Aortic Stenosis in Homozygous Familial Hypercholesterolemia: The Canadian HoFH Registry.

ABSTRACT:

Background

Homozygous familial hypercholesterolemia (HoFH) is a rare genetic disorder characterized by extreme elevations in low-density lipoprotein cholesterol levels and premature cardiovascular disease.

Objectives

The objective of this study was to assess the prevalence, clinical presentation, and current therapeutic approaches for aortic stenosis in Canadian patients with HoFH.

Methods

Demographic data, lipid profiles, and genetic testing results for patients with HoFH were collected prospectively since 2008. Reports from echocardiography, cardiac catheterization, and surgical or transcatheter interventions involving the aortic valve and/or ascending aorta were retrieved from medical records.

Results

Data were available for 63 patients with either a clinica

SUBMITTER: Erzingatzian A 

PROVIDER: S-EPMC12860983 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature