Goerss J B, Michels V V, Burnett J, Driscoll D J, Miller F, Rodeheffer R, Tajik A J, Schaid D
Department of Medical Genetics, Mayo Clinic/Mayo Foundation, Rochester, Minnesota 55905, USA.
Eur Heart J. 1995 Dec;16 Suppl O:2-4. doi: 10.1093/eurheartj/16.suppl_o.2.
Based on evaluation of 59 probands and their families, we previously demonstrated that over 20% of patients with idiopathic dilated cardiomyopathy (DCM) have familial disease. We acquired 36 additional probands and found familial disease in 24.2% of the 95 probands in this expanded consecutively ascertained cohort. The family history, as reported by the patient and relatives, is often an unreliable indicator of familial disease because patients may be unaware of the significance of a family history of sudden death, arrhythmia or stroke. We demonstrate that careful family history with review of medical records identifies more familial cases than merely asking the patient if there is a family history of DCM. However, even such a careful family history does not identify all familial cases. Some familial cases are identified only by echocardiographic investigation of asymptomatic relatives. We found no clinical attributes of probands, other than family history, which predicted familial disease.
基于对59名先证者及其家族的评估，我们之前证明，超过20%的特发性扩张型心肌病（DCM）患者患有家族性疾病。我们又纳入了36名先证者，在这个连续确定的扩大队列中的95名先证者中，有24.2%发现患有家族性疾病。患者及其亲属报告的家族病史往往是家族性疾病的不可靠指标，因为患者可能没有意识到猝死、心律失常或中风家族史的重要性。我们证明，仔细询问家族病史并查阅医疗记录比仅仅询问患者是否有DCM家族史能发现更多的家族性病例。然而，即使是这样仔细的家族病史也不能识别所有的家族性病例。一些家族性病例仅通过对无症状亲属的超声心动图检查才能发现。除家族史外，我们未发现先证者有其他可预测家族性疾病的临床特征。
