Noncompaction cardiomyopathy screening: Difference between revisions
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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
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Noncompaction Cardiomyopathy Microchapters |
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Pathophysiology |
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Differentiating Noncompaction Cardiomyopathy from other Diseases |
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Diagnosis |
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Treatment |
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Noncompaction cardiomyopathy screening On the Web |
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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