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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.