Abstract
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.
Highlights
Introduction and ObjectivesHypertrophic cardiomyopathy is the most common genetic cardiovascular disease
This report shows a Colombian family with Hypertrophic cardiomyopathy (HCM) in which the disease onset has been sudden cardiac death (SCD) and genetic study found no causal mutation
The authors of this study found a novel mutation (K247R) in a woman with severe septal hypertrophy but with no family history of HCM or sudden death and no other family members available to be examined
Summary
Introduction and ObjectivesHypertrophic cardiomyopathy is the most common genetic cardiovascular disease. Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease with a prevalence close to 0.2% [1,2] It is characterized by left ventricular hypertrophy with no hemodynamic or infiltrative cause [3]. The clinical manifestations vary from asymptomatic patients to severe heart failure or sudden cardiac death (SCD) [4]. The latter may be the first manifestation of the disease and constitutes the most common cause of death among young athletes [5]. The genetic evaluation of this disease has progressed rapidly, leading to the description of mutations in at least 27 genes encoding for sarcomere proteins, mitochondrial proteins and proteins that manipulate calcium control [7] Some of the predisposing factors for suffering SCD include: recovery from previous SCD, syncope, family history of SCD, nonsustained ventricular tachycardia, severe septal hypertrophy (>30 mm) or hypotension during exercise [6].
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