…disease. It combines a structured family history, clinical evaluation, cardiac investigations, genetic counselling and, where appropriate, molecular testing. The approach is particularly relevant to cardiomyopathies…

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…

Cardiology Genetic and miscellaneous conditions Definition and pathophysiology Familial hypercholesterolaemia (FH) is an inherited disorder characterized by persistently elevated plasma low density lipoprotein cholesterol (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…

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…

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…

…years). Another 9 affected individuals were presented in the study. All genetic tests, using gene panels for known gene mutations for cardiovascular disease, were negative…

[calc_hcmrisk] Predicting Sudden Cardiac Death in Hypertrophic Cardiomyopathy (HCM) Hypertrophic Cardiomyopathy (HCM) is a genetic cardiomyopathy characterized by left ventricular hypertrophy. It is the…

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…

…ICD implantation in high risk LQTS patients, emphasizing a comprehensive risk assessment that includes genetic factors and QTc duration. Risk Stratification and the 1 2…

…ICD implantation in high risk LQTS patients, emphasizing a comprehensive risk assessment that includes genetic factors and QTc duration. Risk Stratification and the 1 2…

…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…

…This required thousands of observational studies, genetic studies and randomized controlled clinical trials. This knowledge has been translated into remarkable advances in the management of…

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

…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…

…arrhythmias and therefore QT duration must always be assessed. QT prolongation may be congenital (due to genetic mutations) or acquired (secondary to medications, electrolyte disorders)…

…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]…

…the cooling process. Malignant hyperthermia Malignant hyperthermia may manifest under two primary circumstances: Due to a genetic mutation in the RYR1 receptor, resulting in persistent…

…However, the term dilated cardiomyopathy (DCM) refers to idiopathic or genetic dilation of the left ventricle . Patients with DCM typically develop heart failure early in…

…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…

…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…

…plexogenic, and sometimes thrombotic changes that may result in near total obliteration of affected vessels. Genetic, molecular, and acquired factors may interact in its development…

…dominant channelopathy with incomplete penetrance and variable expressivity. The first and most critical genetic locus identified was SCN5A , the gene encoding the alpha subunit of…

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

…system, electrolyte concentrations, and other factors (potentially also genetic predisposition) interact to trigger ventricular tachycardia or ventricular fibrillation. These factors interact and vary over time…

…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…

…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…

…prior bleeding (2 points) H ypertension, uncontrolled (1 point) A nemia (1 point) G enetic factors (e.g., CYP2C9 variants) (1 point) E xcessive fall…

…of ventricular tachycardia (VT). ECG showing polymorphic ventricular tachycardia degenerating into ventricular fibrillation. By Bagnall et al: BMC Medical Genetics 15 (2014): 99. Polymorphic vent

…of ventricular tachycardia (VT). ECG showing polymorphic ventricular tachycardia degenerating into ventricular fibrillation. By Bagnall et al: BMC Medical Genetics 15 (2014): 99. Polymorphic vent