Clinical profiles of four large pedigrees with familial dilated cardiomyopathy - Preliminary recommendations for clinical practice
Clinical profiles of four large pedigrees with familial dilated cardiomyopathy - Preliminary recommendations for clinical practice
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DOI：
10.1016/s0735-1097(99)00276-4
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发表时间：
1999-09-01
影响因子：
24
通讯作者：
Hershberger, RE
中科院分区：
文献类型：
--
作者：
Crispell, KA;Wray, A;Hershberger, RE
目的 本研究旨在描述四名最初诊断为特发性扩张型心肌病 (IDC) 的患者家庭中家族性扩张型心肌病 (FDC) 的临床特征，并为治疗这些疾病的医生提供临床实践建议。 背景 最近的证据表明，大约一半的诊断为 IDC 的患者患有 FDC，这是一种遗传性传染性疾病，但在美国筛查 FDC 的家庭的临床特征尚未得到证实。有据可查。此外，最近的伦理指南建议增加照顾新发现的遗传性心血管疾病患者的责任。方法在确定了四个患有FDC的家庭后，我们进行了临床筛查，包括病史、体格检查、心电图和超声心动图。无症状家庭成员受 FDC 影响的诊断标准是基于左心室扩大 (LVE)。具有令人困惑的心血管诊断或体重指数 > 35 的受试者被排除在外。 结果 我们从四个 FDC 谱系中识别出 798 名在世成员，并筛查了 216 名成人和 129 名儿童（年龄
OBJECTIVES This study aimed to characterize the clinical profile of familial dilated cardiomyopathy (FDC) in the families of four index patients initially diagnosed with idiopathic dilated cardiomyopathy (IDC) and to provide clinical practice recommendations for physicians dealing with these diseases.BACKGROUND Recent evidence indicates that approximately one-half of patients diagnosed with IDC will have FDC, a genetically transmissible disease, but the clinical profile of families screened for FDC in the U.S, has not been well documented. Additionally, recent ethical guidelines suggest increased responsibilities in caring for patients with newly found genetic cardiovascular disease.METHODS After identification of four families with FDC, we undertook clinical screening including medical history, physical examination, electocardiogram and echocardiogram. Diagnostic criteria for FDC-affected status of asymptomatic family members was based on left ventricular enlargement (LVE). Subjects with confounding cardiovascular diagnoses or body mass indices >35 were excluded.RESULTS We identified 798 living members from the four FDC pedigrees, and screened 216 adults and 129 children (age