Clinical features and echocardiographic findings in children with ebstein’s anomaly: A descriptive case-series of 48 cases.

Objective: To determine the clinical features and echocardiographic findings among children presenting with Ebstein’s anomaly (EA). Study Design: Descriptive Case-series. Setting: Department of Pediatric Cardiology, National Institute of Cardiovascular Diseases (NICVD), Karachi Pakistan. Period: July 2021 to June 2022. Material & Methods: Children of both genders aged above 1 month up to 18 years, having echocardiographic confirmed EA were analyzed. Demographic data along with clinical features, presenting symptoms and echocardiographic findings were noted in all case. Results: In a total of 48 cases of EA, 38 (79.2%) were female. The mean age was 8.4±4.21 years. Cyanosis, exertional dyspnea, easy fatigue ability and exercise intolerance were the most frequent symptoms reported in 31 (64.6%), 27 (56.3%), 26 (54.2%) and 24 (50.0%) patients respectively. Arrhythmias and heart failure were the most frequent clinical features noted in 29 (60.4%) patients each. Small atrial septal defect (ASD) was noted in 27 (56.3%) patients while ventricular septal defect in 19 (39.6%) cases. There were 11 (22.9%) patients who presented timely with diagnosis of EA while 37 (77.1%) patients had late diagnosis.  Conclusion: Majority of the patients with Ebstein’s anomaly were female. Cyanosis, exertional dyspnea, easy fatigue ability and exercise intolerance were the most frequent symptoms whereas arrhythmias and heart failure were the most frequent clinical features observed. ASD was the most commonly noted associated CHDs observed in almost half of the Ebstein’s anomaly case. Almost 3/4th of the patients had late diagnosis.