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Support HCM Research

There are two strategies to screen relatives of a patient.

Strategy #1: Since HCM has an autosomal dominant mode of inheritance, first-degree family members have a 50% chance of inheriting an HCM gene. It is recommended that first-degree family members have an echocardiogram and electrocardiogram to screen for inheritance of the disease, even if they are asymptomatic. For adolescents, we recommend an echocardiogram and an EKG starting at age 10 and then every 18 months till age 21. If HCM has not been detected by then, the frequency of screening echocardiograms and EKGs should be decreased, to every five years. If HCM is detected, we recommend that individuals not partipate in competitive athletics.

Strategy #2: Alternatively, molecular genetic testing is positive in roughly 50% of HCM patients. This has now become commercially available. If an HCM causing gene is detected in the proband (the initial patient) then screening of first-degree relatives is greatly simplified, and is less expensive. Also, finding an abnormal gene sometimes clinches an uncertain diagnosis.

Commercial laboratories have entered this field: