see Clinical predictors of genetic testing outcomes in hypertrophic cardiomyopathy

The risk of sudden death in individuals with hypertrophic cardiomyopathy (HCM), particularly young athletes, is alarmingly high. But only about half of patients with a clinical diagnosis ever receive a definitive genetic diagnosis. In a 10-year analysis of Australian HCM patients published in this issue, Ingles and colleagues from three major specialized cardiac genetic clinics in Australia found that a genetic diagnosis is much more likely in patients with a family history of HCM than in those without such a history. Of those with an established family history of HCM, 102 (72%) received a definitive diagnosis, compared with 36 (29%) of patients with no family history. The mutation-detection rate for those with a family history of HCM increased to 89% among individuals with family members who had died suddenly. The authors identified causative mutations in 10 genes, with MYBPC3 and MYH7 accounting for more than 50% of cases. They note that the large difference in mutation-detection rate has direct clinical relevance because patients can be more appropriately counseled regarding their likelihood of receiving a genetic diagnosis based on their family history. The results may also assist in developing an algorithm to assess HCM patients’ risk of heart failure or sudden death. —Karyn Hede, News Editor

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