Noonan syndrome associated with anomalous left coronary artery from the pulmonary artery in a patient with the rare RAF1 mutation: A case report and review of literature

Abstract

We present the case of a 7-week-old male infant diagnosed with anomalous left coronary artery from the pulmonary artery (ALCAPA) who underwent repair by left coronary artery reimplantation, followed by an eventful postoperative period including need for venous arterial extracorporeal membrane oxygenation and mitral valve replacement due to mitral calcification and severe insufficiency. He also required heart transplant due to severe rapidly progressive biventricular hypertrophy. The pathology examination of the explanted heart showed massive cardiomegaly. Subsequently, the infant's cardiomyopathy panel was positive for RAF1 mutation, consistent with diagnosis of a rare form of Noonan syndrome. To our knowledge, this autosomal dominant condition in association with ALCAPA has not been previously reported in the literature.

Keywords

• Anomalous left coronary artery from the pulmonary artery
• Noonan syndrome
• hypertrophic cardiomyopathy