Opportunistic Genetic Screening for Familial Hypercholesterolemia in Heart Transplant Patients.

ABSTRACT: Heart transplantation remains the gold standard for the treatment of advanced heart failure (HF). Identification of the etiology of HF is mandatory, as the specific pathology can determine subsequent treatment. Early identification of familial hypercholesterolemia (FH), the most common genetic disorder associated with premature cardiovascular disease, has a potential important impact on clinical management and public health. We evaluated the genetic information in the genes associated with FH in a cohort of 140 heart-transplanted patients. All patients underwent NGS genetic testing including LDLR, APOB, and PCSK9. We identified four carriers of rare pathogenic variants in LDLR and APOB. Although all four identified carriers had dyslipidemia, only the one carryin

SUBMITTER: Salgado M 

PROVIDER: S-EPMC9917546 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature