Valvular & structural heart disease
Aortic Stenosis in Homozygous Familial Hypercholesterolemia: The Canadian Homozygous Familial Hypercholesterolemia (HoFH) Registry
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
- Outcome
- Age at diagnosis
Methodological detailsdata collected prospectively since 2008, reports retrieved from medical records
- Data collected prospectively since 2008
- Reports retrieved from medical records
Main finding
As reported in the abstract
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
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