Noncompaction cardiomyopathy genetics: Difference between revisions
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==Overview== | ==Overview== | ||
Noncompaction cardiomyopathy can appear sporadically or can be familial. Several mutations have been identified. 40% of family members are affected. There is predominantly an [[autosomal dominant]] mode of inheritance. There are more males with NCC than females which suggests a [[X linked pattern]] of inheritance in some patients. | Noncompaction cardiomyopathy can appear sporadically or can be familial. Several mutations have been identified. 40% of family members are affected. There is predominantly an [[autosomal dominant]] mode of inheritance. There are more males with NCC than females which suggests a [[X linked pattern]] of inheritance in some patients. Noncompaction of ventricular myocardium was recently included in the 2006 classification of [[cardiomyopathy|cardiomyopathies]] as a genetic cardiomyopathy <ref name= AHA>{{Cite journal | last =Maron| first =Barry. | last2 =Towbin | first2 =Jeffrey. | last3 =Thiene| first3 =Gaetano | last4 =Antzelevitch| first4 =Charles | last5 =Corrado| first5 =Domenico. | title = Contemporary Definitions and Classification of the Cardiomyopathies | journal = American Heart Association Journals | publisher = American Heart Association t | volume = 113 | issue =14 | pages =| year =2006 | url= http://circ.ahajournals.org/cgi/content/full/113/14/1807| format = webpage | id = 113:1807-1816}}</ref>. | ||
==Genetics== | ==Genetics== | ||
Several potential genetic abnormalities have been identified: | Several potential genetic abnormalities have been identified: | ||
*One defect is in the gene that encodes for [[alpha-dystrobrevin]]. This is a [[dystrophin-associated protein]] which has been mapped to [[chromosome 18q12]]. The role of this protein is to preserve the structural integrity of the muscle membrane. | *One defect is in the gene that encodes for [[alpha-dystrobrevin]]. This is a [[dystrophin-associated protein]] which has been mapped to [[chromosome 18q12]]. The role of this protein is to preserve the structural integrity of the muscle membrane. | ||
Revision as of 14:09, 6 August 2011
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Noncompaction Cardiomyopathy Microchapters |
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Differentiating Noncompaction Cardiomyopathy from other Diseases |
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Noncompaction cardiomyopathy genetics On the Web |
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Risk calculators and risk factors for Noncompaction cardiomyopathy genetics |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Noncompaction cardiomyopathy can appear sporadically or can be familial. Several mutations have been identified. 40% of family members are affected. There is predominantly an autosomal dominant mode of inheritance. There are more males with NCC than females which suggests a X linked pattern of inheritance in some patients. Noncompaction of ventricular myocardium was recently included in the 2006 classification of cardiomyopathies as a genetic cardiomyopathy [1].
Genetics
Several potential genetic abnormalities have been identified:
- One defect is in the gene that encodes for alpha-dystrobrevin. This is a dystrophin-associated protein which has been mapped to chromosome 18q12. The role of this protein is to preserve the structural integrity of the muscle membrane.
- There is a second X-linked genetic defect which involves a mutation in the gene G4.5 (TAZ), the same gene involved in Barth syndrome. As a result, some patients with NCC have features of Barth syndrome. This gene which encodes for tafazzin.
- Mutations of the ryanodine receptor 2 gene (RyR2) as has been seen in patients with arrhythmogenic right ventircular dysplasia.
- Deletions of the FKBP12 gene result in noncompaction in the mouse.
- LMNA mutations
- Abnormalities of trnascription factors such as NKX2.5 and TBX5.
- Abnormalities of 11p15 as suggested in a GWAS analysis.
- 22q11 deletion
The majority of the time the pattern of inheritance is autosomal dominant. In some families, the mode of transmission appears to be x-linked or via mitochondrial transmission.
References
- ↑ Maron, Barry.; Towbin, Jeffrey.; Thiene, Gaetano; Antzelevitch, Charles; Corrado, Domenico. (2006). "Contemporary Definitions and Classification of the Cardiomyopathies" (webpage). American Heart Association Journals. American Heart Association t. 113 (14). 113:1807-1816.