Noncompaction cardiomyopathy genetic testing

Genetic testing can be of use in counseling family members.

40% of family members will be affected.

Known mutations should be tested for. Examples include the following:

• 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.