Study of a Colombian Family with Hypertrophic Cardiomyopathy and Sudden Cardiac Death Associated with the Lys247arg Mutation in the Cardiac Troponin T (Tnnt2) Gene: Casual Relationship or Polymorphism?
Guillermo Mora Pabón1* , Juan Fernando Agudelo1, Diego Alberto Molina1, Maria Fernanda Garcés2, Jorge Eduardo Caminos2, Karen Orjuela2, Catarina Allegue3,4, Rocio Gil3,4, Angel Carracedo3,4 and Maria Brion3,4
- Corresponding Author:
- Guillermo Mora
Carrera 30 No 43-05 Ciudad Universitaria
Facultad de Medicina. Bogotá, Colombia
E-mail: [email protected]
Received date: February 16, 2014; Accepted date: May 26, 2014; Published date: June 20, 2014
Citation: Mora GP, Agudelo JF, Molina DA, Garcés MF, Caminos JE, et al. (2014) Study of a Colombian family with Hypertrophic Cardiomyopathy and Sudden Cardiac Death Associated with the Lys247arg Mutation in the cardiac troponin T (Tnn2) Gene: Casual Relationship or Polymorphism?. J Mol Genet Med 8:112. doi: 10.4172/1747-0862.1000112
Copyright: © 2014 Mora GP, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author(s) and source are credited.
Introduction and Objectives: Hypertrophic cardiomyopathy is the most common genetic cardiovascular disease. Mutations have been described in at least 27 genes that can encode sarcomere proteins, mitochondrial proteins and proteins that control calcium handling. This report shows a family with Hypertrophic cardiomyopathy in the presence of sudden death. Methods: We performed a clinical, genetic and molecular biology to establish the phenotypic and genotypic commitment of this disease. We analyzed a total of 592 mutations in 16 genes spread ACTC, GLA, MYBPC3, MYH6, MYH7, MYL2, MYL3, MYLK2, MYO6, PRKAG2, TCAP, TNN1, TNNI3, TNN2, TPM1 and TTN. Results: We determined phenotypic and genotypic characteristics of 37 members belonging to one family in five generations. Lys247Arg (K247R) mutation was found in 13 family members (38.23%) of which 3 had hypertrophy on echocardiography, but two patients had hypertrophy and they did not have the mutation. Moreover, a patient carries the mutation but the mother does not. The father (not related to the family) carries this mutation. Conclusions: We present a Colombian family with hypertrophic cardiomyopathy and sudden death where described causal mutations in the sarcomeric genes were evaluated. K247R genetic variant in the Troponin T type 2 gene was found with no correspondence to the phenotypic expresion of the disease in the family.