Document Detail

Pulmonary hypertension in a child with mitochondrial A3243G point mutation.
MedLine Citation:
PMID:  22455997     Owner:  NLM     Status:  MEDLINE    
Mitochondrial diseases are a group of disorders caused by pathologic dysfunction of the mitochondrial respiratory chain that present with a wide range of clinical expression. Cardiorespiratory complications have previously been described in association with mitochondrial disease; however, pulmonary hypertension has rarely been reported. Pulmonary hypertension is characterized by elevated pulmonary arterial pressure and secondary right ventricular failure. It is a life-threatening condition with a poor prognosis if untreated. We report a case of 3-year-4-month-old boy who had mitochondrial A3243G point mutation with pulmonary hypertension. The unusual features of our case strengthen the concepts of pulmonary hypertension should be considered as another potential manifestation of mitochondrial disease.
Po-Cheng Hung; Huei-Shyong Wang; Hung-Tao Chung; Mao-Sheng Hwang; Long-Sun Ro
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2012-03-26
Journal Detail:
Title:  Brain & development     Volume:  34     ISSN:  1872-7131     ISO Abbreviation:  Brain Dev.     Publication Date:  2012 Nov 
Date Detail:
Created Date:  2012-10-19     Completed Date:  2013-04-24     Revised Date:  2013-05-15    
Medline Journal Info:
Nlm Unique ID:  7909235     Medline TA:  Brain Dev     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  866-8     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.
Division of Pediatric Neurology, Chang Gung Children's Hospital, Chang Gung University, College of Medicine, Kwei-Shan, Taoyuan, Taiwan.
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MeSH Terms
Child, Preschool
Genetic Predisposition to Disease / genetics*
Hypertension, Pulmonary / diagnosis,  etiology,  genetics*
Mitochondrial Diseases / genetics*
Muscle, Skeletal / pathology
Point Mutation / genetics*
Comment In:
Brain Dev. 2013 May;35(5):467   [PMID:  22917969 ]
Brain Dev. 2013 May;35(5):466   [PMID:  22921863 ]

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