Clinical spectrum of ebstein’s anomaly: From fetal life to adolescence

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Abstract
Objective: Ebstein’s anomaly is a rare congenital heart defect featuring a varied spectrum of clinical presentation. Anatomical variability in the malformation, together with a frequent association with other cardiac defects and arrhythmias, can complicate diagnosis and long-term management. Methods: Data from a total of 26 patients with Ebstein’s anomaly followed up at two university clinics between 2009 and 2025 were analyzed retrospectively. Cases diagnosed from the prenatal period through adolescent period were included. Results: The cohort consisted of 26 patients; 69.2% (18/26) were males with a median diagnostic age of 8 days. Diagnoses were established prenatally 15.4% (4/26), neonatally 50.0% (13/26), or during later childhood and adolescence 34.6% (9/26). Diagnosis was made during the index NICU admission in 34.6% (9/26) of patients and based on referral for murmur 26.9% (7/26) or cyanosis 7.7% (2/26). Common associated anomalies included atrial-level shunts 61.5% (16/26), mitral regurgitation 23.1% (6/26), and ventricular septal defects 15.4% (4/26). Arrhythmias were documented in 23.1% (6/21) of the cohort; 42.3% (11/26) underwent catheter-based procedures, and 30.8% (8/26) required surgery (median age at first surgery, 8.4 months), with 15.4%(4/26) undergoing reoperation. Over a median 5-year follow-up, mortality was 15.4% (4/26), with no perioperative deaths. Among prenatally diagnosed cases (n=4), three deaths occurred (3/4, 75%). Conclusions: The clinical spectrum of Ebstein’s anomaly is exceptionally broad. Our findings show frequent left heart involvement and a substantial need for catheter-based and surgical interventions, supporting the importance of individualized assessment and follow-up across the disease course.

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