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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
Top
 Abstract
1. Introduction
 2. Case
 3. Conclusions
 References
 
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


   1. Introduction
Top
 Abstract
 1. Introduction
2. Case
 3. Conclusions
 References
 
Cardiomyopathies are defined as myocardial diseases associated with cardiac dysfunction. Beside the well defined entities of dilated, hypertrophic, restrictive, and arrhythmogenic right ventricular cardiomyopathies, non-compaction of the myocardium belongs to the inhomogeneous group of unclassified cardiomyopathies [1].


   2. Case
Top
 Abstract
 1. Introduction
 2. Case
3. Conclusions
 References
 
A 23-year old man (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. Splenectomy had been performed six years previously because of hereditary spherocytosis. Present echocardiography revealed a moderately reduced left ventricular systolic function with an ejection fraction of 40% to 45%.

ECG-gated breathhold cardiac magnetic resonance (CMR) imaging using a 1.5 T scanner (Sonata, Siemens Medical Systems) was performed to assess myocardial morphology, cardiac function and ventricular volumes. Functional cine images using steady-state free precession (SSFP) sequences were assessed in different planes to visualize cardiac function. For quantification, a stack of short-axis views of the complete left ventricle during the cardiac cycle was obtained from base to apex. In addition, 3 single slices of short-axis views using T2-weighted turbo spin echo (TSE) sequences with fat suppression technique were obtained to assess potential myocardial oedema, e.g., due to myocarditis. Inversion-recovery turbo fast low-angle shot (turboFLASH) sequences were used to visualize potential delayed enhancement 12 min after application of contrast medium (0.2 mmol/kg of body weight Magnevist, Schering, Germany) that could reveal potential inflammation, cardiomyopathy or myocardial scar.

CMR imaging showed the spongy appearance of non-compacted left ventricular myocardium that predominantly occurred in the apical to midventricular anterior, lateral and inferior segments (Fig. 1). There was no evidence of additional myocardial pathomorphology in T2-weighted TSE images. Also, presence of a late enhancement was not observed. Left ventricular volumes (normalized to body surface area) were 84 ml/m2 (normal 43 to 90 ml/m2) at enddiastole and 46 ml/m2 (normal 10 to 35 ml/m2) at endsystole. Accordingly, left ventricular ejection fraction was 45%.


Figure 01
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  		Fig. 1 Cardiac magnetic resonance imaging reveals the spongy appearance (arrows) of non-compacted left ventricular myocardium in a left ventricular short axis view.

 
Heart catheterization was performed to obtain left-ventricular endomyocardial biopsies, which showed no evidence of virus persistence, myocarditis or other specific cardiomyopathy. In addition, coronary disease was excluded by angiography.


   3. Conclusions
Top
 Abstract
 1. Introduction
 2. Case
 3. Conclusions
References
 
The present case deals with non-compaction cardiomyopathy in an adult patient with hereditary spherocytosis and skeletal myopathy that, to our knowledge, has not been reported previously. CMR imaging visualized the spongy appearance of the myocardium [2] and reduced systolic function. Neither CMR [3,4] nor endomyocardial biopsy specimen [5-7] showed evidence for myocardial inflammation, specific cardiomyopathy or storage diseases.

Non-compaction cardiomyopathy, initially described in paediatric patients, is thought to result from an arrest of the endomyocardial morphogenesis during fetal development [8,9]. 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 [10]. It could not be ascertained from the present case, whether there is a causative relationship between spherocytosis, skeletal myopathy and non-compaction cardiomyopathy. However, its occurrence is intriguing and for future cases there should be an awareness of this potentially underlying syndrome.


   References
Top
 Abstract
 1. Introduction
 2. Case
 3. Conclusions
 References
 

  1. Richardson P., McKenna W., Bristow M., et al. Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies. Circulation (1996) 93(5):841–842.[Free Full Text]
  2. Angelini A., Melacini P., Barbero F., Thiene G. Evolutionary persistence of spongy myocardium in humans. Circulation (1999) 99(18):2475.[Free Full Text]
  3. Alter P., Grimm W., Rominger M.B., et al. Right ventricular cardiac myxoma diagnostic usefulness of cardiac magnetic resonance imaging. Herz (2005) 30(7):663–667.[CrossRef][Web of Science][Medline]
  4. Mahrholdt H., Goedecke C., Wagner A., et al. Cardiovascular magnetic resonance assessment of human myocarditis: a comparison to histology and molecular pathology. Circulation (2004) 109(10):1250–1258.[Abstract/Free Full Text]
  5. Alter P., Jobmann M., Meyer E., Pankuweit S., Maisch B. Apoptosis in myocarditis and dilated cardiomyopathy: does enterovirus genome persistence protect from apoptosis? An endomyocardial biopsy study. Cardiovasc Pathol (2001) 10(5):229–234.[CrossRef][Web of Science][Medline]
  6. Maisch B., Seferovic P.M., Ristic A.D., et al. Guidelines on the diagnosis and management of pericardial diseases executive summary; the task force on the diagnosis and management of pericardial diseases of the European society of cardiology. Eur Heart J (2004) 25(7):587–610.[Free Full Text]
  7. Alter P., Rupp H., Maisch B. Activated nuclear transcription factor kappaB in patients with myocarditis and dilated cardiomyopathy-relation to inflammation and cardiac function. Biochem Biophys Res Commun (2006) 339(1):180–187.[CrossRef][Web of Science][Medline]
  8. Elshershari H., Okutan V., Celiker A. Isolated noncompaction of ventricular myocardium. Cardiol Young (2001) 11(4):472–475.[CrossRef][Web of Science][Medline]
  9. Pignatelli R.H., McMahon C.J., Dreyer W.J., et al. Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy. Circulation (2003) 108(21):2672–2678.[Abstract/Free Full Text]
  10. Barth P.G., Scholte H.R., Berden J.A., et al. An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes. J Neurol Sci (1983) 62(1-3):327–355.[CrossRef][Web of Science][Medline]

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