第二中隔
二尖瓣
医学
右位心
心脏病学
内科学
心脏间隔缺损
心脏病
弯刀综合征
二尖瓣
卵圆孔未闭
主动脉瓣
肺
偏头痛
作者
M. C. Digilio,Maria Lisa Dentici,Sara Loddo,Luigi Laino,Giulio Calcagni,Silvia Genovese,Rossella Capolino,Irene Bottillo,Giusy Calvieri,Bruno Dallapiccola,Bruno Marino,Antonio Novelli,Paolo Versacci
标识
DOI:10.1016/j.ejmg.2021.104381
摘要
The recurrent 2q13 deletion syndrome is a rare genetic disorder associated with developmental delay, cardiac and urogenital malformations, and minor facial anomalies. Congenital heart defects (CHDs) are the most frequent malformations associated with del2q13. Experimental studies in zebrafish suggest that two genes mapping within the 2q13 critical region (FBLN7 and TMEM87B) could confer susceptibility to congenital heart defects in affected individuals. We reviewed the cardiac characteristics in four patients with 2q13 deletion admitted to our hospitals, and in published patients. Two of our patients had congenital heart defects, consisting in partial anomalous pulmonary venous connection, ostium secundum atrial septal defect ostium secundum, and small muscular ventricular septal defect in one of them, and aortic valve insufficiency with partial fusion of two commissures (incomplete bicuspid aortic valve) and mitral valve insufficiency due to trivial mitral valve prolapse in the other. The anatomic types of CHD in del2q13 syndrome are highly variable and distributed widely, including laterality defects, complex atrioventricular septal defect, septal anomalies, and cardiomyopathies. Cardiac evaluation should be part of the clinical workup at diagnosis of 2q13 deletion.
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