Sanam Safi^1,2, Takato Yamasaki^1,3, David J. Glidden⁴, Stephen P. Sanders^1,5, Chrystalle Katte Carreon^1,6,*

Congenital Heart Disease, Vol.17, No.2, pp. 141-146, 2022, DOI:10.32604/chd.2022.019743

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. More >

Kinjal Parikh^1,2,*, Juan Carlos Muniz^1,2, Elizabeth Welch^1,2, Abdul Aldousany^1,3, Nao Sasaki^1,2

Congenital Heart Disease, Vol.15, No.5, pp. 339-346, 2020, DOI:10.32604/CHD.2020.012910

Abstract This is a newborn male prenatally diagnosed with severe right ventricular (RV) hypertrophy and depressed function, aneurysmal dilation of the main pulmonary artery and tachyarrhythmia. Postnatally, he required immediate intubation and inotropic support. Echocardiogram revealed a large dysplastic RV, absent pulmonary valve syndrome (APVS), markedly dilated pulmonary arteries and tricuspid atresia (TA). The trabecular portion of the RV was excessively trabeculated and severely dilated. Inflow and infundibular walls were thin, with multiple infundibular aneurysms. There was APVS with free regurgitation and massively dilated pulmonary arteries. The RV bulged into the LV, though there was no outflow tract obstruction. The LV… More >