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Article

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

European journal of medical genetics - 1 Jun 2017

Ramond Francis, Duband Sébastien, Croisille Pierre, Cavé Hélène, Teyssier Georges, Adouard Véronique, Touraine Renaud

Abstract excerpt

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...

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Identifiers

PMID: 28347726
DOI: 10.1016/j.ejmg.2017.03.009

Genes

RIT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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