Restrictive cardiomyopathy [22 genes]

Restrictive cardiomyopathy is a cardiac disease characterized by an inability to fill the ventricle in the absence of myocardial hypertrophy or significant impairment of systolic function. Patients usually present signs and symptoms of heart failure, with high mortality, and in many cases, requiring a heart transplant. Although a large part of the genes associated with this pathology are also associated with other types of cardiomyopathies (especially hypertrophic and dilated).

Very rare. Incidence in children of 1 / 3.000 (PMID: 12711738).

• It can identify the causal mutation, which confirms the diagnosis of the disease. Due to the clinical heterogeneity, with a lot of overlap between different phenotypes, it is very important in the differential diagnosis. Identifying the specific cause of the disease can have important implications for clinical decision-making and prognosis, both in children and adults.
• When a pathogenic mutation is detected, the test can be used with predictive value for disease. It can be useful in genetic counseling since it allows us to detect carriers at risk who must have adequate clinical follow-up.

This panel has been specifically designed as a first diagnostic approach in a patient with a clear phenotype of restrictive cardiomyopathy.

Study performance: 50-60%. The diagnostic yield could be higher in cases with a clear phenotype and family history of the disease.