Expression of HCM causing mutations: Lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation

Moolman-Smook, Johanna ; De Lange, Willem ; Corfield, Valerie ; Brink, Paul (2000-12)


Genotype-phenotype correlations provide another perspective in studies seeking to identify the factors that underlie the clinical variability that is a feature of several inherited diseases. This approach has been particularly revealing in investigations into the molecular causes and phenotypic heterogeneity associated with hypertrophic cardiomyopathy (HCM), a common inherited primary cardiac disorder.1 2 Although, as its name suggests, hypertrophy may be a noticeable feature of the disease, it is not invariant, nor does the degree of hypertrophy necessarily correlate with the risk of sudden cardiac death (SCD), which is the most feared consequence of HCM.

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