Prenatal Diagnosis of Uhl Anomaly with Autopsy Correlation

Abstract

Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium. It could be partial or there could be a total absence of the myocardium of the right ventricle (RV) with normal tricuspid valve, intact ventricular septum, and left ventricular myocardium. 1-4 To our knowledge , only few cases with a prenatal diagnosis have been reported, even more seldom, are, reports with fetal autopsy correlations. Uhl anomaly, arrhythmogenic right ventricular dysplasia (ARVD)/ cardiomyopathy, and right ventricular outflow tract tachycardia, are disorders that exhibit pathological changes involving the right ventricular myocardium. 5 Except Uhl anomaly, the other two disorders are usually seen in late adolescence. Some have reported survival of cases of Uhl at 55 years of age and above. The severity of symptoms may vary and many patients may survive with their disease, which mainly depends on the presence of adequate number of intact myocardial cells. 6 Detection of Uhl anomaly in early gestation allows prediction of the often poor chance of survival of the fetus in utero in view of the possible development of severe cardiac dilatation, heart failure, pericardial effusion, and fetal hydrops. Here, we report an antenatal case of Uhl anomaly, a rare finding in fetal echocardiography in a 33-year-old primigra-vida who presented at 20 weeks' of gestation. Cardiac ultra-sound and further follow-up revealed severe RV dysfunction, cardiomegaly, and pericardial effusion as complications to Uhl anomaly. We were able to confirm the presence of this rare anomaly at the fetal autopsy, with histopathological examination. Case History A 33-year-old primigravida, who had conceived after an intracytoplasmic sperm insemination, was referred to the cardiac center at Parumala, at 20 weeks' gestational age (GA) for cardiac ultrasound evaluation. A routine ultrasound examination had shown a cardiac chamber enlargement. No Keywords ► dilated right ventricle ► fetal autopsy ► right ventricular dysplasia ► Uhl anomaly Abstract Uhl anomaly is a rare form of congenital hypoplasia of the right ventricular myocardium. Here, we report, a rare finding in fetal cardiac ultrasound in a 33-year-old woman who presented at 20 weeks' of gestation. A diagnosis of Uhl anomaly was made. An autopsy was performed at 23weeks gestation after obtaining permission for medicolegal termination of pregnancy. Histopathological examination confirmed the diagnosis. Diagnosing Uhl anomaly in fetal life is essential since mortality and survival mainly depend on the severity of right ventricle dysfunction related to, the either partial or complete absence of the myocardium. Hence, surviving cases need to be followed up carefully and counselled accordingly.