Cardiofaciocutaneous syndrome with  KRAS  gene mutation presenting as chylopericardium | Zendy

Akahoshi Shogo | Zendy; Hirano Akinori | Zendy; Nagamine Hiroki | Zendy; Miura Masaru | Zendy

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Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium

Author(s) -

Akahoshi Shogo,

Hirano Akinori,

Nagamine Hiroki,

Miura Masaru

Publication year - 2020

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.61448

Subject(s) - pericardial effusion , kras , medicine , mutation , gene mutation , effusion , gene , pathophysiology , radiology , pathology , cardiology , surgery , genetics , biology

A 12‐year‐old female patient with cardiofaciocutaneous syndrome in the presence of a KRAS gene mutation had episodes of pericardial effusion on ultrasound, later confirmed to be chylopericardium, which resolved after a lymphangiography. We discussed herein the pathophysiological background of this rare case and the efficacy of lymphangiography in the treatment of chylopericardium.

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