Valvular & structural heart diseaseCohort study
Aortic Stenosis in Homozygous Familial Hypercholesterolemia
- Canadian Homozygous Familial Hypercholesterolemia (HoFH) Registry
- data collected prospectively since 2008
- reports retrieved from medical records
Authors' conclusion
Moderate-to-severe aortic stenosis was observed in 27.0% of patients in the Canadian HoFH Registry, with 20.6% requiring invasive intervention. The severe aortic phenotype associated with HoFH requires complex, multidisciplinary surgical management in specialized centers with appropriate expertise.
Study context
- Population
- Canadian patients with homozygous familial hypercholesterolemia (HoFH)patients with clinical diagnosis or genetic confirmation of HoFH · clinical diagnosis 14 · genetic confirmation 49
- Participants
- 63 patients
Main finding
As reported in the abstract
Age at diagnosis
median age at diagnosis (Q1-Q3: 6.0 to 31.0)
14.0 years
Observational data: associations, not effects.
Further findings
Highest recorded LDL cholesterol
- median highest recorded low-density lipoprotein cholesterol level (Q1-Q3: 10.6-16.3)
- 13.0 mmol/L
Moderate-to-severe aortic stenosis
- patients who developed moderate-to-severe aortic stenosis
- 17 patients (27.0%)
Aortic phenotype
- Extensive calcification of the aortic valve and ascending aorta, with valvular and/or supravalvular and coronary ostial stenosis, necessitated complex and often consecutive surgical procedures
Transcatheter aortic valve replacement
- transcatheter aortic valve replacements performed
- Six
- patients
- 4
- of the replacements, failed
- 4
Surgical aortic valve procedure
- patients who underwent at least 1 surgical aortic valve procedure
- Thirteen patients (20.6%)
Age at onset of aortic stenosis
- aortic stenosis developed at a young age despite intensive treatment, including lipoprotein apheresis started at an early age
Original publication
Aortic Stenosis in Homozygous Familial Hypercholesterolemia. JACC Adv. Published 23 January 2026. doi:10.1016/j.jacadv.2025.102505
Summarised from the published abstract; every number is checked against it