Fast Five Quiz: Hypertrophic Cardiomyopathy Presentation and Diagnosis

Jamshid Shirani, MD


July 30, 2021

Family members of a patient in whom genetic testing results are negative do require clinical screening at regular intervals because the time from genetic diagnosis to clinical HCM varies within and between families.

Individuals with genotype-positive, phenotype-negative disease carry a pathogenic or likely pathogenic HCM-causing variant but are asymptomatic without evidence of left ventricular hypertrophy on cardiac imaging; these patients are considered to have preclinical HCM and require routine cardiac surveillance.

Among patients with HCM and a pathogenic sarcomere gene variant, the two most common genes are MYH7 and MYBPC3. Others, including MYL2, MYL3, TNNI3, TNNT2, TPM1, and ACTC1, each account for a small proportion of patients with HCM.

The diversity of HCM-associated variants means that the specific genotype cannot be used to determine prognosis.

Learn more about HCM clinical practice guidelines.


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