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This editorial refers to ‘Early identification of mutation carries in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging’[†][1], by E. Gandjbakhch et al. , on page 1599 Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease, encompassing a particularly heterogeneous disease spectrum.1,2 The most recently defined subgroup, which has added considerably to this diversity,3 is a product of the molecular era in cardiovascular disease,4–9 i.e. mutation carriers without the HCM phenotype of left ventricular (LV) hypertrophy. These individuals, who carry mutations in genes encoding proteins of cardiac sarcomere judged to be disease causing, are usually asymptomatic relatives in HCM families, and variously described as ‘gene positive(+) phenotype negative(–)’, ‘mutation carriers’, or with ‘preclinical’ disease.10–16Gandjbakhch et al. 17 underscore the importance of this novel HCM subgroup with clinical studies in mutation carriers, utilizing echocardiographic and Doppler parameters. In the earliest days of molecular biology in HCM, a time period which now spans two decades, such family members were sporadically identified as part of specific pedigree studies and protocols performed in selected research laboratories in the USA, Europe, and Japan. However, more recently, molecular diagnosis has become much more available due to the evolution of commercial testing, currently available from four companies in the USA.Since it is now … [1]: #fn-2

Emergence of gene mutation carriers and the expanding disease spectrum of hypertrophic cardiomyopathy