Familial hypertrophic cardiomyopathy. Genetic characterization

A, Tirone; Arteaga, Edmundo

doi:10.1590/s0066-782x1999000400012

Cited by 1 publication

(6 citation statements)

References 21 publications

(51 reference statements)

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“…The regulatory MYL2 gene is localized on chromosome 12 (12q23-q24.3). The essential gene is localized on chromosome 3 (3p) [1]. A large number of mutations have been identified in most S1 and S2 regions, which are associated with HCM in the MYH7 gene.…”

Section: βMyhc Versus Mybp-c Gene Polymorphismsmentioning

confidence: 99%

“…In another study performed by Ronkaratti et al, in the Italian population, it is found that the frequency of mutations determined in the MYH7 gene was found to be very low. Many factors, such as modifying genes, epigenetic factors, microRNAs, posttranslational protein modifications, and environmental factors, may affect the clinical course of HCM disease [1,10]. Genetic studies are required to understand the clinical and prognostic heterogeneity of HCM.…”

Section: βMyhc Versus Mybp-c Gene Polymorphismsmentioning

confidence: 99%

“…The cardiac troponin T gene is localized on chromosome 1 (1q3), and so far eight mutations have been identified in this gene. The most important feature of these mutations is that they cause hypertrophy and high incidence of sudden death in younger patients under 30 years of age [1].…”

Section: Cardiac Troponin T Gene Polymorphismsmentioning

confidence: 99%

“…Throughout life, it is known that it has a clinical course ranging from symptomatic patients to heart failure symptoms and sudden deaths. It is an autosomal dominant genetic disease in more than half of cases, but it still does not have a fully defined etiology [1]. Modifying genes and environmental factors play an important role in the pathogenesis of HCM.…”

Section: Introductionmentioning

confidence: 99%

“…Phenotypic expression and the formation of cardiovascular events are affected by means of these factors [2]. The cardiac β-myosin heavy chain (MYHC) gene, cardiac troponin T (cTnT) gene, α-tropomyosin gene, myosinbinding protein C (MYBP-C) gene, cardiac troponin I gene, and regulatory and essential myosin light chain genes are found among genes encoding the proteins of sarcomere [1]. These genes encoding sarcomeric proteins are localized on different chromosomes.…”

Section: Introductionmentioning

confidence: 99%

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Genetic Polymorphisms that Playing Role in Development of Hypertrophic Cardiomyopathy

Alkanlı¹,

Ay²

2020

Practical Applications of Electrocardiogram

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Hypertrophic cardiomyopathy (HCM) is a complex heart disease with various physiopathological, morphological, functional, and clinical features. In this disease, HCM is known to be an autosomal genetic disease in more than half of the cases. Mutations in sarcomeric genes are thought to play an important role in the pathogenesis of the disease. Modifying genes and environmental factors also together affect the phenotypic expression and severity of HCM. The phenotypic expression of HCM is determined by causal sarcomeric gene mutations and the regulatory genetic basis of genes. HCM, a multi-factorial disease, involves the effects of many environmental gene modifiers and the sarcomeric/cytoskeletal genes. The single nucleotide polymorphisms occurring in the human genome differ in terms of susceptibility to disease in various populations. Therefore, the determination of genetic polymorphisms involved in the development of HCM disease is very important for the diagnosis of the disease.

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Section: βMyhc Versus Mybp-c Gene Polymorphismsmentioning

confidence: 99%

Section: βMyhc Versus Mybp-c Gene Polymorphismsmentioning

confidence: 99%

Section: Cardiac Troponin T Gene Polymorphismsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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