Open Access
REVIEW
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. https://doi.org/10.32604/CHD.2020.012910
Received 17 July 2020; Accepted 20 August 2020; Issue published 23 September 2020
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 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.
Keywords
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. https://doi.org/10.32604/CHD.2020.012910