Milewicz D M, Chen H, Park E S, Petty E M, Zaghi H, Shashidhar G, Willing M, Patel V
Department of Internal Medicine, University of Texas-Houston Medical School, 77030, USA.
Am J Cardiol. 1998 Aug 15;82(4):474-9. doi: 10.1016/s0002-9149(98)00364-6.
Autosomal dominant inheritance of thoracic aortic aneurysms and dissections occurs in subjects with Marfan syndrome, which results from mutations in the FBN1 gene on chromosome 15. A second chromosomal locus on 3p24-25 has been identified for a Marfan-like condition with thoracic aortic aneurysms. We describe here 6 families with multiple members with thoracic aortic aneurysms and dissections in the absence of the ocular and skeletal complications of Marfan syndrome. Medical records and autopsy reports on affected subjects in families with multiple members with thoracic aortic aneurysms and dissections were reviewed. Subjects in these families at risk for developing aortic disease underwent echocardiography to evaluate the aorta. The pattern of inheritance of thoracic aortic aneurysms and dissections was autosomal dominant in these families. Most affected subjects presented with aortic root dilatation or acute type I dissection, but the age of onset of disease was variable and there was decreased penetrance of the disorder. In 2 of the families, the syndrome was not linked to FBN1 or 3p24-25. Familial thoracic aortic aneurysm and dissection is an autosomal dominant condition with marked variability in the age of onset of aortic disease and decreased penetrance, making identification of affected subjects difficult. This condition is not due to mutations in the FBN1 gene or the unidentified gene on 3p24-25.
胸主动脉瘤和夹层的常染色体显性遗传发生在患有马凡综合征的个体中，该病由15号染色体上FBN1基因的突变引起。已在3p24 - 25上确定了第二个染色体位点，与一种伴有胸主动脉瘤的类马凡综合征相关。我们在此描述6个家族，这些家族中有多名成员患有胸主动脉瘤和夹层，且无马凡综合征的眼部和骨骼并发症。对有多名家成员患有胸主动脉瘤和夹层的家族中受影响个体的病历和尸检报告进行了回顾。这些家族中有患主动脉疾病风险的个体接受了超声心动图检查以评估主动脉。在这些家族中，胸主动脉瘤和夹层的遗传模式为常染色体显性。大多数受影响个体表现为主动脉根部扩张或急性I型夹层，但发病年龄各异，且该病症的外显率降低。在其中2个家族中，该综合征与FBN1或3p24 - 25无关。家族性胸主动脉瘤和夹层是一种常染色体显性病症，主动脉疾病的发病年龄差异显著且外显率降低，使得识别受影响个体变得困难。这种病症并非由FBN1基因或3p24 - 25上未确定的基因的突变引起。
