Michels V V, Moll P P, Rodeheffer R J, Miller F A, Tajik A J, Burnett J C, Driscoll D J, Thibodeau S N, Ansari A A, Herskowitz A
Department of Medical Genetics, Mayo Clinic Rochester, MN 55905.
Mayo Clin Proc. 1994 Jan;69(1):24-7. doi: 10.1016/s0025-6196(12)61607-3.
Idiopathic dilated cardiomyopathy (DCM) is a serious heart disease characterized by enlargement of one or both ventricles and ventricular dysfunction. Although most patients have sporadic disease, 20% have been found to have familial DCM when relatives are investigated by echocardiography. No other factors have been identified to date that consistently distinguish familial from nonfamilial DCM. Although some patients have a family history of DCM, a "negative" family history does not exclude familial DCM because affected family members may be presymptomatic or undiagnosed. Because some patients have life-threatening complications at the time of initial assessment of DCM, identifying a serum marker predictive of familial disease would help determine which families would most likely benefit from echocardiographic investigation.
In this study, our objective was to determine whether antiheart autoantibodies could be used to distinguish familial from nonfamilial idiopathic DCM.
We analyzed serum specimens for antiheart antibodies from 19 patients categorized as having familial DCM and 15 classified as having nonfamilial DCM on the basis of echocardiographic investigation of first-degree relatives. The mean duration of disease in these 34 patients was 50 months at the time the serum specimens were obtained.
Titers of antibodies against the adenine nucleotide translocator, branched-chain keto acid dehydrogenase, and cardiac myosin did not distinguish between familial and nonfamilial cases of DCM.
特发性扩张型心肌病(DCM)是一种严重的心脏病,其特征为一个或两个心室扩大及心室功能障碍。尽管大多数患者患有散发性疾病,但当通过超声心动图对亲属进行检查时,发现20%的患者患有家族性DCM。迄今为止,尚未发现其他能够持续区分家族性和非家族性DCM的因素。虽然一些患者有DCM家族史,但“阴性”家族史并不能排除家族性DCM,因为受影响的家庭成员可能处于症状前期或未被诊断出来。由于一些患者在初次评估DCM时就有危及生命的并发症,因此识别一种预测家族性疾病的血清标志物将有助于确定哪些家庭最有可能从超声心动图检查中获益。
在本研究中,我们的目的是确定抗心脏自身抗体是否可用于区分家族性和非家族性特发性DCM。
我们分析了19例经超声心动图检查一级亲属后被归类为家族性DCM患者和15例被归类为非家族性DCM患者的血清标本中的抗心脏抗体。在获取血清标本时,这34例患者的平均病程为50个月。
针对腺嘌呤核苷酸转位酶、支链酮酸脱氢酶和心肌肌球蛋白的抗体滴度并不能区分家族性和非家族性DCM病例。