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  • Open Access


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

    Sanam Safi1,2, Takato Yamasaki1,3, David J. Glidden4, Stephen P. Sanders1,5, Chrystalle Katte Carreon1,6,*

    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 >

  • Open Access


    Severe Right Ventricular Dysplasia with Absent Pulmonary Valve Syndrome and Tricuspid Atresia: A Literature Review

    Kinjal Parikh1,2,*, Juan Carlos Muniz1,2, Elizabeth Welch1,2, Abdul Aldousany1,3, Nao Sasaki1,2

    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… More >

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