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

…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…

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

…moderate or near a treatment decision threshold. Failure to account for a high Lp(a) level may lead to substantial underestimation of cardiovascular risk. Conversely…

…visits for heart failure without disease recognition in the 3 years preceding diagnosis is also a notable red flag [8]. Furthermore, intolerance to beta blockers…

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…

…a genetic etiology. The genetic mechanisms underlying hypertrophic cardiomyopathy are complicated and some gene variants may only cause hypertrophy under certain loading conditions (i.e…

…Cardiomyopathy / Dysplasia (ARVC, ARVD) Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is considered a genetic cardiomyopathy that predominantly affects the right ventricle. ARVC is defined by the…

…line treatment for reducing arrhythmic risk across all LQTS genotypes. These medications mitigate adrenergic stimulation, thereby decreasing the likelihood of arrhythmia onset. However, beta blockers…

…line treatment for reducing arrhythmic risk across all LQTS genotypes. These medications mitigate adrenergic stimulation, thereby decreasing the likelihood of arrhythmia onset. However, beta blockers…

…other apolipoprotein B containing lipoproteins play a causal role in atherosclerotic cardiovascular disease (ASCVD). This causal relationship is supported by genetic, observational and interventional evidence…

…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…

…activity therefore contributes to higher LDL C concentrations. The genetic evidence provides the rationale for therapeutic inhibition. Gain of function PCSK9 mutations are associated with…

…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…

…hepatic impairment or the inhibition of cytochrome P450 metabolism [1]. Nonmodifiable risk factors encompass female sex, underlying genetic predisposition, structural heart disease, and diabetes [1]…

…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…

…duration, sex and genetic predisposition. Acute cardiovascular effects Acute ethanol exposure has a negative inotropic effect and promotes peripheral vasodilation through reduced systemic vascular resistance…

…principal haemodynamic definition uses PVR 2 Wood units. PVR is essential for identifying a precapillary pulmonary vascular component. PAWP is used to distinguish pulmonary venous…

…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…

…genetic predisposition) interact to trigger ventricular tachycardia or ventricular fibrillation. These factors interact and vary over time. Some factors vary from second to second (e…

…and electrolyte imbalance ECG The effect of antiarrhythmic drugs, beta blockers and calcium channel blockers on rhythm, conduction and ECG waveforms Although the purpose of…

…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…

…DICT = Drug induced cardiotoxicity Trade Name Generic/Proper Name(s) Active Ingredient(s) Cardiotoxicity Label Section DICT Concern Cardiac side effects Severity of cardiotoxicity…

…point) R e bleeding risk, i.e., prior bleeding (2 points) H ypertension, uncontrolled (1 point) A nemia (1 point) G enetic factors (e.g…

…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…