Calcified Aortic Valve Disease in Patients With Familial Hypercholesterolemia

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.

Two Novel Disease-Causing Mutations in the LDLR of Familial Hypercholesterolemia

“…As a typical disease of abnormal cholesterol metabolism, FH is a significant risk factor in the occurrence and development of cardiovascular disease ( Hu et al, 2020 ). With the advancement of molecular technology, some FH patients have undergone genetic testing to elucidate the pathogenic mechanism.…”

Should We Be Screening for Ischaemic Heart Disease Earlier in Childhood?

“…FHC was the term coined by Carl Muller in 1938 to term the association of hypercholesterolemia, tendon xanthomas, xanthelasmas and occurrence of early ischaemic heart disease. Calcified aortic valve disease is not rare either [ 65 , 66 ]. LDL receptor (LDL-R) discovery by Goldstein and Brown in 1985 was the cornerstone to understand pathophysiology of LDL accumulation and atherosclerosis development [ 67 , 68 , 69 ].…”

Developing a Hybrid Risk Assessment Tool for Familial Hypercholesterolemia: A Machine Learning Study of Chinese Arteriosclerotic Cardiovascular Disease Patients

“…Details for specific items have also been provided in the DLCN [2] MEDPED [3] JFHMC [4] LDL-C/TC [5] AHA [6] SCCFH [7] Lp(a)+DLCN [8] mDLCN [9] TW [10] CHC [11] Lipid levels Physical examination SBR [1], Simon Broome Register; DLCN [2], Dutch Lipid Clinic network; MEDPED [3], make early diagnosis to prevent early deaths; JFHMC [4], Japanese FH Management Criteria; LDL-C/TC [5], TC&LDL-c; AHA [6], American Heart Association; Lp(a)DLCN [7], Lp(a)add DLCN; SCCFH [8], Simplified Chinese Criteria for Familial Hypercholesterolemia; mDLCN [9], modified DLCN for China; TW [10], Taiwan FH diagnostic criteria; CHC [11], 2018 Chinese criteria.…”

“…There is, however, increasing interest in FH due to growing concerns about the rising levels of cholesterol in diets ( 5 ). We know that early lipid-lowering therapies hinder the development of ASCVD ( 6 ); however, most cases are identified only after encountering an ASCVD event. Underdiagnosis and undertreatment of FH are partially due to the fact that we do not have an effective gold standard to identify high-risk patients at an early stage.…”