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Autosomal dominantes Humero-Peroneales Syndrom mit frühzeitigen Kontrakturen und Kardiomyopathie (Emery-Dreifuss-Syndrom)

Dominant autosomal humeroperoneal syndrome with premature contractures and cardiomyopathy (emery-dreifuss syndrome)

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Summary

At least seven members of a family coming from southern Germany (Franconia) have manifested Emery-Dreifuss syndrome within four generations. This syndrome is characterized by slowly progressing atrophic pareses, generally in a humeroperoneal distribution, premature joint contracture, and cardiomyopathy with reduction of functional capacity. Up to now four members of this family have died from cardiac causes between the age of 39 and 46 years. Three family members have now been thoroughly examined; they showed typical muscular atrophies and contractures. The two older patients were diagnosed as having a cardiomyopathy with a complete atrioventricular block and ventricular tachycardia. Electromyographic and histological findings indicate a primary neurogenic process. Regular cardiological examinations combined with effective therapy (for example, implantation of a cardiac pacemaker and treatment with antiarrhythmic drugs) will be necessary in treating the serious arrhythmias. Progressive myocardial insufficiency required heart transplantation in one of our patients, which was successfully performed. Macroscopic and microscopic examination of the explanted heart showed a dilatative cardiomyopathy with hypertrophy and dilatation of both atria and ventricles, differences in the diameters of individual heart muscle cells, and a predominately focal interstitial fibrosis.

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Abbreviations

AV:

atrioventrikulär

CK:

Creatinkinase

HWS:

Halswirbelsäule

NLG:

Nervenleitgeschwindigkeit

PME:

Potentiale motorischer Einheiten

SEP:

somatosensibel evozierte Potentiale

VEP:

visuell evozierte Potentiale

VES:

ventrikuläre Extrasystolie

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Baur, X., Witt, T.N., Pongratz, D. et al. Autosomal dominantes Humero-Peroneales Syndrom mit frühzeitigen Kontrakturen und Kardiomyopathie (Emery-Dreifuss-Syndrom). Klin Wochenschr 65, 738–745 (1987). https://doi.org/10.1007/BF01736811

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Key words

  • Emery-Dreifuss syndrome
  • Autosomal dominant trait
  • Humeroperoneal syndrome
  • Cardiomyopathy
  • Atrioventricular block
  • Sudden cardiac death