Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death

• Published in: European journal of medical genetics Vol. 60; no. 6; pp. 299 - 302
• Main Authors: Ramond, Francis, Duband, Sébastien, Croisille, Pierre, Cavé, Hélène, Teyssier, Georges, Adouard, Véronique, Touraine, Renaud
• Format: Journal Article
• Language: English
• Published: Netherlands Elsevier Masson SAS 01-06-2017; Elsevier
• Subjects: Bioengineering; Cardiology and cardiovascular system; Child; Colon stenosis; Coronary Vessel Anomalies - genetics; Coronary Vessel Anomalies - pathology; Death, Sudden, Cardiac; Human health and pathology; Humans; Left main coronary artery atresia; Life Sciences; Male; Medical Education; Mutation; Noonan syndrome; Noonan Syndrome - genetics; Noonan Syndrome - pathology; Phenotype; ras Proteins - genetics; RIT1; Sudden death; Colon stenosis; RIT1; Noonan syndrome; Sudden death; Left main coronary artery atresia
• ISSN: 1769-7212; 1878-0849
• DOI: 10.1016/j.ejmg.2017.03.009

Abstract Noonan syndrome is a well-known genetic condition associating congenital heart defects, short stature, and distinctive facial features. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most frequent cardiac abnormalities, the latter being associated with a higher mortality. Here we report for the first time, a case of congenital left main coronary artery atresia in a Noonan syndrome associated with RIT1 variant, leading to unrescued sudden death. This case-report supports the already-suspected severity of the RIT1 -related Noonan syndrome compared to average Noonan syndrome, and should encourage clinicians to be very cautious with these patients.