Papa M, Marino B, Vairo U, Nava S, Parretti Di Iulio D, Donfrancesco C, Cicini M P, Grazioli S, Mazzera E, Marcelletti C
Dipartimento Medico-Chirurgico di Cardiologia Pediatrica, Ospedale Bambino Gesù, Roma.
G Ital Cardiol. 1990 Sep;20(9):801-4.
The muscular ventricular septal defect associated with the atrioventricular canal is a malformation which has not yet been extensively studied. Between June 1982 and December 1989, 151 patients with atrioventricular canal underwent echocardiography and angiocardiography in our Department. Of these 95 (62.9%) had a complete form and 56 (37.1%) a partial. Among the 151 patients, 81 (53.6%) presented Down syndrome. We found 5 muscular ventricular septal defects in 4 patients; in 3 cases there was a single defect and in one case two defects. These defects were midmuscular in all patients and one patient also presented an apical defect. All 4 patients with muscular ventricular septal defect presented a complete atrioventricular canal and aortic coarctation; 3 out of 4 patients had a hypoplastic left ventricle with absence of Down syndrome. The muscular ventricular septal defect is a malformation which is rarely associated with atrioventricular canal (4/151 = 2.6%). In our experience, it was always associated with a complete form with aortic coarctation and was very rare in Down syndrome patients (1/81 = 1.2%). These findings may represent a peculiar association of anomalies which may be caused by fetal hemodynamic mechanisms.
与房室通道相关的肌部室间隔缺损是一种尚未得到广泛研究的畸形。1982年6月至1989年12月期间，我科对151例房室通道患者进行了超声心动图和心血管造影检查。其中95例（62.9%）为完全型，56例（37.1%）为部分型。在这151例患者中，81例（53.6%）患有唐氏综合征。我们在4例患者中发现了5处肌部室间隔缺损；3例为单一缺损，1例为两处缺损。所有患者的这些缺损均位于肌部中间，1例患者还存在心尖部缺损。所有4例肌部室间隔缺损患者均表现为完全性房室通道和主动脉缩窄；4例患者中有3例左心室发育不全且无唐氏综合征。肌部室间隔缺损是一种很少与房室通道相关的畸形（4/151 = 2.6%）。根据我们的经验，它总是与伴有主动脉缩窄的完全型相关，在唐氏综合征患者中非常罕见（1/81 = 1.2%）。这些发现可能代表了一种可能由胎儿血流动力学机制引起的特殊异常关联。
