January 10, 2026Journal of Biomedicine and Big Data0 citationsOpen Access

Late Diagnosis of Ebstein’s Anomaly Following Ventricular Septal Defect Repair in Infancy

Key Result

A 23-year-old woman with a history of repaired VSD was diagnosed with significant Ebstein's anomaly and moderate regurgitation after presenting with symptoms in adulthood.

Key Points

To highlight the potential for late diagnosis of Ebstein’s anomaly following ventricular septal defect repair.
Described a case of a 23-year-old woman with palpitations diagnosed via echocardiography.
Analyzed clinical history and echocardiographic findings of Ebstein's anomaly and related congenital heart defects.
Discussed management strategies for associated arrhythmias.
The patient showed significant displacement of the tricuspid valve with moderate regurgitation.
Initial EA was likely mild, only becoming problematic years after the VSD repair.
The case emphasizes the need for lifelong cardiac follow-up after congenital heart surgery.

Structured PICO

Population

n=1 23-year-old woman with a history of perimembranous ventricular septal defect (VSD) successfully repaired at one year of age, presenting with a 6-month history of intermittent palpitations.

Intervention

Metoprolol succinate 47.5 mg daily for heart rate control and symptom relief, alongside a multidisciplinary stepwise management plan including potential future electrophysiology study and surgical evaluation.

This case highlights the rare phenomenon of late-presenting, hemodynamically significant Ebstein's anomaly in adulthood following successful VSD repair in infancy, underscoring the necessity of lifelong specialized follow-up for adult congenital heart disease.

Main Result

Absolute Event Rate: 0% vs 0%

Abstract

Ebstein’s anomaly (EA) is a rare congenital heart defect characterized by apical displacement of the tricuspid valve (TV) leaflets into the right ventricle, leading to atrialization and dysfunction. While typically diagnosed in infancy or childhood, a subset of patients may present with symptoms only in adulthood. We report a case of a 23-year-old woman who presented with palpitations and was diagnosed via echocardiography with significant EA (3 cm displacement) with moderate regurgitation and frequent atrial and ventricular ectopy on electrocardiogram. Uniquely, she had a history of perimembranous ventricular septal defect (VSD) successfully repaired via thoracotomy at one year of age, with no mention of TV abnormality in the perioperative records. This timeline suggests the initial EA may have been very mild or "occult," progressing to hemodynamic significance over two decades following VSD repair. This case underscores the necessity of lifelong, specialized cardiac follow-up for adults with repaired congenital heart disease, even when the initial repair was considered "complete." Furthermore, we discuss the potential embryological link between VSD and EA, the diagnostic challenges of late-presenting EA, and the management strategies for associated arrhythmias. This report aims to increase awareness of EA diagnosed de novo in adulthood, particularly in patients with a history of prior cardiac surgery.

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