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Noncompaction cardiomyopathy is an inheritable disease, and if a family member is affected, consideration should be given to screening other family members.  Symptoms may be quite variable in different family members. Recurrence occurs in about 40% of family members.
Noncompaction cardiomyopathy is an inheritable disease, and if a family member is affected, consideration should be given to screening other family members.  Symptoms may be quite variable in different family members. Recurrence occurs in about 40% of family members.


At least two genetic abnormalities have been identified.  
At least two genetic abnormalities have been identified<ref>Botto, LD. Left ventricular noncompaction. Orphanet encyclopedia. http://www.orpha.net/data/patho/GB/uk-LVNC.pdf </ref>.  
*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.
*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.
*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.

Revision as of 11:52, 6 August 2011

Noncompaction Cardiomyopathy Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Noncompaction cardiomyopathy is an inheritable disease, and if a family member is affected, consideration should be given to screening other family members. Symptoms may be quite variable in different family members. Recurrence occurs in about 40% of family members.

At least two genetic abnormalities have been identified[1].

  • 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.

References

  1. Botto, LD. Left ventricular noncompaction. Orphanet encyclopedia. http://www.orpha.net/data/patho/GB/uk-LVNC.pdf