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, 2020Wiley Online Library
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.
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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