Egypt Heart J. 2025 Sep 8;77(1):85. doi: 10.1186/s43044-025-00682-8.
ABSTRACT
BACKGROUND: Congenital heart disease (CHD) is a significant health concern affecting approximately 1% of live births. Among these anomalies, bicuspid aortic valve (BAV) is the most prevalent, while bicuspid pulmonary valve (BPV) remains exceptionally rare. This case report presents a unique instance of a 10-year-old girl diagnosed with the combination of BAV and BPV alongside a ventricular septal defect (VSD) and infundibular stenosis, referred to as the Gasul phenomenon.
CASE PRESENTATION: The patient, initially identified with a heart murmur during infancy, exhibited dyspnea classified as New York Heart Association (NYHA) class II but showed no cyanosis or other acute symptoms. Echocardiographic evaluation revealed a small restrictive VSD with significant left-to-right shunting, severe infundibular stenosis, and the coexistence of both BAV and BPV. Surgical intervention involved closing the VSD and resecting the hypertrophied infundibular muscle, leading to improved hemodynamics and symptomatic relief postoperatively.
CONCLUSIONS: This case emphasizes the rarity and complexity of having both bicuspid valves in a single patient and the clinical challenges associated with the Gasul phenomenon. It highlights the importance of comprehensive echocardiographic assessment and timely surgical intervention in managing such congenital anomalies, ultimately improving long-term outcomes. The report contributes to the limited literature on simultaneous BAV and BPV diagnoses and underscores the need for heightened clinical awareness and diagnostic scrutiny in pediatric patients with congenital heart defects. Further studies are warranted to explore the natural history and management strategies for patients with this unusual combination of cardiac anomalies.
PMID:40921977 | DOI:10.1186/s43044-025-00682-8
