Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy
Periodic rescreening is indicated for family members at risk of developing familial dilated cardiomyopathy
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DOI：
10.1016/s0735-1097(02)01788-6
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发表时间：
2002-05-01
影响因子：
24
通讯作者：
Hershberger, RE
中科院分区：
文献类型：
--
作者：
Crispell, KA;Hanson, EL;Hershberger, RE
家族性扩张型心肌病是一种遗传性心肌病，通常以常染色体显性遗传方式传播，可能是特发性扩张型心肌病（IDC）诊断的四分之一到一半的基础。因此，FDC可能出现晚期心力衰竭（HF）或心源性猝死（SCD）。由于FDC可能对医疗干预有反应，我们以前建议对一级亲属进行筛查，对诊断为IDC的患者（父母、兄弟姐妹、子女）进行筛查以排除FDC，对诊断为FDC的亲属、未受影响但有风险的家庭成员进行重新筛查，甚至3 ~ 5年。对一个FDC大家族的6名成员在初筛6年后进行病史、体格检查、心电图、超声心动图检查。（1例仅左心室增大，1例左束支分支传导阻滞）分别表现为晚期HF和SCD。另外两个受试者，在初步筛选时无症状，也受到影响，FDC在follow-up.CONCLUSIONS相当警惕疾病的介绍和进展是指在危险的成员与FDC的亲属，特别是那些初期FDC。(C)2002年，美国心脏病学会基金会。
OBJECTIVES This study evaluated the role of clinical rescreening of family members at risk for familial dilated cardiomyopathy (FDC).BACKGROUND Familial dilated cardiomyopathy is a genetic cardiomyopathy that usually is transmitted in an autosomal dominant pattern and may underlie from one-quarter to one-half of idiopathic dilated cardiomyopathy (IDC) diagnoses. Thus, FDC may present with advanced heart failure (HF) or sudden cardiac death (SCD). Because FDC may respond to medical intervention, we have previously recommended that screening of first-degree relatives (parents, siblings, children) of patients diagnosed with IDC be undertaken to rule out FDC, and that with a diagnosis of FDC in the kindred, unaffected but at-risk family members be rescreened even, three to five years.METHODS Follow-up screening (history, examination, electrocardiogram, echocardiography) of a large family with FDC was performed six years after initial screening.RESULTS Of 6 family members who underwent rescreening, two (one with left ventricular enlargement only, one with a left bundle branch block) presented with advanced HF and SCD, respectively. Two additional subjects, asymptomatic at initial screening, were also affected with FDC at follow-up.CONCLUSIONS Considerable vigilance for disease presentation and progression is indicated in at-risk members of a kindred with FDC, especially those with incipient FDC. (C) 2002 by the American College of Cardiology Foundation.