Noncompaction cardiomyopathy genetics: Difference between revisions
Jump to navigation
Jump to search
| Line 3: | Line 3: | ||
==Overview== | ==Overview== | ||
Noncompaction cardiomyopathy can appear sporadically or can be familial. Several mutations have been identified. 18% <ref>Oechslin EN, Attenhofer Jost CH, Rojas JR, et al. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: | Noncompaction cardiomyopathy can appear sporadically or can be familial. Several mutations have been identified. 18% <ref>Oechslin EN, Attenhofer Jost CH, Rojas JR, et al. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol. 2000; 36: 493–500.</ref> to 50%<ref>Chin TK, Perloff JK, Williams RG, et al. Isolated noncompaction of left ventricular myocardium: a study of eight cases. Circulation. 1990; 82: 507–513.</ref> 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== | ||
Revision as of 14:12, 6 August 2011
|
Noncompaction Cardiomyopathy Microchapters |
|
Pathophysiology |
|---|
|
Differentiating Noncompaction Cardiomyopathy from other Diseases |
|
Diagnosis |
|
Treatment |
|
Noncompaction cardiomyopathy genetics On the Web |
|
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. 18% [1] to 50%[2] 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 [3].
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
- ↑ Oechslin EN, Attenhofer Jost CH, Rojas JR, et al. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol. 2000; 36: 493–500.
- ↑ Chin TK, Perloff JK, Williams RG, et al. Isolated noncompaction of left ventricular myocardium: a study of eight cases. Circulation. 1990; 82: 507–513.
- ↑ 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.