Journal article
Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase
European journal of human genetics : EJHG, Vol.18(10), pp.1160-1165
10/2010
DOI: 10.1038/ejhg.2010.83
PMCID: PMC2987458
PMID: 20551992
Abstract
Cardiomyopathies are common disorders resulting in heart failure; the most frequent form is dilated cardiomyopathy (DCM), which is characterized by dilatation of the left or both ventricles and impaired systolic function. DCM causes considerable morbidity and mortality, and is one of the major causes of sudden cardiac death. Although about one-third of patients are reported to have a genetic form of DCM, reported mutations explain only a minority of familial DCM. Moreover, the recessive neonatal isolated form of DCM has rarely been associated with a mutation. In this study, we present the association of a mutation in the
SDHA
gene with recessive neonatal isolated DCM in 15 patients of two large consanguineous Bedouin families. The cardiomyopathy is presumably caused by the significant tissue-specific reduction in SDH enzymatic activity in the heart muscle, whereas substantial activity is retained in the skeletal muscle and lymphoblastoid cells. Notably, the same mutation was previously reported to cause a multisystemic failure leading to neonatal death and Leigh's syndrome. This study contributes to the molecular characterization of a severe form of neonatal cardiomyopathy and highlights extreme phenotypic variability resulting from a specific missense mutation in a nuclear gene encoding a protein of the mitochondrial respiratory chain.
Details
- Title: Subtitle
- Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase
- Creators
- Aviva Levitas - , Beer-ShevaEmad Muhammad - , Beer-ShevaGali Harel - , Beer-ShevaAnn Saada - , JerusalemVered Chalifa Caspi - , Beer-ShevaEsther Manor - , Beer-ShevaJohn C Beck - , Iowa City, IAVal Sheffield - , Iowa City, IARuti Parvari - , Beer-Sheva
- Resource Type
- Journal article
- Publication Details
- European journal of human genetics : EJHG, Vol.18(10), pp.1160-1165
- Publisher
- Nature Publishing Group
- DOI
- 10.1038/ejhg.2010.83
- PMID
- 20551992
- PMCID
- PMC2987458
- ISSN
- 1018-4813
- eISSN
- 1476-5438
- Alternative title
- SDHA mutation in isolated neonatal cardiomyopathy
- Language
- English
- Date published
- 10/2010
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics; Ophthalmology and Visual Sciences
- Record Identifier
- 9984065388202771
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