Sudden cardiac death in young athletes: Literature review of molecular basis [PDF]
, 2020 Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue ...
Barbara Lombardo +5 more
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Restrictive cardiomyopathy and hypertrophic cardiomyopathy overlap: the importance of the phenotype
Cardiogenetics, 2012 Restrictive cardiomyopathy (RCM) is defined on the basis of the haemodynamic finding of restrictive ventricular physiology. However, restrictive ventricular pathophysiology is also a feature of other subtypes of cardiomyopathy, including hypertrophic ...
Juan Pablo Kaski +4 more
doaj +1 more source
Generation of three TTN knock-out human induced pluripotent stem cell lines using CRISPR/Cas9 system
Stem Cell Research, 2022 TTN mutations are the common genetic cause for various types of cardiomyopathies (e.g., dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy) and skeletal myopathies.
Ji-Young Kang +7 more
doaj +1 more source
Survival of patients with cardiomyopathies [PDF]
Българска кардиология, 2021 Cardiomyopathies are a heterogeneous group of diseases. The main pathogenetic mechanism is myocardial damage due to genetic mutations. Cardiomyopathies are one of the leading causes of heart failure, sudden cardiac death, and life-threatening arrhythmias.
Monika Shumkova +4 more
doaj +3 more sources
Journal of the Practice of Cardiovascular Sciences, 2016 Isolated cardiac involvement due to deposition of desmin is a rare cause of restrictive cardiomyopathy due to pathogenic mutation in desmin related genes.
Kalpana Kumari +3 more
doaj +1 more source
Amino Acid Changes at Arginine 204 of Troponin I Result in Increased Calcium Sensitivity of Force Development. [PDF]
, 2016 Mutations in human cardiac troponin I (cTnI) have been associated with restrictive, dilated, and hypertrophic cardiomyopathies. The most commonly occurring residue on cTnI associated with familial hypertrophic cardiomyopathy (FHC) is arginine (R), which ...
Cui, Ziyou +4 more
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A Case of Rare Inherited Restrictive Cardiomyopathy With Severe Biatrial Enlargement
JACC: Case Reports, 2019 We describe a case of inherited restrictive cardiomyopathy in a patient presenting with severe biatrial enlargement. We review the evaluation and management of restrictive cardiomyopathy with a focus on genetic etiologies.
Navid A. Nafissi, MD +5 more
doaj +1 more source
Molecular analysis of sarcomeric and non-sarcomeric genes in patients with hypertrophic cardiomyopathy. [PDF]
, 2015 Background: Hypertrophic cardiomyopathy (HCM) is a common genetic heart disorder characterized by unexplained left ventricle hypertrophy associated with non-dilated ventricular chambers.
BOTTILLO, IRENE +12 more
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Exercise and hypertrophic cardiomyopathy: Two incompatible entities? [PDF]
, 2020 A greater understanding of the pathogenic mechanisms underpinning hypertrophic cardiomyopathy (HCM) has translated to improved medical care and better survival of affected individuals.
Basu, J, Malhotra, A, Papadakis, M
core +1 more source
Rhabdomyolysis in the Setting of Concomitant Use of Tafamidis, Atorvastatin, and Amiodarone
JACC: Case Reports, 2020 An 85-year-old women with transthyretin cardiac amyloidosis presented with generalized weakness, elevated liver function test levels, and creatinine kinase consistent with rhabdomyolysis 1 week after starting tafamidis.
Jessica Laird, BA +3 more
doaj +1 more source