In contrast to the challenges that frustrate the complete genetic delineation of complex common diseases (e.g. type 2 diabetes mellitus or coronary disease),[1–3] there has been extensive success in the delineation of highly penetrant loci in rarer disorders that conform to Mendelian inheritance. Linkage studies in multi‐case, multi‐generation families have identified >1,300 of such causal genes. Hypertrophic cardiomyopathy (HCM) represents the first, and hence perhaps best‐known, example of an inherited cardiac disorder to be understood in this way and its study has epitomized the application of genetics to cardiovascular disease.[5, 6]
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