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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

1 Nicklaus Children’s Hospital, Department of Cardiology 2nd Floor, Miami, FL 33155, USA
2 Herbert Wertheim School of Medicine, Florida International University, Miami, FL 33130, USA
3 Kidz Medical Services, Miami, FL 33176, USA

* Corresponding Author: Kinjal Parikh. Email:

Congenital Heart Disease 2020, 15(5), 339-346.


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 had mildly depressed systolic function. Computed tomography angiography showed marked dilation of the main and branch pulmonary arteries, with compression of the airway. This, along with profound anasarca, prohibited weaning of ventilatory support. Ventricular tachycardia contributed to low cardiac output. Genetic testing revealed a heterozygous variant in the desmoplakin (DSP) gene, which is associated with familial arrhythmogenic RV dysplasia and dilated cardiomyopathy. The parents opted to withdraw care. Severe RV dysplasia associated with APVS and TA has previously been reported, however the degree of RV dilation with primitive myocardium in this case is profound. Further, presence of both fetal and postnatal ventricular tachycardia contributing to low cardiac is a novel presentation. This demonstrates that the overall poor prognosis was multifactorial.


Cite This Article

Parikh, K., Muniz, J. C., Welch, E., Aldousany, A., Sasaki, N. (2020). Severe Right Ventricular Dysplasia with Absent Pulmonary Valve Syndrome and Tricuspid Atresia: A Literature Review. Congenital Heart Disease, 15(5), 339–346.

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