Maron B J, Edwards J E, Ferrans V J, Clark C E, Lebowitz E A, Henry W L, Epstein S E
Circulation. 1975 Nov;52(5):926-32. doi: 10.1161/01.cir.52.5.926.
Asymmetric septal hypertrophy, or ASH, is a genetically determined myocardial disorder that is transmitted as an autosomal dominant trait. ASH is characterized by a disproportionately thickened ventricular septum that contains numerous hypertrophied, bizarrely-shaped and disorganized cardiac muscle cells. Disproportionate hypertrophy of the ventricular septum has also been observed in association with certain congenital cardiac malformations. To determine whether such congenital cardiac malformations are part of the disease spectrum of genetically determined ASH, cardiac pathologic observations were made in eight patients with disproportionate septal thickening (ventricular septal to posterobasal left ventricular free wall thickness ratios of 1.5 to 2.5) and the following three categories of associated lesions: 1) parachute deformity of the mitral valve (occurring either as an isolated lesion or with ventricular septal defect, coarctation of the aorta, supravalvular ring of the left atrium, or double outlet right ventricle); 2) complete interruption of the aortic arch; and 3) ventricular septal defect. The arrangement of cardiac muscle cells in the disproportionately thickened ventricular septum was normal in six of the eight patients; in the other two patients (one with parachute deformity of the mitral valve and one with ventricular septal defect) numerous bundles of hypertrophied cardiac muscle cells were interlaced in a disorganized fashion among more normally arranged bundles of cells. First degree relatives of six of the eight patients were studied by echocardiography and found to have normal ventricular wall thicknesses and septal-free wall ratios. It is concluded that disproportionate ventricular septal thickening may occur in patients with a variety of congenital heart malformations, but that such a finding is not necessarily a manifestation of the disease spectrum of genetically determined ASH.
不对称性室间隔肥厚（ASH）是一种由基因决定的心肌疾病，呈常染色体显性遗传。ASH的特征是室间隔不成比例地增厚，其中包含大量肥大、形态怪异且排列紊乱的心肌细胞。室间隔不成比例的肥厚也与某些先天性心脏畸形有关。为了确定这些先天性心脏畸形是否属于基因决定的ASH疾病谱的一部分，对8例室间隔增厚不成比例（室间隔与左心室后壁基底段游离壁厚度比为1.5至2.5）以及伴有以下三类相关病变的患者进行了心脏病理学观察：1）二尖瓣降落伞样畸形（单独出现或伴有室间隔缺损、主动脉缩窄、左心房瓣上环状狭窄或右心室双出口）；2）主动脉弓完全中断；3）室间隔缺损。8例患者中，6例室间隔增厚不成比例处的心肌细胞排列正常；另外2例患者（1例有二尖瓣降落伞样畸形，1例有室间隔缺损）中，大量肥大的心肌细胞束以紊乱的方式交织在排列较为正常的细胞束之间。对8例患者中的6例一级亲属进行了超声心动图检查，发现他们的心室壁厚度和室间隔与游离壁比值均正常。得出的结论是，各种先天性心脏畸形患者可能会出现室间隔增厚不成比例的情况，但这一发现不一定是基因决定的ASH疾病谱的表现。
