Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
5589059 | European Journal of Medical Genetics | 2017 | 21 Pages |
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.
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Authors
Francis Ramond, Sébastien Duband, Pierre Croisille, Hélène Cavé, Georges Teyssier, Véronique Adouard, Renaud Touraine,