…interact to initiate and extend thrombosis. Plaque vulnerability is influenced by inflammation, plaque morphology and location, comorbidities, environmental factors and genetic background. Thrombotic susceptibility is…

…QT (QTc) interval May be prolonged. Arrhythmia Flecainide may induce Brugada syndrome in individuals with underlying genetic susceptibility. If ECG changes consistent with Brugada syndrome…

…Familial and genetic screening in cardiovascular medicine is the systematic assessment of relatives and other individuals who may carry an inherited predisposition to cardiovascular disease…

Cardiology Genetic and miscellaneous conditions Clinical Red Flags Raising Suspicion of Cardiac Amyloidosis Demographic and Clinical Context Cardiac amyloidosis should be suspected in patients older…

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…

…Reduced cellular uptake and clearance of LDL leads to increased circulating LDL C. The principal genetic mechanisms involve: Loss of function variants in the LDL…

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…

…Erythematosus (SLE) Acute myocardial infarction (AMI) Post infarction (including Dressler syndrome) Uremia Radiation to the heart Trauma Tuberculousis Neoplasms (cancer) Post cardiac surgery (hemorrhagic pericarditis)…

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…

…that only one mutated gene is necessary to develop the disorder. Till now (2016) more than 12 genetic mutations have been associated with the Brugada…

Arrhythmias and arrhythmology ECG Genetic and miscellaneous conditions The early repolarization pattern and syndrome: from ECG criteria to management Although the early repolarization pattern has…

…identified a novel familial (autosomal dominant) cardiac syndrome. The underlying genetic abnormality is yet to be discovered. Diagnosis of this syndrome is based on ECG…

…failure and arrhythmias. Family History of Sudden Cardiac Death (FHSCD) : A history of SCD in close relatives suggests a genetic predisposition to arrhythmias. Non Sustained…

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…

…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…

…SCN5A (LQT3). These genetic anomalies disrupt the cardiac ion channels, leading to delayed repolarization and an increased risk of life threatening arrhythmic events. The cornerstone…

…all beta blockers equivalent? Heart Rhythm, 14(1), e41–e44. Schwartz, P. J., Crotti, L., & Insolia, R. (2012). Long QT syndrome: From genetics to man

…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…

…and SCORE2 Older Persons (SCORE2 OP) are European risk prediction models designed to estimate 10 year risk of both fatal and non fatal CVD events…

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

…Genetic and Mendelian randomization studies support a causal relationship between Lp(a) associated genetic variants and coronary artery disease. Associations have also been extended to…

…cholesterol (LDL C). Increased PCSK9 activity therefore contributes to higher LDL C concentrations. The genetic evidence provides the rationale for therapeutic inhibition. Gain of function…

…QT duration predisposes to life threatening ventricular arrhythmias and therefore QT duration must always be assessed. QT prolongation may be congenital (due to genetic mutations)…

…drug accumulation secondary to renal or hepatic impairment or the inhibition of cytochrome P450 metabolism [1]. Nonmodifiable risk factors encompass female sex, underlying genetic predisposition…

…Due to a genetic mutation in the RYR1 receptor, resulting in persistent muscle contraction upon administration of halogenated anesthetic agents. As an idiosyncratic response to…

…DCM) Idiopathic or genetic . Ischemic cardiomyopathy Alcoholic cardiomyopathy Diabetic cardiomyopathy Takotsubo cardiomyopathy Tachycardia induced cardiomyopathy Non compaction cardiomyopathy Peripartum cardiomyopathy Cardiomyopathy secondary to valvular heart…

…clinical presentation of VT, with a deep dive into the underlying etiologies ranging from benign idiopathic variants to complex scar related and genetic substrates. Furthermore…

…study, PET, SPECT, genetic profiling — add information but are too costly or invasive to screen a population. The surface ECG is the obvious cheap, standardized…

…60 minutes after ingestion. Elimination follows zero order kinetics at low to moderate concentrations and first order kinetics at higher concentrations. Ethanol is water soluble…

…precapillary pulmonary vascular component. PAWP is used to distinguish pulmonary venous hypertension caused by left heart disease from pulmonary vascular disease. Although a PAWP of…

…BrS [8] . Consequently, the 2022 ESC guidelines recommend restricting routine diagnostic genetic testing in BrS strictly to SCN5A [2] . More recently, the paradigm has shifted…

…multiple villi . These myxomas are more likely to embolize (Cardiac Thromboembolism). There are genetic syndromes that result in the emergence of multiple myxomas. Papillary fibroelastoma…

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

…that up to 30 40% of "idiopathic" cases harbor a genetic basis. Truncating variants in the TTN gene (titin) are the most common genetic cause…

…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…

…bleeding risk prediction in AF patients, the HAS BLED score demonstrated superior predictive performance compared to both HEMORR₂HAGES and ATRIA. The HAS BLED score had…

…Bold text indicates agents commonly used to prevent or treat acute and subacute ventricular arrhythmias Classification of ventricular tachycardia (VT) Ventricular arrhythmia Definition and classification…

…Bold text indicates agents commonly used to prevent or treat acute and subacute ventricular arrhythmias Classification of ventricular tachycardia (VT) Ventricular arrhythmia Definition and classification…