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background: familial hypertrophic cardiomyopathy (hcm) is caused by mutations in genes encoding cardiac sarcomere proteins. nowadays genetic testing of hcm plays an important role in clinical practice by contributing to the diagnosis, prognosis, and screening of high-risk individuals. the aim of this study was developing a reliable testing strategy for hcm based on linkage analysis and appropri...

eutrophication is known as the most common problem in water bodies, caused by high concentrations of different nutrients leading to unbalanced growth of aquatic plants, among other symptoms. hence, the possibility of eutrophication prediction can be beneficial to the sustainable management of these natural resources and create an opportunity to control their trophic conditions over time. a soft...

The information available on the correlation between genotype and phenotype and the prognostic implications of different troponin-T gene mutations is sparse and, at times, contradictory. We studied the TNNT2 gene in 127 patients with hypertrophic cardiomyopathy and identified three mutations in patients from four families (3.1%): the Phe87Leu mutation, which has not been previously reported, th...

OBJECTIVE To see the pathological features of this disease in our set up and to emphasise the importance of morphological examination in making the diagnosis of hypertrophic cardiomyopathy (HCM) especially in cases of sudden cardiac death. METHODS A retrospective, descriptive study of 15 autopsies of this particular disease was carried out at the Armed Forces Institute of Pathology (AFI) Rawa...

Familial hypertrophic cardiomyopathy (FHC) is a serious heart disease that often leads to a sudden cardiac death of young athletes. It is believed that the alteration of the kinetics of interaction between actin and myosin causes FHC by making the heart to pump blood inefficiently. We set out to check this hypothesis ex vivo. During contraction of heart muscle, a myosin cross-bridge imparts per...

Hypertrophic cardiomyopathy, the most common inherited cardiomyopathy is well known to be the leading cause of sudden cardiac death in young people. However, amongst the population of patients, a small subset bears increased risk of sudden cardiac death and would benefit from implantation of a defibrillator, currently recognized utilizing a series of established risk factors. This risk stratifi...

Heart failure is associated with death of cardiomyocytes leading to loss of contractility. Previous studies using membrane-targeted Akt (myristolated-Akt), an enzyme involved in antiapoptotic signaling, showed inhibition of cell death and prevention of pathogenesis induced by cardiomyopathic stimuli. However, recent studies by our group have found accumulation of activated Akt in the nucleus, s...

Sudden cardiac death (SCD) is the biggest challenge of all sports emergencies, as it leading cause preventable deaths in both professional and recreational athletes. There also an ongoing concern about COVID-19-associated pathology among athletes because myocarditis important SCD during exercise. Hypertrophic cardiomyopathy represents 24% Unexplained Death (normal heart at autopsy) 34% SCD. To ...