Document Detail

Biventricular non-compaction hypertrophic cardiomyopathy in association with congenital complete heart block and type I mitochondrial complex deficiency.
MedLine Citation:
PMID:  25023008     Owner:  NLM     Status:  Publisher    
We report a baby girl with an antenatal diagnosis of biventricular non-compaction and complete heart block detected at 22 weeks' gestation. Postnatal echocardiography confirmed severe biventricular non-compaction hypertrophic cardiomyopathy, multiple muscular ventricular septal defects, and mild-moderate pulmonary valve stenosis. Skeletal muscle biopsy confirmed complex 1 mitochondrial respiratory chain deficiency. An epicardial VVI pacemaker was implanted on day 3 of life and revised at 7 years of age. She remains stable at 8 years of age following pacing and medical treatment with carvedilol, aspirin, co-enzyme Q10, and carnitine. This represents the first report of biventricular non-compaction hypertrophic phenotype in association with congenital complete heart block and complex 1 mitochondrial respiratory chain deficiency in a child.
Ranjana Dhar; William Reardon; Colin J McMahon
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-7-15
Journal Detail:
Title:  Cardiology in the young     Volume:  -     ISSN:  1467-1107     ISO Abbreviation:  Cardiol Young     Publication Date:  2014 Jul 
Date Detail:
Created Date:  2014-7-15     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9200019     Medline TA:  Cardiol Young     Country:  -    
Other Details:
Languages:  ENG     Pagination:  1-3     Citation Subset:  -    
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