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During the past 25 years, major advances have been made in our understanding of the genetic basis of hypertrophic cardiomyopathy (HCM). Although being a disease that was defined as a tumor of the heart by Donald Teare in 1958,1 our genetic advances have led to a complete redefinition of HCM as a complex nonsyndromic genetic disorder characterized by unexplained left ventricular hypertrophy, in the absence of loading conditions. To date, >1300 mutations in ≥13 disease genes have been identified in patients with HCM.2 These disease genes encode primarily sarcomere and sarcomere-related proteins and are almost exclusively inherited in an autosomal dominant pattern, with some isolated reports of autosomal recessive HCM.3 Collectively, these findings have led to the description of HCM as a disease of the sarcomere.4 Although current genetic testing strategies in HCM lead to an overall pathogenic mutation detection rate of ≤50%, the presence of a family history of HCM and sudden death because of HCM can increase the mutation detection rate to >75%.5 However, many families with HCM have no causative mutation identified. To this end, efforts to identify the remaining as yet unidentified genes are to be commended and are at the forefront of novel gene discoveries in HCM.Article see p 543In this issue of Circulation: Cardiovascular Geneti cs, Hartmannova et al6 present findings from a large 4-generation Czech family characterized by 4 male individuals with nonobstructive HCM with severe left ventricular diastolic dysfunction and evidence of end-stage disease. Two of these 4 men required heart transplantation. In an attempt to identify a …

Expanding the Genetic Spectrum of Hypertrophic Cardiomyopathy: X Marks the Spot