Abstract：
BACKGROUND: A peculiar subgroup of patients with partial or complete atrioventricular canal defect exhibits a spectrum of left-sided obstructions including right ventricular dominance and aortic coarctation. The association of atrioventricular canal defect with left-sided obstructions is found in several genetic syndromes; however, the molecular basis of nonsyndromic atrioventricular canal defect with aortic coarctation is still poorly understood. Although some candidate genes for nonsyndromic atrioventricular canal defect are known, a complex oligogenic inheritance determined in some cases by the co-occurrence of multiple variants has also been hypothesized.
METHODS: We describe a nonsyndromic infant with mesocardia with viscero-atrial situs solitus, partial atrioventricular canal defect, mild right ventricular dominance, and coarctation of the aorta. Next generation sequencing genetic testing revealed variants in two genes, GDF1 and NOTCH1, previously reported in association with atrioventricular canal defect and left-sided obstructive lesions, respectively.
CONCLUSIONS: The present report could support the hypothesis that the co-occurrence of cumulative variants may be considered as genetic predisposing risk factor for specific congenital heart defects.
METHODS: We describe a nonsyndromic infant with mesocardia with viscero-atrial situs solitus, partial atrioventricular canal defect, mild right ventricular dominance, and coarctation of the aorta. Next generation sequencing genetic testing revealed variants in two genes, GDF1 and NOTCH1, previously reported in association with atrioventricular canal defect and left-sided obstructive lesions, respectively.
CONCLUSIONS: The present report could support the hypothesis that the co-occurrence of cumulative variants may be considered as genetic predisposing risk factor for specific congenital heart defects.
摘要：
背景：部分或完全房室管缺损患者的特殊亚组表现出一系列左侧阻塞，包括右心室优势和主动脉缩窄。在几种遗传综合征中发现了房室管缺损与左侧阻塞的关联；然而，非综合征性房室管缺损合并主动脉缩窄的分子基础仍然知之甚少。尽管一些非综合征性房室管缺损的候选基因是已知的，还假设了在某些情况下由多个变体的共同出现确定的复杂的寡基因遗传。
方法：我们描述了一个具有内脏心房肌位的非综合征性心膜的婴儿，部分房室管缺损,轻度右心室优势,和主动脉缩窄.下一代测序基因检测揭示了两个基因的变异，GDF1和NOTCH1，先前报道与房室管缺损和左侧阻塞性病变有关，分别。
结论：本报告可以支持这样的假设，即累积变异的同时发生可能被认为是特定先天性心脏病的遗传诱发风险因素。
方法：我们描述了一个具有内脏心房肌位的非综合征性心膜的婴儿，部分房室管缺损,轻度右心室优势,和主动脉缩窄.下一代测序基因检测揭示了两个基因的变异，GDF1和NOTCH1，先前报道与房室管缺损和左侧阻塞性病变有关，分别。
结论：本报告可以支持这样的假设，即累积变异的同时发生可能被认为是特定先天性心脏病的遗传诱发风险因素。
