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Revista Uruguaya de Cardiología

versión impresa ISSN 0797-0048versión On-line ISSN 1688-0420


ORTIZ-GENGA, Martín F.; OCHOA, Juan P.  y  MONSERRAT, Lorenzo. Genetic contributions to the study and clinical management of cardiomyopathies. Rev.Urug.Cardiol. [online]. 2018, vol.33, n.3, pp.314-357. ISSN 0797-0048.

Cardiomyopathies are heterogeneous diseases associated with sudden death in the young. The diagnosis and associated prognosis is sometimes difficult to establish. The genetic study could be an important tool for the clinical work-up of patients and families with these diseases. Cardiomyopathies are usually monogenic diseases, with incomplete penetrance and variable clinical expressivity. Several genes are associated with the same phenotype, and a particular gene could be related with different diseases. All the genes related with a particular phenotype could be study with the available sequencing technology at a reasonable price and turnaround time for the results. The yield of genetic tests depends on the type of cardiomyopathy and is specifically driven by the clinical pre-test probability of each case. The interpretation of genetic studies is complex and the main challenge for the correct clinical application of the results. Interpretation depends on several variables and should be performed by multidisciplinary teams with clinical and genetic expertise on cardiomyopathies. A positive genetic study could contribute with important diagnostic and prognostic information for the patient and the family. This information could be useful for life-style modifications, specific treatment selection and, in some cases, to decide the correct moment for primary prevention device’s implantation. Cascade family screening after a positive genetic diagnosis is a cost-effective strategy for health-care systems.

Palabras clave : Cardiomyopathies; Sudden death.

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