More Than an Edible: Ruptured Sinus of Valsalva Masquerading as Ingestion in an Adolescent

Introduction: Sinus of Valsalva aneurysms are rare cardiac anomalies, typically congenital but occasionally acquired, that may remain asymptomatic until rupture. Rupture can lead to acute hemodynamic instability, heart failure, or death. Diagnosis can be particularly challenging in pediatric patients, especially when presenting with non-specific symptoms or misleading history. We report a case of a ruptured sinus of Valsalva aneurysm in an adolescent, initially misattributed to substance ingestion.


Description: A 15-year-old female presented with altered mental status, seizure-like activity, and desaturations after reportedly ingesting a cannabis edible at school. Narcan was administered with minimal improvement. She was tachycardic and mydriatic on arrival. Her mental status normalized in the emergency department. Initial workup revealed mild hyponatremia, metabolic acidosis, anemia (Hgb 6.5), and QT prolongation. Head CT was unremarkable. The patient was initially believed to be stable for PICU transfer for ingestion monitoring. However, she decompensated prior to transfer, developing persistent hypotension and desaturations despite supportive measures, requiring intubation and urgent PICU admission.
In the PICU, chest radiograph revealed cardiomegaly. Echocardiogram showed aortic insufficiency, mitral regurgitation, pericardial effusion, reduced ejection fraction, and a ruptured subvalvular aneurysm. She underwent surgical repair of a ruptured sinus of Valsalva and posterior aortic root reconstruction. Intraoperative findings were consistent with infective endocarditis. She was discharged but readmitted the following day with fever. Imaging showed a mitral valve mass and rim-enhancing pericardial effusion requiring washout. Postoperatively, she developed right-sided weakness and facial droop. MRI confirmed a left MCA infarct, and she underwent thrombectomy. Progressive systolic dysfunction led to ultimately receiving an orthotopic heart transplant.


Discussion: This case highlights the diagnostic challenge of serious cardiac pathology in adolescents presenting with neurologic or toxicologic symptoms. This case explains the importance of avoiding anchoring bias. Early cardiac imaging in the setting of unexplained hypoxia, hypotension, or anemia may identify rare but life-threatening conditions.