Identification of Undetected Monogenic Cardiovascular Disorders.

ABSTRACT:

Background

Monogenic diseases are individually rare but collectively common, and are likely underdiagnosed.

Objectives

The purpose of this study was to estimate the prevalence of monogenic cardiovascular diseases (MCVDs) and potentially missed diagnoses in a cardiovascular cohort.

Methods

Exomes from 8,574 individuals referred for cardiac catheterization were analyzed. Pathogenic/likely pathogenic (P/LP) variants associated with MCVD (cardiomyopathies, arrhythmias, connective tissue disorders, and familial hypercholesterolemia were identified. Electronic health records (EHRs) were reviewed for individuals harboring P/LP variants who were predicted to develop disease (G+). G+ individuals who did not have a documented relevant diagnosis were classified into groups of wh

SUBMITTER: Abdulrahim JW 

PROVIDER: S-EPMC7428466 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature