Genetic variant in the BRAF gene compatible with Noonan spectrum disorders in an adult Fontan patient with refractory protein losing enteropathy: a follow-up report.

Marieke Nederend,J Lauran Stoger,Anastasia D Egorova,Daniela Q C M Barge-Schaapveld,Monique R M Jongbloed

European heart journal. Case reports（2023）

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摘要

Genetic screening can provide new insights in the complex and varied phenotype of the (adult) Fontan patient and in the myriad of complications encountered. Adult CHD cardiologists should be aware of genetic syndromes underlying a CHD, concomitant extracardiac anomalies, and a complex clinical course with a broad spectrum of late sequelae.

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关键词

Case report, Congenital heart disease, Fontan circulation, Univentricular heart, Long term complications, Genetic disorder, Noonan spectrum

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