M.D.
Christine Manti, M.D.
Athens University Medical School, 10674 Athens, Greece

3 References

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   Rushton AR. The genetics of fibromuscular dysplasia. Arch Intern Med 1980;140:233-236
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   Mettinger KL, Ericson K. Fibromuscular dysplasia and the brain. I. Observations on angiographic, clinical and genetic characteristics. Stroke 1982;13:46-52
   CrossRef | Web of Science | Medline

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   Case Records of the Massachusetts General Hospital (Case 9-1995). N Engl J Med 1995;332:804-810
   Full Text | Web of Science | Medline

Citing Articles (3)

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   Tsutomu Horie, Yoshihiko Seino, Yasushi Miyauchi, Tsutomu Saitoh, Teruo Takano, Amiko Ohashi, Nobutaka Yamada, Koichi Tamura, Nobuaki Yamanaka. (2002) Unusual Petal-like Fibromuscular Dysplasia as a Cause of Acute Abdomen and Circulatory Shock. Japanese Heart Journal 43:3, 301-305
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