Coronary artery disease in heterozygous familial hypercholesterolemia

Hirobe, Kazuhiko; Matsuzawa, Yūji; Ishikawa, Katsunori; Tarui, Seiichiro; Yamamoto, Akira; Nambu, Seiki; Fujimoto, K

doi:10.1016/0021-9150(82)90114-9

Cited by 68 publications

(25 citation statements)

References 15 publications

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“…Previous study results have suggested that the type of underlying low density lipoprotein receptor gene mutations, gender, patient age, high density lipoprotein cholesterol levels, lipoprotein (a) levels, isoform of apolipoprotein E, smoking habits, and diabetes can significantly influence the development of CAD in heterozygous FH (16)(17)(18)(19)(20)(21)(22). In addition to them, our results suggest that the MTHFR genotype is a novel genetic risk factor.…”

Section: Mthfr Genotype and The Development Of Cadsupporting

confidence: 60%

Effect of common methylenetetrahydrofolate reductase gene mutation on coronary artery disease in familial hypercholesterolemia

Kawashiri

Kajinami

Nohara

et al. 2000

The American Journal of Cardiology

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Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterizedby primary hypercholesterolemia and premature coronary artery disease (CAD).However, the development of CAD in FH shows considerable inter-individualvariations. An elevated level of plasma homocysteine (tHcy) has been recognized as an independent risk factor for CAD, and a MTHFR gene mutation, valine (V) was substituted for alanine (A), has been reported to be associated with elevated levels of tHcy in mutant homozygotes, i.e. VV. We studied 199 consecutive male heterozygous FH patients, 99 with CAD and 100 without CAD. In CAD group, genotype VV and V allele were significantly more frequent than in non-CAD group, 15% vs 7% in genotype (p=0.035) and 0.41 vs 0.30 in allele (p=0.017). The mean ages of onset in the CAD group were 50, 51, and 43 years, for genotypes AA, AV, and VV, respectively (p<0.05); the age of onset of CAD in genotype VV was significantly lower than in other two genotypes. Kaplan-Meier survivor curves indicated that the development of CAD was significantly accelerated by MTHFR mutation probably in a gene-dose dependent manner. Furthermore, only MTHFR genotype VV was shown to be an independent predictor of the early onset of CAD in the stepwise multiple regression analysis. The mean plasma tHcy level of genotype VV was significantly higher than those of other two genotypes. Thus, the MTHFR mutation appears to accelerate the onset of CAD through elevation of plasma tHcy levels in male heterozygous FH patients.

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Section: Mthfr Genotype and The Development Of Cadsupporting

confidence: 60%

Effect of common methylenetetrahydrofolate reductase gene mutation on coronary artery disease in familial hypercholesterolemia

Kawashiri

Kajinami

Nohara

et al. 2000

The American Journal of Cardiology

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“…In the present study, we examined 10 homozygous FH patients, some of whom had moderate to severe coronary atherosclerosis, but the others of whom did not. Although it is commonly accepted that hypercholesterolemia is a coronary-oriented risk factor in both the FH and non-FH populations (3)(4)(5)(6)(7)(8)29), what is of more importance is that aortic valvular dysfunction is a highly frequent and pivotal disorder in almost all homozygous cases, and that for some homozygous patients it is a life-threatening complication. The younger male patients (Cases 3 & 7) had been suffering from severe aortic valvular dysfunction without significantly reduced coronary circulation, except for moderate coronary ostial lesions.…”

Section: Hypercholesterolemic Valvulopathymentioning

confidence: 99%

Characteristic cardiovascular manifestation in homozygous and heterozygous familial hypercholesterolemia

Kawaguchi¹,

Miyatake²,

Yutani³

et al. 1999

American Heart Journal

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“…In the young female patient groups, those with angina pectoris or myocardial ischemia showed significantly higher CSI than those without symptoms and signs (p<0.05) ( Figure 2D). Midpoint and standard deviation of CSI in five age groups (20)(21)(22)(23)(24)(25)(26)(27)(28)(29)30-39, 40-49, 50-59, and 60-70 years) were shown in Figure 3. As might be predicted from the regression equations in Figures 2D and 3 Figure 2D).…”

Section: Coronary Angiographic Studymentioning

confidence: 99%

Development of coronary heart disease in familial hypercholesterolemia.

et al. 1989

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From these data, we can assume that coronary artery stenosis detectable by angiography will occur after 17 and 25 years of age in male and female heterozygotes, respectively, and the treatment of heterozygotes with lipid-lowering drugs can be delayed until late adolescence. (Circulation 1989;79:225-332) F amilial hypercholesterolemia (FH) is a common autosomal dominant disorder caused by a mutation of the gene for the low-density lipoprotein (LDL) receptor.1 FH is frequently associated with premature coronary heart disease (CHD), and the rate of death from CHD among heterozygotes is several times higher than that among the general population.1-4 Homozygous patients do not usually survive to reach the age of 30,1,5 whereas the mean age at death for male and female heterozygotes is 54 and 65,4,6,7 respectively. There are no data, however, reporting when FH patients develop coronary heart disease documented by coronary angiography. The National Institutes of Health Consensus Development Conference on lowering cholesterol to prevent heart disease has recommended that strict dietary intervention is indicated for children with a blood cholesterol level above 200 mg/dl and that nonresponders should be considered for treatment with a lipid-lowering agent.

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Coronary artery disease in heterozygous familial hypercholesterolemia

Cited by 68 publications

References 15 publications

Effect of common methylenetetrahydrofolate reductase gene mutation on coronary artery disease in familial hypercholesterolemia

Effect of common methylenetetrahydrofolate reductase gene mutation on coronary artery disease in familial hypercholesterolemia

Characteristic cardiovascular manifestation in homozygous and heterozygous familial hypercholesterolemia

Development of coronary heart disease in familial hypercholesterolemia.

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