Noncompaction cardiomyopathy screening
|
Noncompaction Cardiomyopathy Microchapters |
|
Pathophysiology |
|---|
|
Differentiating Noncompaction Cardiomyopathy from other Diseases |
|
Diagnosis |
|
Treatment |
|
Noncompaction cardiomyopathy screening On the Web |
|
Risk calculators and risk factors for Noncompaction cardiomyopathy screening |
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
- ↑ Botto, LD. Left ventricular noncompaction. Orphanet encyclopedia. http://www.orpha.net/data/patho/GB/uk-LVNC.pdf