三血管冠状动脉疾病伴家族性高同型半胱氨酸血症

IF 0.2 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS
Suvir Singh, B. Mohan
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引用次数: 1

摘要

同型半胱氨酸是一种巯基氨基酸,在多个流行病学研究中与心血管疾病的发病机制有关。然而,同型半胱氨酸单独升高并不会导致需要紧急干预的严重冠状动脉疾病。我们报告一个以前无症状的55岁的绅士谁提出了急性心肌梗死与心动过缓,并被发现有三支血管冠状动脉疾病的血管造影。病情稳定后,鉴于病情严重,他接受了冠状动脉旁路移植术。一项全面的评估显示,除了血清同型半胱氨酸升高外,所有传统的危险因素都不存在。家庭成员的评估也显示他的儿子和妻子的同型半胱氨酸水平升高。亚甲基四氢叶酸还原酶(MTHFR)基因突变检测显示,患者的Q429A基因为纯合突变,其两个儿子的A222V和Q429A基因为杂合突变。患者顺利出院,随访9个月后恢复良好。同型半胱氨酸与其他传统危险因素协同作用,与心血管疾病的发病机制有关。这是一种罕见的家族性高同型半胱氨酸血症,表现为严重的冠状动脉疾病和所有家族成员的同型半胱氨酸水平升高。孤立的同型半胱氨酸水平升高可能导致严重的心血管疾病,如果没有其他危险因素存在,应进行检查。这可能有助于筛查患者和家庭成员潜在的MTHFR突变。在缺乏前瞻性证据的情况下,提供多种维生素以试图降低同型半胱氨酸水平似乎没有什么危害。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Triple-Vessel Coronary Artery Disease Associated with Familial Hyperhomocysteinemia
Homocysteine is a sulfhydryl containing amino acid implicated in the pathogenesis of cardiovascular disease in multiple epidemiologic studies. However, elevated homocysteine in isolation is not known to lead to severe coronary artery disease requiring emergency intervention. We report a previously asymptomatic 55-year-old gentleman who presented with an acute myocardial infarction with bradycardia and was found to have triple-vessel coronary artery disease on angiography. After stabilization, he underwent a coronary artery bypass grafting in view of the severity of disease. A thorough evaluation revealed the absence of all traditional risk factors except elevated serum homocysteine. The evaluation of family members also revealed elevated homocysteine levels in both his sons and wife. Mutation testing of the methylenetetrahydrofolate reductase (MTHFR) gene showed homozygous Q429A mutation in the patient and heterozygous A222V and Q429A mutation in both his sons. The patient was discharged successfully and is well after 9 months of follow-up. Homocysteine has been implicated in the pathogenesis of cardiovascular disease in synergy with other traditional risk factors. This is a rare presentation of familial hyperhomocysteinemia presenting with severe coronary artery disease and elevated homocysteine levels in all family members. Elevated homocysteine levels in isolation may lead to significant cardiovascular disease and should be checked if no other risk factors are present. It may be useful to screen the patient and family members for underlying MTHFR mutations. In the absence of prospective evidence, there appears to be little harm in providing multivitamins to attempt to reduce homocysteine levels.
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来源期刊
Research in Cardiovascular Medicine
Research in Cardiovascular Medicine CARDIAC & CARDIOVASCULAR SYSTEMS-
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