2q37.3 Deletion with Complex Heart Defects Suggesting Interruption of Early Ventricular Looping

نویسندگان

چکیده

A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition the atrial appendages associated with tricuspid atresia, double outlet infundibulum, subvalvar pulmonary large secundum septal defect, and right aortic arch mirror-image branching, consistent developmental arrest early heart looping. To best our knowledge, no previous 2q37 deletion syndrome has been reported such severe cardiac dysmorphology. Hence, this case adds to phenotypes identified syndrome.

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ژورنال

عنوان ژورنال: Congenital Heart Disease

سال: 2022

ISSN: ['1747-0803', '1747-079X']

DOI: https://doi.org/10.32604/chd.2022.019743