Cardiomyopathy genetic testing: insights into demographics, counseling, and cascade screening.

ABSTRACT:

Background

Genetic testing (GT) is clinically indicated for patients with suspected inherited cardiomyopathy (CM) but is underutilized.

Methods

This single-center study included patients with CM who underwent outpatient GT from 2018 to 2023. Data were collected from the medical record.

Results

A total of 306 patients were included, with a mean age of 62 years and were predominantly male (63%) and White (59%). Heart failure (92%) cardiologists were most likely to order testing, followed by general cardiology (5%) providers at tertiary hospital clinics (89%). The most common phenotypes were hypertrophic (30%), amyloid (29%) and dilated (21%). There were 17% of patients who had a positive test and 53% of patients who had a variant of uncertain significance. Patients with

SUBMITTER: Bui QM 

PROVIDER: S-EPMC12026082 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature