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European Journal of Heart Failure 2007 9(1):98-99; doi:10.1016/j.ejheart.2006.03.008
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© 2006 European Society of Cardiology

Non-compaction cardiomyopathy in an adult with hereditary spherocytosis

Peter Alter* and Bernhard Maisch

Philipps University of Marburg, Department of Internal Medicine - Cardiology Baldingerstrasse, D-35033 Marburg, Germany

* Corresponding author. Tel.: +49 6421 2866462; fax: +49 6421 2868954. alter{at}mailer.uni-marburg.de


  Abstract

A 23-year old male (199 cm, 88 kg) presented muscular weakness due to skeletal myopathy and symptoms of heart failure NYHA functional class II. Total creatine kinase was increased up to 830 U/l, but troponin was negative. Prior episodes of intermittent atrial fibrillation were reported and 6 years ago splenectomy was performed due to hereditary spherocytosis. Cardiac magnetic resonance imaging revealed the spongy appearance of non-compacted left ventricular myocardium. This impaired fetal morphogenesis occurred predominantly in the apical to midventricular anterior, lateral and inferior segments. Non-compaction cardiomyopathy was initially described in paediatric patients. Occasional associations with other congenital disorders are known, e.g., Barth syndrome, which is an X-linked disease characterized by cardio-skeletal myopathy of variable severity and neutropenia. To our knowledge, combined occurrence of non-compaction cardiomyopathy, skeletal myopathy and hereditary spherocytosis has not previously been reported.

Key Words: Non-compaction cardiomyopathy • Dilated cardiomyopathy • Spherocytosis • Cardiac imaging • Magnetic resonance imaging • Heart failure

Received November 8, 2005; Revised February 7, 2006; Accepted March 30, 2006


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