30.09.2010 | ORIGINAL ARTICLE
Hypertrophic cardiomyopathy family with double-heterozygous mutations; does disease severity suggest double-heterozygosity?
verfasst von:
I.A.W. van Rijsingen, J.F. Hermans-van Ast, Y.H.J.M. Arens, S.M. Schalla, C.E.M de Die-Smulders, A. van den Wijngaard, Y.M. Pinto
Erschienen in:
Netherlands Heart Journal
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Abstract
Background. With the improvement in genetic testing over time, double-heterozygous mutations are more often found by coincidence in families with hypertrophic cardiomyopathy (HCM). Double heterozygosity can be a cause of the wellknown clinical diversity within HCM families.
Methods and results. We describe a family in which members carry either a single mutation or are double heterozygous for mutations in myosin heavy chain gene (MYH7) and cysteine and glycine-rich protein 3 (CSRP3). The described family emphasises the idea of a more severe clinical phenotype with double-heterozygous mutations. It also highlights the importance of cardiological screening where NT-proBNP may serve as an added diagnostic tool.
Conclusion. With a more severe inexplicable phenotype of HCM within a family, one should consider the possibility of double-heterozygous mutations. This implies that in such families, even when one disease-causing mutation is found, all the family members still have an implication for cardiological screening parallel to extended genetic screening. (Neth Heart J 2009;17:458–63.)