Many patients with HCM are asymptomatic and identified through screening. Clinical evaluation may be triggered by a family history of sudden cardiac death, an abnormal EKG, a heart murmur on physical examination, symptom onset, or during an evaluation unrelated to HCM. According to the 2020 American Heart Association/American College of Cardiology guidelines, genetic testing and counseling, as well as detailed family history, is considered a standard part of the clinical evaluation of HCM in patients and their families. Genetic testing has several benefits, such as confirming the diagnosis, guiding reproductive decisions, identifying family members that require ongoing surveillance, and ruling out HCM phenocopies.
Guidelines recommend initial testing of the proband (patient diagnosed with HCM) for the eight common sarcomere mutations. Beta-myosin heavy chain (MYH7) and myosin-binding protein C3 (MYBPC3) genes account for 70% of patients with pathogenic mutations. If the proband is positive, testing is offered to at-risk family members. If genetic testing does not identify a pathological variant, there is no indication for genetic testing in first-degree relatives.
Learn more about hypertrophic cardiomyopathy.
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Cite this: Jamshid Shirani. Fast Five Quiz: Hypertrophic Cardiomyopathy Workup - Medscape - Apr 13, 2022.