Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium

Shogo Akahoshi; Akinori Hirano; Hiroki Nagamine; Masaru Miura

doi:10.1002/ajmg.a.61448

Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium

Am J Med Genet A. 2020 Mar;182(3):532-535. doi: 10.1002/ajmg.a.61448. Epub 2020 Jan 11.

Authors

Shogo Akahoshi¹, Akinori Hirano², Hiroki Nagamine¹, Masaru Miura¹

Affiliations

¹ Department of Cardiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
² Department of Cardiovascular Surgery, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.

PMID: 31926049
DOI: 10.1002/ajmg.a.61448

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.

Keywords: KRAS mutation; RASopathy; cardiofaciocutaneous syndrome; chylopericardium; intranodal lymphangiography.

Publication types

Case Reports

MeSH terms

Child
Ectodermal Dysplasia / diagnosis
Ectodermal Dysplasia / diagnostic imaging
Ectodermal Dysplasia / genetics*
Ectodermal Dysplasia / pathology
Facies
Failure to Thrive / diagnosis
Failure to Thrive / diagnostic imaging
Failure to Thrive / genetics*
Failure to Thrive / pathology
Female
Heart Defects, Congenital / diagnosis
Heart Defects, Congenital / diagnostic imaging
Heart Defects, Congenital / genetics*
Heart Defects, Congenital / pathology
Humans
Mutation / genetics
Pericardial Effusion / diagnosis
Pericardial Effusion / diagnostic imaging
Pericardial Effusion / genetics*
Pericardial Effusion / pathology
Proto-Oncogene Proteins p21(ras) / genetics*
Ultrasonography

Substances

KRAS protein, human
Proto-Oncogene Proteins p21(ras)

Supplementary concepts

Cardiofaciocutaneous syndrome