[Cardiologic findings in Hauptmann-Thannhauser muscular dystrophy (autosomal dominant Emery-Dreifuss muscular dystrophy)].

METHODS

A 19-year-old man with congestive heart failure reported recent onset of exercise-induced dyspnea and pitting edema of the face. He also developed increasing muscular weakness. Three years before the diagnosis of autosomal-dominant Emery-Dreifuss muscular dystrophy (EDMD) had been made.

RESULTS

Cardiac and lung auscultation were unremarkable. The heart rate was 102 /min, and the blood pressure 100/70 mmHg. Aspartate aminotransferase (62 U/l) and lactate dehydrogensase (361 U/l) were elevated. The electrocardiogram during telemetric monitoring showed a 2 AV block, Mobitz type II. Echocardiography showed an ejection fraction of 20%. Coronary atherosclerosis was excluded by coronary angiography. A raised pulmonary wedge pressure at rest was recorded through an indwelling Swan-Ganz catheter, but cardiac output was normal. Histopathology revealed findings typical for dilated cardiomyopathy.

RESULTS

The patient was already on diuretics when admitted; other medication included an ACE inhibitor, beta-blocker, aldosterone antagonist and digitalis. A cardioverter-defibrillator was implanted prophylactically. Congestive heart failure developed during the subsequent months. Two years later the patient underwent orthotopic heart transplantation.

CONCLUSIONS

In patients with genetically determined neuromuscular diseases it is prognostically important early to recognize cardiomyopathy and cardiac arrhythmias. Subsequent cardiac transplantation may be life-saving.