Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium
S Akahoshi, A Hirano, H Nagamine… - American Journal of …, 2020 - Wiley Online Library
S Akahoshi, A Hirano, H Nagamine, M Miura
American Journal of Medical Genetics Part A, 2020•Wiley Online LibraryA 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.
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.
Abstract
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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