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Published on: February 4, 2021
Calcified Aortic Valve Disease in Patients With Familial Hypercholesterolemia
Haochang Hu1,2, Ji Cheng1,2, Shaoyi Lin1,2
1School of Medicine, Ningbo University, Ningbo, Zhejiang, China; and.
Insights
Familial hypercholesterolemia (FH) patients often develop calcified aortic valve disease (CAVD). This review details CAVD
Area of Science:
- Cardiovascular Medicine
- Genetics
- Biochemistry
Background:
- Familial hypercholesterolemia (FH) is a genetic disorder causing high LDL cholesterol and premature heart disease.
- Calcified aortic valve disease (CAVD) is common in FH patients, leading to significant health issues.
- CAVD pathogenesis shares risk factors with atherosclerosis, but its specifics in FH remain unclear.
Purpose of the Study:
- To review the pathophysiology and molecular mechanisms of CAVD in FH.
- To identify risk factors associated with CAVD development in FH patients.
- To summarize current and potential therapeutic strategies for CAVD in FH.
Main Methods:
- Literature review of pathophysiology, molecular mechanisms, risk factors, and treatments.
- Synthesis of existing research on CAVD in the context of FH.
- Analysis of current therapeutic approaches and their limitations.
Main Results:
- FH is linked to increased prevalence of CAVD due to dyslipidemia and other factors.
- Aortic valve calcification is an active process influenced by shared risk factors with atherosclerosis.
- Current treatments for severe CAVD in FH are limited, primarily to aortic valve replacement.
Conclusions:
- Understanding CAVD in FH is crucial due to its prevalence and impact.
- Further research is needed to elucidate specific mechanisms and develop targeted therapies.
- Effective management of FH and its cardiovascular complications, including CAVD, requires a comprehensive approach.
Abstract:
Familial hypercholesterolemia (FH) is a rare autosomal gene deficiency disease with increased low-density lipoprotein cholesterol, xanthoma, and premature coronary heart disease. Calcified aortic valve disease (CAVD) is prevalent in FH patients, resulting in adverse events and heavy health care burden. Aortic valve calcification is currently considered an active biological process, which shares several common risk factors with atherosclerosis, including aging, hypertension, dyslipidemia, and so on. Unfortunately, the pathogenesis and therapy of CAVD in FH are still controversial. There is no pharmacological intervention recommended to delay the development of CAVD in FH, and the only effective treatment for severe CAVD is aortic valve replacement. In this review, we summarize the detailed description of the pathophysiology, molecular mechanism, risk factors, and treatment of CAVD in FH patients.
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