Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

ABSTRACT:

Aims

Hypertrophic cardiomyopathy (HCM) is characterized by phenotypic heterogeneity that is partly explained by the diversity of genetic variants contributing to disease. Accurate interpretation of these variants constitutes a major challenge for diagnosis and implementing precision medicine, especially in understudied populations. The aim is to define the genetic architecture of HCM in North African cohorts with high consanguinity using ancestry-matched cases and controls.

Methods and results

Prospective Egyptian patients (n = 514) and controls (n = 400) underwent clinical phenotyping and genetic testing. Rare variants in 13 validated HCM genes were classified according to standard clinical guidelines and compared with a prospective HCM cohort of majority European ancestry

SUBMITTER: Allouba M 

PROVIDER: S-EPMC10733735 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature