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Article

Male infant with Noonan syndrome with RAF-1 gene mutation who survived hypertrophic cardiomyopathy-induced fatal heart failure and uncontrollable arrhythmias.

BMJ case reports - 28 Sept 2022

Hagino Mao, Ota Chiharu, Onoki Takehiko, Iwasawa Shinya

Abstract excerpt

Noonan syndrome (NS) is a congenital disease with characteristic facial features as well as heart disease, short stature and thoracic abnormalities. More than eighty per cent of patients with NS show several cardiac disorders including pulmonary valvular stenosis, hypertrophic cardiomyopathy (HCM) and/or atrial septal defects. HCM is a serious cardiac comorbidity in patients with NS, especially in those who are...

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Identifiers

PMID: 36171012
DOI: 10.1136/bcr-2022-250342
PMCID: PMC9528629

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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