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Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium.

Shogo AkahoshiAkinori HiranoHiroki NagamineMasaru Miura
Published in: American journal of medical genetics. Part A (2020)
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.
Keyphrases
  • rare case
  • case report
  • wild type