Non-Compaction Cardiomyopathy [48 genes]

The progression of the disease may present deteriorating cardiac function with the development of cardiac insufficiency, as well as malignant arrhythmias. Therefore, early diagnosis is important. Genetic testing is useful since:

• It is able to identify the causal mutation, confirming the diagnosis of the disease. Due to the clinical heterogeneity with much overlap between different phenotypes, it is very important for differential diagnosis.
• In case a pathogenic mutation is detected, it can be used as a predictive test. It is useful in genetic counseling since it can detect carriers at risk who should undergo adequate clinical monitoring.

The probability of identifying a likely causal mutation in a patient under suspicion of non-compaction cardiomyopathy varies due to the clinical heterogeneity of the disease. The diagnostic yield is higher in cases with a clear phenotype and family history of the disease. It is generally about 50%.