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. 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>.
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

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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:

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

  1. 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.
  2. Chin TK, Perloff JK, Williams RG, et al. Isolated noncompaction of left ventricular myocardium: a study of eight cases. Circulation. 1990; 82: 507–513.
  3. 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.


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