Hypertrophic Cardiomyopathy and Public Health: An Expanding List of Tier 1 Genomic Applications

Hypertrophic cardiomyopathy is a relatively common, inherited disorder that results in abnormal thickening of the heart walls. This can lead to heart failure, atrial fibrillation, and sudden death due to ventricular arrhythmias. In many cases, hypertrophic cardiomyopathy is caused by a mutation in one of the genes that make up the cardiac sarcomere, and only a single copy of a defective gene is needed for the disorder to develop (autosomal dominant inheritance). Hypertrophic cardiomyopathy has been estimated to affect about 1 in 500 people globally.

While there may be a dearth of evidence on testing for many genetic conditions, for hypertrophic cardiomyopathy, multiple evidence-based recommendations support the evaluation of family history, cascade genetic testing in relatives, and genetic counseling of affected individuals as Tier 1 genomic applications.

This seminar will briefly describe the CDC Tier-Classified Guideline Database, which currently includes three Tier 1 guidelines (the latest published less than one year ago, in December, 2020) addressing hypertrophic cardiomyopathy. The primary focus of the seminar will be on the genetics of hypertrophic cardiomyopathy and the nexus between genetics and clinical traits. A short primer on the disease process for hypertrophic cardiomyopathy will also be included.