Gardner R J, Hanson J W, Ionasescu V V, Ardinger H H, Skorton D J, Mahoney L T, Hart M N, Rose E F, Smith W L, Florentine M S
Am J Med Genet. 1987 May;27(1):61-73. doi: 10.1002/ajmg.1320270108.
We describe a family in which there is segregating an autosomal dominant gene determining a cardiomyopathy. The pathodynamics is that of pump failure associated with dilatation of the heart, generally having an overt clinical onset from the fourth through seventh decades. Dysrhythmia is a frequent concomitant feature. There may be an associated skeletal myopathy, either producing a very mild proximal weakness or proving detectable only upon biopsy. This family is similar to other reported cases of familial dominant "idiopathic" dilated cardiomyopathy, but the nature of the heterogeneity within this category remains to be elucidated. The roles of echocardiography, cardiac biopsy, and skeletal muscle biopsy in the presymptomatic detection of the heterozygote are noted.
我们描述了一个家族，其中存在一个常染色体显性基因，该基因决定了一种心肌病。病理动力学表现为与心脏扩张相关的泵衰竭，通常在40到70岁之间有明显的临床发病。心律失常是常见的伴随特征。可能存在相关的骨骼肌病，要么导致非常轻微的近端肌无力，要么仅在活检时才能检测到。这个家族与其他报道的家族性显性“特发性”扩张型心肌病病例相似，但这类疾病的异质性本质仍有待阐明。文中提到了超声心动图、心脏活检和骨骼肌活检在症状前检测杂合子中的作用。
