THE POLYMORPHISMS LDB3 (rs45618633), TAZ (rs104894941), LMNA (rs28928903), DTNA (rs7243528) AND TNNT2 G/T (rs2365652) AND ITS ASSOCIATION WITH NON-COMPACTED CARDIOMYOPATHY IN MEXICAN MESTIZO FAMILY

Introduction: Noncompacted cardiomyopathy (NCC) has been attributed to the mutation in multiple genes leading to interruption in the endomyocardial compaction process. Objective: The objective of this work was to identify gene variants that participated in the development of NCC in a Mexican mestizo family. Material and methods: A total of 36 (85.7%) individuals from a family of 42 members were studied. All patients underwent clinical history, transthoracic echocardiography and the polymorphisms: LDB3, TAZ, LMNA, DTNA and TNNT2 G/T were obtained from whole blood. Results: The NCC was present in 36.1% of the patients. Seven are first-generation relatives, of whom 6 presented NCC. Thirty-three second-generation relatives of whom 6 patients were positive for the disease and 2 third-generation individuals without NCC. When evaluating those with NCC vs those without NCC, differences in diastolic diameter, systolic diameter, left atrium size, left ventricular ejection fraction, and pulmonary artery systolic pressure were found. Conclusions: 36.1% of patients in the Mexican mestizo family studied developed NCC and 100% presented the A and C alleles in the polymorphisms (rs 45618633) of the LDB3 gene and (rs 104894941) of the TAZ gene. At follow-up, 30.7% of patients with NCC died.