Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium

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 r...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2020-03, Vol.182 (3), p.532-535
Main Authors: Akahoshi, Shogo, Hirano, Akinori, Nagamine, Hiroki, Miura, Masaru
Format: Article
Language:English
Subjects:
cardiofaciocutaneous syndrome
Child
chylopericardium
Ectodermal Dysplasia - diagnosis
Ectodermal Dysplasia - diagnostic imaging
Ectodermal Dysplasia - genetics
Ectodermal Dysplasia - pathology
Effusion
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
intranodal lymphangiography
KRAS mutation
Lymphangiography
Mutation
Mutation - genetics
Pericardial Effusion - diagnosis
Pericardial Effusion - diagnostic imaging
Pericardial Effusion - genetics
Pericardial Effusion - pathology
Point mutation
Proto-Oncogene Proteins p21(ras) - genetics
RASopathy
Ultrasonography
Ultrasound
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Description
Summary: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.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.61448