Restrictive cardiomyopathy [23 genes]

Restrictive cardiomyopathy is a heart disease characterized by impaired ventricular filling in the absence of myocardial hypertrophy or significant impairment of systolic function. Patients usually present signs and symptoms of heart failure and increased mortality rate, requiring heart transplantation in many cases. Although many of the genes associated with this disease are associated with other types of cardiomyopathies (particularly hypertrophic and dilated), there are some predominantly related to this phenotype.

• It is able to identify the causal mutation, confirming the diagnosis of the disease. Due to the clinical heterogeneity and overlapping of 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 that should be under adequate clinical monitoring.

The probability of identifying a likely causal mutation in a patient under suspicion of restrictive cardiomyopathy is approximately 50%. The diagnostic yield is higher in cases with a clear phenotype and family history of the disease.