Selen KARAGOZLU, Mehmet Gokhan RAMOGLU, Kerem Omer OZCAN, Tayfun UÇAR
Marmara Medical Journal - 2026;39(3):1-6
Objective: Ventricular septal defect (VSD) is the most common congenital heart defect and frequently accompanies genetic syndromes. This study aimed to evaluate the demographic characteristics, VSD morphology, associated syndromes, and clinical outcomes of syndromic children with isolated VSD. Patients and Methods: This retrospective single-center study included 88 syndromic children with isolated VSD followed at a tertiary pediatric cardiology center between 1991 and 2024 (8.8% of all isolated VSD cases). Clinical, echocardiographic and genetic data and VSD outcomes were reviewed. Patients with suspected genetic syndromes underwent stepwise clinical and molecular genetic evaluation. Results: Down syndrome was the most common diagnosis (48.9%), followed by unclassified syndromic conditions (18.2%) and rare genetic syndromes (20.5%). Muscular VSD was the predominant subtype, and small defects were the most common. Pulmonary hypertension (PHT) was present in 20.5%. Surgical or transcatheter intervention was required in 20.5%, while spontaneous VSD closure occurred in 27.3% during follow-up. Conclusion: Syndromic children with isolated VSD represent a heterogeneous population with diverse genetic diagnoses and variable outcomes; Down syndrome was the predominant syndrome. VSD anatomy and defect size were among the main determinants of spontaneous closure, whereas PHT was an important and often multifactorial concern. These findings may facilitate clinical surveillance and management.
