Table 4a.

Guidelines for Clinical Screening of Asymptomatic Family Members of a Proband With a Known HCM-Related Pathogenic Variant

Genetic StatusAge of Asymptomatic Relative 1Risk for Developing HCMWhen To Initiate ScreeningRepeat EKG & 2D Echo 2
Heterozygous for the familial HCM-related pathogenic variantChildren & adolescentsHigh 3At the time HCM is diagnosed in another family memberEvery 1-2 yrs
AdultsEvery 3-5 yrs
Not heterozygous for the familial HCM-related pathogenic variantChildren & adolescentsNot at ↑ riskMay be discharged from cardiac surveillanceNA
Adults

Adapted from Ommen et al [2020]

Echo = echocardiography; EKG = electrocardiogram; NA = not applicable

1.

Includes first-degree relatives. May include more distant relatives based on clinical judgment.

2.

Screening interval may be modified based on symptom development and/or family history

3.

Lorenzini et al [2020] found ~50% penetrance over 15 years of follow up in at-risk relatives who were heterozygous for the familial HCM-related pathogenic variant.

From: Hypertrophic Cardiomyopathy Overview

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