Document Detail

High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria.
MedLine Citation:
PMID:  19767224     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: To characterize the frequency and nature of cardiovascular defects in patients with CblC-type methylmalonic aciduria and homocystinuria (cblC), an inborn error of cobalamin (vitamin B12) metabolism resulting in accumulation of methylmalonic acid and homocysteine. STUDY DESIGN: A retrospective observational study was conducted investigating 10 patients with cblC ranging in age from 2 weeks to 24 years (mean 4.4 years +/- 7.5 years, median 0.6 years). All patients underwent a complete 2-D echocardiogram including quantitative assessment of left ventricular systolic function. RESULTS: Structural heart defects were detected in 50% of patients with cblC. Heart defects included left ventricular (LV) non-compaction (3), secundum atrial septal defect (2), muscular ventricular septal defect (1), dysplastic pulmonary valve without pulmonary stenosis (1) and mitral valve prolapse with mild mitral regurgitation (1). One patient had resolved cor pulmonale and right heart failure secondary to pulmonary embolism. All patients had quantitatively normal LV systolic function. CONCLUSIONS: Diverse and clinically significant structural heart defects appear to be highly prevalent in cblC, perhaps due to abnormal DNA and histone methylation during embryogenesis. The specific cardiac defects detected in our cohort were variable, and studies with a larger number of patients are needed to establish which forms are most common. Routine and periodic cardiovascular evaluation may be indicated in patients with cblC.
Laurie E Profitlich; Brian Kirmse; Melissa P Wasserstein; George A Diaz; Shubhika Srivastava
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Publication Detail:
Type:  Journal Article     Date:  2009-08-12
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  98     ISSN:  1096-7206     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2009 Dec 
Date Detail:
Created Date:  2009-11-09     Completed Date:  2010-02-03     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  344-8     Citation Subset:  IM    
Mount Sinai School of Medicine, Department of Pediatrics, Division of Pediatric Cardiology, NY 10029, USA.
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MeSH Terms
Child, Preschool
Diagnostic Imaging
Folic Acid / metabolism
Heart Diseases / complications*,  epidemiology*,  ultrasonography
Homocystinuria / complications*
Infant, Newborn
Metabolism, Inborn Errors / complications*
Methylmalonic Acid / metabolism*
United States / epidemiology
Young Adult
Reg. No./Substance:
516-05-2/Methylmalonic Acid; 59-30-3/Folic Acid

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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