对304个家族性扩张型心肌病家族进行评估的临床特征。

Clinical characteristics of 304 kindreds evaluated for familial dilated cardiomyopathy.

作者信息

Kushner Jessica D, Nauman Deirdre, Burgess Donna, Ludwigsen Susan, Parks Sharie B, Pantely George, Burkett Emily, Hershberger Ray E

机构信息

Division of Cardiology, Department of Medicine, Oregon Health & Science University, Portland, Oregon 97239, USA.

出版信息

J Card Fail. 2006 Aug;12(6):422-9. doi: 10.1016/j.cardfail.2006.03.009.

DOI:10.1016/j.cardfail.2006.03.009

PMID:16911908

Abstract

BACKGROUND

Familial dilated cardiomyopathy (FDC) is dilated cardiomyopathy of unknown cause occurring in 2 or more closely related family members.

METHODS AND RESULTS

Members of 304 families suspected to have FDC were evaluated by family history (FH) and medical record review and were categorized as affected with idiopathic dilated cardiomyopathy (IDC), unaffected, unknown, or no data. Pedigrees were categorized with confirmed FDC, probable FDC, possible FDC or IDC based on strength of evidence. Of the 304 pedigrees, 125 were categorized as confirmed FDC, 48 were probable FDC, 72 were possible FDC, and 59 had sporadic, nonfamilial IDC. Numbers of living first- and second-degree family members, and median number of relatives available for FH was greatest with confirmed FDC, and diminished for probable and possible FDC, and IDC categories. LV dimensions increased and LV function worsened in index patients along the spectrum from confirmed FDC, probable FDC, possible FDC and IDC, and a greater proportion of IDC patients underwent heart transplant. However, the age of onset, duration of disease, the time to death or heart transplant, and most other findings were similar among the 4 categories.

CONCLUSION

Clinical characteristics of IDC and FDC are similar, precluding an FDC diagnosis from clinical features only.

摘要

背景

家族性扩张型心肌病（FDC）是指病因不明的扩张型心肌病，发生在两个或更多有密切血缘关系的家庭成员中。

方法与结果

通过家族史（FH）评估和病历审查对304个疑似患有FDC的家庭的成员进行评估，并将其分类为患有特发性扩张型心肌病（IDC）、未患病、情况不明或无相关数据。根据证据强度，将家系分类为确诊FDC、可能FDC、疑似FDC或IDC。在这304个家系中，125个被分类为确诊FDC，48个为可能FDC，72个为疑似FDC，59个患有散发性、非家族性IDC。确诊FDC的存活一级和二级家庭成员数量以及可用于家族史调查的亲属中位数最多，而可能FDC、疑似FDC和IDC类别的这一数量则减少。从确诊FDC、可能FDC、疑似FDC到IDC，指数患者的左心室尺寸增加，左心室功能恶化，并且更高比例的IDC患者接受了心脏移植。然而，发病年龄、病程、死亡或心脏移植时间以及大多数其他结果在这4类患者中相似。