Perspective of Two Genetic Variants Causing Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy, Report of Two Cases

The following two cases to be described are from patients who were admitted to our unit in the same clinical context, due to functional class deterioration (dyspnea), with structural alterations in echocardiogram consistent with cardiomyopathies, both with a family history of death due to heart failure in first-degree relatives, however once the genetic study was obtained from both patients, it was shown that, as well as the clinical context and history, the prognosis was not the same. The first case consists of a genetic variation of TMP1, a gene that encodes tropomyosin, causing asymmetric septal cardiomyopathy; Alterations in these proteins interfere with the mechanical properties of the sarcomere leading to hypertrophy and myocyte disorder; However, they are mutations with a good prognosis. The second clinical case involved a greater approach due to the more aggressive progression of the disease, finding in the genetic test a mutation in the LMNA gene causing dilated cardiomyopathy, mutations in the LMNA gene producing laminopathies, a more malignant genetic variant that other common DCMs due to high rates of adverse events such as sudden cardiac death, even when left ventricular failure is mild. Currently both are undergoing medical treatment, however in the case of the patient with the mutation in the LMNA gene, rapid progression has led to ICD placement and adjustment of pharmacological treatment, in addition to being in the waiting line for heart transplant.