Clinical Spectrum of Unrepaired Ventricular Septal Defects in Adolescents and Adults at a Tertiary Cardiac Center

Abstract

Objectives: To evaluate the clinical spectrum of ventricular septal defect (VSD) in adolescents and adults. Methodology: A descriptive, observational study was conducted at the Pediatric Cardiology Department of Faisalabad Institute of Cardiology (FIC), Pakistan, from February to July 2023. Patients aged ≥10 years with unoperated VSD were enrolled, and the diagnosis was confirmed via transthoracic echocardiography. The clinical presentation, type of VSD, associated cardiac conditions, and complications were analyzed. Results: A total of 128 patients were included, with 60.9% aged 10–18 years and 39.1% aged over 18 years. Males accounted for 55.5% of the cohort. Most patients (89.1%) presented at the outpatient department. Perimembranous VSD was the most common type (58.6%), followed by sub-arterial (23.4%), inlet (7.8%), and muscular (7.8%) defects. Pulmonary hypertension (21.9%), aortic valve prolapse (12.5%), and mitral regurgitation (10.2%) were the most frequent associations. Eisenmenger syndrome (31.3%) was the most common complication. Older patients were significantly more likely to have pulmonary arterial hypertension (PAH) (p = 0.0006) and Eisenmenger syndrome (p = 0.0002). A significant association was found between VSD type and aortic valve prolapse (p < 0.0001). A p-value < 0.05 was considered statistically significant. Conclusion: Perimembranous VSD is the most prevalent defect in adolescents and adults. Many patients experience worsening functional status, with Eisenmenger syndrome emerging as a major complication. Early screening and timely intervention are crucial in preventing disease progression. Serial echocardiography should be incorporated into follow-up care for all unrepaired VSD patients. Establishing specialized adult congenital heart disease (ACHD) clinics in tertiary hospitals is essential for long-term management and improving patient outcomes.