INTERESTING ECHO OF THE MONTH
A 14 years boy presented with SOB and easy fatigability NYHA class III. Clinical examination BP: 90/60 mm Hg. No tachypnea. No cyanosis. No murmur. RVS3 +.
What is the Diagnosis??
The apical 4 chamber shows significant RA and RV are dilatation with paradoxical septal motion. The SAX view shows a dilated RV with a free wall which is thinned out resulting in impaired RV contractility. The 4 chamber view Doppler image shows there is incomplete co-optation of tricuspid valve with moderate normotensive tricuspid regurgitation. To better delineate the underlying myocardium patient underwent further imaging
CT Cardiac (June 2023): Near complete absence of RV free wall myocardium consistent with Uhl’s anomaly.
Cardiac MRI (May 2023): MRI findings are consistent with Uhl’s anomaly of the heart (RV). No fatty infiltration Uhl’s anomaly.
Uhl's anomaly is a rare congenital cardiac malformation that results in partial or complete absence of the right ventricular myocardium. It most commonly presents in prenatal or newborn infants; however, it may also be found in some adults as advanced right-sided heart failure. Differential diagnoses include arrhythmogenic right ventricular dysplasia and Ebstein's anomaly. In Uhl's anomaly, the RV free wall is extremely thin and consists only of epicardium and endocardium, with no evidence of myocardium as in a normal right ventricle or fat infiltration, inflammation, and necrosis present in other pathologies. There is marked RV dilatation and failure, with preservation of interventricular septum and normal tricuspid valve insertion. The main hemodynamic consequence of Uhl's anomaly is inadequate or absent RV contraction, which acts as a passive systemic conduit through which the blood of the right atrium is channeled into the pulmonary circulation. The left ventricle is morphologically normal.