2007-11-01
Cardiac β-myosin heavy chain defects in two families with non-compaction cardiomyopathy: Linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies
Publication
Publication
European Heart Journal , Volume 28 - Issue 22 p. 2732- 2737
Cardiomyopathies are classified according to distinct morphological characteristics. They occur relatively frequent and are an important cause of mortality and morbidity. Isolated ventricular non-compaction or non-compaction cardiomyopathy (NCCM) is characterized by an excessively thickened endocardial layer with deep intertrabecular recesses, reminiscent of the myocardium during early embryogenesis. Aims: Autosomal-dominant as well as X-linked inheritance for NCCM has been described and several loci have been associated with the disease. Nevertheless, a major genetic cause for familial NCCM remains to be identified. Methods and Results: We describe, in two separate autosomal-dominant NCCM families, the identification of mutations in the sarcomeric cardiac β-myosin heavy chain gene (MYH7), known to be associated with hypertrophic cardiomyopathy (HCM), restricted cardiomyopathy (RCM), and dilated cardiomyopathy (DCM). Conclusion: These results confirm the genetic heterogeneity of NCCM and suggest that the molecular classification of cardiomyopathies includes an MYH7-associated spectrum of NCCM with HCM, RCM, and DCM.
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doi.org/10.1093/eurheartj/ehm429, hdl.handle.net/1765/35707 | |
European Heart Journal | |
Organisation | Erasmus MC: University Medical Center Rotterdam |
Hoedemaekers, Y., Caliskan, K., Majoor-Krakauer, D., van de Laar, I., Michels, M., Witsenburg, M., … Dooijes, D. (2007). Cardiac β-myosin heavy chain defects in two families with non-compaction cardiomyopathy: Linking non-compaction to hypertrophic, restrictive, and dilated cardiomyopathies. European Heart Journal, 28(22), 2732–2737. doi:10.1093/eurheartj/ehm429 |