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

This is a newborn male prenatally diagnosed with severe right ventricular (RV) hypertrophy and depressed function, aneurysmal dilation of the mainpulmonary artery and tachyarrhythmia. Postnatally, he required immediate intubation and inotropic support. Echocardiogram revealed a large dysplastic RV, absentpulmonary valve syndrome (APVS), markedly dilated pulmonary arteries and tricuspid atresia (TA). The trabecular portion of the RV was excessively trabeculatedand severely dilated. Inflow and infundibular walls were thin, with multiple infundibular aneurysms. There was APVS with free regurgitation and massively dilatedpulmonary arteries. The RV bulged into the LV, though there was no outflow tractobstruction. The LV had mildly depressed systolic function. Computed tomography angiography showed marked dilation of the main and branch pulmonaryarteries, with compression of the airway. This, along with profound anasarca, prohibited weaning of ventilatory support. Ventricular tachycardia contributed to lowcardiac output. Genetic testing revealed a heterozygous variant in the desmoplakin (DSP) gene, which is associated with familial arrhythmogenic RV dysplasiaand dilated cardiomyopathy. The parents opted to withdraw care. Severe RV dysplasia associated with APVS and TA has previously been reported, however thedegree of RV dilation with primitive myocardium in this case is profound.Further, presence of both fetal and postnatal ventricular tachycardia contributingto low cardiac is a novel presentation. This demonstrates that the overall poorprognosis was multifactorial.