Kardiologische Befunde bei Hauptmann-Thannhauser-Muskeldystrophie (autosomal dominante Emery Dreifuss-Muskeldystrophie)

HISTORY: 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. FINDINGS: 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 pressur at rest was recorded through an indwelling Swan-Ganz catheter, but cardiac output was normal. Histopathology revealed findings typical for dilated cardiomyo-pathy. THERAPY AND COURSE: 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. CONCLUSION: 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.