CHARGE syndrome is characterized by a pattern of congenital anomalies (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth, Genital abnormalities, and Ear abnormalities). De novo mutations of chromodomain helicase DNA binding protein 7 (CHD7) are the primary cause of CHARGE syndrome. The clinical phenotype is highly variable including a wide spectrum of congenital heart defects. Here, we review the range of congenital heart defects and the molecular effects of CHD7 on cardiovascular development that lead to an over-representation of atrioventricular septal, conotruncal, and aortic arch defects in CHARGE syndrome. Further, we review the overlap of cardiovascular and noncardiovascular comorbidities present in CHARGE and their impact on the peri-operative morbidity and mortality in individuals with CHARGE syndrome.

中文翻译：

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CHARGE 中的先天性心脏缺陷：CHD7 的分子作用以及对心脏表型和临床结果的影响。

CHARGE 综合征的特征是先天性异常（眼睛缺损、心脏缺陷、后孔闭锁、生长迟缓、生殖器异常和耳朵异常）。染色体解旋酶 DNA 结合蛋白 7 (CHD7) 的从头突变是 CHARGE 综合征的主要原因。临床表型高度可变，包括广泛的先天性心脏缺陷。在这里，我们回顾了先天性心脏缺陷的范围和 CHD7 对心血管发育的分子影响，这些影响导致 CHARGE 综合征中房室间隔、圆锥干和主动脉弓缺损的过度表现。此外，我们回顾了 CHARGE 中心血管和非心血管合并症的重叠及其对 CHARGE 综合征患者围手术期发病率和死亡率的影响。