Abstract
A maternally inherited 828 kb microdeletion of 2q37.3 manifested in a 3-week-old premature boy as left juxtaposition of the atrial appendages associated with tricuspid atresia, double outlet infundibulum, subvalvar pulmonary atresia, large secundum atrial septal defect, and right aortic arch with mirror-image branching, consistent with developmental arrest early in heart looping. To the best of our knowledge, no previous 2q37 deletion syndrome has been reported with such a severe cardiac dysmorphology. Hence, this case adds to the cardiac phenotypes identified in 2q37 deletion syndrome.
Highlights
Despite being a rare finding, a clear association has been found between the 2q37 deletion syndrome and cardiac malformations
Cardiac malformation occurs in up to 20% of 2q37 deletion syndrome, known as brachydactyly-mental retardation syndrome or Albright hereditary osteodystrophy-like syndrome
The congenital heart defects identified in this genetic condition are mostly in the form of atrial and ventricular septal defects and aortic coarctation with only one case reported to exhibit a complex anatomy
Summary
Despite being a rare finding, a clear association has been found between the 2q37 deletion syndrome and cardiac malformations. Cardiac malformation occurs in up to 20% of 2q37 deletion syndrome, known as brachydactyly-mental retardation syndrome or Albright hereditary osteodystrophy-like syndrome. We describe a complex cardiac phenotype in a fetus with 2q37 deletion syndrome that suggests interruption in early ventricular looping. This case adds to the known cardiac phenotypes identified in. Awareness of the spectrum of cardiac phenotypes that may be encountered in 2q37 deletion syndrome may inform the diagnostic approach and management of patients with this rare genetic condition
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