Rare Association of two Genetic Causes of Sudden Death in a Young Survivor

Brito, Dulce; Magalhães, Andreia; Cortez-Dias, Nuno; Miltenberger-Miltényi, Gábriel

doi:10.5935/abc.20170016

Cited by 2 publications

(1 citation statement)

References 5 publications

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“…Experimental studies showed that this variant disrupts mRNA splicing, leading to a loss of protein function [ 64 ]. Some studies reported a MYBPC3 mutation in patients showing the Brugada phenotype [ 65 , 66 ]. In addition, the literature reported cases of Brugada phenocopies in patients carrying a pathogenic mutation in the MYBPC3 gene [ 67 ], speculating that Brugada type 1 ECG could be an early sign of an occult structural heart disease.…”

Section: Discussionmentioning

confidence: 99%

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes

et al. 2022

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The diffusion of next-generation sequencing (NGS)-based approaches allows for the identification of pathogenic mutations of cardiomyopathies and channelopathies in more than 200 different genes. Since genes considered uncommon for a clinical phenotype are also now included in molecular testing, the detection rate of disease-causing variants has increased. Here, we report the prevalence of genetic variants detected by using a NGS custom panel in a cohort of 133 patients with inherited cardiomyopathies (n = 77) or channelopathies (n = 56). We identified 82 variants, of which 50 (61%) were identified in genes without a strong or definitive evidence of disease association according to the NIH-funded Clinical Genome Resource (ClinGen; “uncommon genes”). Among these, 35 (70%) were variants of unknown significance (VUSs), 13 (26%) were pathogenic (P) or likely pathogenic (LP) mutations, and 2 (4%) benign (B) or likely benign (LB) variants according to American College of Medical Genetics (ACMG) classifications. These data reinforce the need for the screening of uncommon genes in order to increase the diagnostic sensitivity of the genetic testing of inherited cardiomyopathies and channelopathies by allowing for the identification of mutations in genes that are not usually explored due to a currently poor association with the clinical phenotype.

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Section: Discussionmentioning

confidence: 99%

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes

et al. 2022

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Athletic heart adaptation, pathological hypertrophy and sudden cardiac death

Abibillaev¹,

Kocyigit²

2020

HVT

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Cardiac hypertrophy has been continuing as the subject of the ‘hottest’ topic in research field for a long time since it creates pathophysiologic and clinical issues by structural and functional alterations of heart. Probably, it is explained by the prevalence of cardiovascular disorders in all-cause mortality. It seems that, on the basis of a contemporary data, the perception of ‘benign’ nature of the cardiac hypertrophy in athletic population is blurred. The improvement of imaging modalities and assessment tools largely contributed to comprehensive integration of scientific and clinical standpoints of athletic hypertrophy. Conventionally pathologic hypertrophy believed to be developed in a case of cardiovascular diseases, while the athlete’s heart resulted by long-standing physical training. According to recent evidence, a gray zone of hypertrophy became emerged between physiological and pathological entities, which require further extensive investigations. The emerging huge challenges in sports cardiology are overtraining and doping abuse of elite athletes by the development of an excessive cardiac hypertrophy with the increased risk of cardiovascular adverse outcomes. Additionally, the higher prevalence of sudden cardiac death in sportsmen compared to sedentary matches, especially in case of athletes with known or suspected cardiovascular diseases necessitated scrupulous investigation of athletic heart syndrome. The development, variety and severity of cardiac hypertrophy fluctuate by sportive branch and training mode. The significance of problem is more emphasized when cohort studies represented survival differences by means of cardiovascular parameters between athletes and sedentary subjects and cardiac patients. In this review, we aimed to represent recent physiological and clinical standpoints regarding to athletic heart syndrome as well as its difference from sedentary heart changes and pathological hypertrophy, its association with sudden cardiac death.

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Rare Association of two Genetic Causes of Sudden Death in a Young Survivor

Cited by 2 publications

References 5 publications

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes

Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes

Athletic heart adaptation, pathological hypertrophy and sudden cardiac death

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