…history remains clinically useful for estimating risk. Pathophysiology and genetic principles Penetrance and variable expression A pathogenic variant does not invariably result in clinical disease…

…circulating LDL C. The principal genetic mechanisms involve: Loss of function variants in the LDL receptor gene, LDLR, which account for most cases. Variants in…

…genes have been discovered. Genetic testing for DCM Genetic testing of patients with confirmed or likely dilated cardiomyopathy can be recommended. There are several commercially…

…Consequently, current guidelines recommend a 3 generation family history and consideration of genetic testing for all patients with non ischemic HFrEF. Toxic and infiltrative causes…

…only SCN5A possesses definitive disease gene validity for BrS [8] . Consequently, the 2022 ESC guidelines recommend restricting routine diagnostic genetic testing in BrS strictly to…

…at least once in every adult’s lifetime. Testing is particularly relevant in: individuals with premature atherosclerotic cardiovascular disease; patients with familial hypercholesterolaemia or very…

…A history of increasing frequency of hospitalizations and visits for heart failure without disease recognition in the 3 years preceding diagnosis is also a notable…

Cardiology Genetic and miscellaneous conditions Definition and classification Coronary anomalies are congenital abnormalities involving the origin, course, distribution, or termination of the coronary arteries. They…

ECG Genetic and miscellaneous conditions J wave syndromes: early repolarization pattern, Brugada syndrome, hypercalcemia and hypothermia The J wave – also referred to as Osborn's…

ECG Genetic and miscellaneous conditions Eletrical alternans: an ECG sign of pericardial effusion and cardiac tamponade The pericardial space (cavity) always contains a small amount…

ECG Genetic and miscellaneous conditions Pericarditis, myocarditis and perimyocarditis: ECG changes and clinical features The pericardium is a double walled sac in which the heart…

ECG Genetic and miscellaneous conditions Takotsubo cardiomyopathy (broken heart syndrome, apical ballooning syndrome, stress induced cardiomyopathy) Takotsubo cardiomyopathy (broken heart syndrome) is a rather peculiar…

Arrhythmias and arrhythmology ECG Genetic and miscellaneous conditions Brugada syndrome: A life threatening arrhythmia with unknown prevalence Pedro Brugada and his two brothers, Josep and…

…ECG Genetic and miscellaneous conditions The early repolarization pattern and syndrome: from ECG criteria to management Although the early repolarization pattern has been recognized for…

…gene mutations for cardiovascular disease, were negative. Summary Bundgaard et al have presumably identified a novel familial (autosomal dominant) cardiac syndrome. The underlying genetic abnormality…

…risk factor for heart failure and arrhythmias. Family History of Sudden Cardiac Death (FHSCD) : A history of SCD in close relatives suggests a genetic predisposition…

Echocardiography Hypertrophic cardiomyopathy (HCM): from pathophysiology to echocardiography Hypertrophic cardiomyopathy is a genetic disorder that causes left ventricular hypertrophy under normal loading conditions. Hypertrophic cardiomyopathy…

…the disease is one of the most common causes of sudden cardiac arrest among adolescents and athletes (hypertrophic cardiomyopathy is the most common cause). Genetic…

…genetic factors and QTc duration. Risk Stratification and the 1 2 3 LQTS Risk Model Accurate risk stratification is pivotal in guiding therapeutic decisions for…

…genetic factors and QTc duration. Risk Stratification and the 1 2 3 LQTS Risk Model Accurate risk stratification is pivotal in guiding therapeutic decisions for…

…management because LDL and other apolipoprotein B containing lipoproteins play a causal role in atherosclerotic cardiovascular disease (ASCVD). This causal relationship is supported by genetic…

…Moderate or severe chronic kidney disease (CKD) Hypertension mediated organ damage (HMOD) Probable or definite familial hypercholesterolaemia Other markedly abnormal single risk factors or genetic…

…years for researchers to finally conclude that high cholesterol levels caused coronary artery disease and atherosclerosis in general. This required thousands of observational studies, genetic…

…The genetic evidence provides the rationale for therapeutic inhibition. Gain of function PCSK9 mutations are associated with familial hypercholesterolaemia (FH) and premature coronary heart disease…

…of the QT interval (QT duration). The QT duration represents the total time for depolarization and repolarization. It is measured from the beginning of the…

…plaque morphology and location, comorbidities, environmental factors and genetic background. Thrombotic susceptibility is likewise affected by inflammation and other systemic influences. The severity of myocardial…

…cytochrome P450 metabolism [1]. Nonmodifiable risk factors encompass female sex, underlying genetic predisposition, structural heart disease, and diabetes [1]. Although TdP and subsequent sudden death…

…6°C (97.7 99.7°F). It arises when heat production or acquisition surpasses the body's capacity for heat elimination. Hyperthermia can induce an inflammatory…

…etiologies ranging from benign idiopathic variants to complex scar related and genetic substrates. Furthermore, it critically examines the diagnostic algorithms for wide complex tachycardia (WCT)…

Continous medical discussion: the ECG blog ECG A deep learning ECG biomarker for sudden cardiac death: what the new Nature study shows Low risk (blue…

…exposure produces transient haemodynamic and myocardial effects, whereas sustained heavy consumption is associated with hypertension, coronary artery disease, arrhythmias, heart failure and alcohol related cardiomyopathy…

…including acute responders and non responders. Left heart disease is the most common risk factor for PH. It produces postcapillary PH through elevation of left…

…on the coronary arteries. The tumors can be asymptomatic for a long time and be detected randomly when investigating other conditions. More dramatic onset of…

…which has recorded causes of cardiac arrest with a separate category for cardiac etiologies. Cause Definition Medical cause Includes cardiac arrest caused by heart disease…

…channel blockers (inhibitors). The reader will notice that most of these drugs are contraindicated in patients with structural heart disease, as well as patients with…

…Aspirate and biopsy answer different questions and do not replace one another: the aspirate shows cellular morphology and provides material for flow cytometry and genetics…

…NANDROLONE DECANOATE Nandrolone Decanoate NA sp ambiguous Caution is required for patients with cardiac disease Bleomycin BLEOMYCIN BLEOMYCIN SULFATE Heart Damage wp less hypotension mild…

…the HEMORR₂HAGES Score The acronym HEMORR₂HAGES represents the following parameters: H epatic or renal disease (1 point) E thanol abuse (1 point) M alignancy (1…

…to navigate to the section): Classification of antiarrhythmic drugs. Classification of ventricular tachyarrhythmias. General principles for the management of VT/VF. Antiarrhythmic agents: doses, indications…

…to navigate to the section): Classification of antiarrhythmic drugs. Classification of ventricular tachyarrhythmias. General principles for the management of VT/VF. Antiarrhythmic agents: doses, indications…