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…

…gain of function mutations in SCN5A (LQT3). These genetic anomalies disrupt the cardiac ion channels, leading to delayed repolarization and an increased risk of life…

…gain of function mutations in SCN5A (LQT3). These genetic anomalies disrupt the cardiac ion channels, leading to delayed repolarization and an increased risk of life…

…current ($I {Na}$) and are identified in 20% to 30% of probands [7] . Historically, expanded genetic panels implicated over 20 other genes (e.g.…

…or other non autosomal dominant mechanisms. Complex or multifactorial genetic architecture. The inheritance pattern affects the appropriate scope and duration of family surveillance. For example…

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…

…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…

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

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…

…segment elevations in leads V1–V3. Prevalence and genetics of Brugada syndrome The prevalence of Brugada syndrome remains largely unknown. Available data suggest that it…

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…

…autosomal dominant) cardiac syndrome. The underlying genetic abnormality is yet to be discovered. Diagnosis of this syndrome is based on ECG, family history and clinical…

…history of SCD in close relatives suggests a genetic predisposition to arrhythmias. Non Sustained Ventricular Tachycardia (NSVT) : Episodes of VT are a strong predictor of…

…genetic mechanisms underlying hypertrophic cardiomyopathy are complicated and some gene variants may only cause hypertrophy under certain loading conditions (i.e in the presence of…

…Right Ventricular Cardiomyopathy (ARVC) is considered a genetic cardiomyopathy that predominantly affects the right ventricle. ARVC is defined by the gradual loss of myocardial cells…

…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…

Cardiology Definition and purpose Cardiovascular risk assessment estimates an individual’s probability of experiencing cardiovascular disease (CVD) over a defined period. SCORE2 and SCORE2 Older…

…a true cause of coronary artery disease. What is the evidence? The evidence is vast. Some examples follow. Consider people with the genetic disorder familial…

… enhancement of a prothrombotic state. Its atherogenic and inflammatory effects may be mediated partly by oxidized phospholipids carried on the particle. Genetic and Mendelian randomization…

…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…

…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)…

…environmental factors and genetic background. Thrombotic susceptibility is likewise affected by inflammation and other systemic influences. The severity of myocardial injury is determined not only…

…genetic predisposition, structural heart disease, and diabetes [1]. Although TdP and subsequent sudden death are rare, the arrhythmia is precipitated by an extensive list of…

…manifest under two primary circumstances: Due to a genetic mutation in the RYR1 receptor, resulting in persistent muscle contraction upon administration of halogenated anesthetic agents…

…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…

…complex scar related and genetic substrates. Furthermore, it critically examines the diagnostic algorithms for wide complex tachycardia (WCT), the acute management of both stable and…

…the difference in R wave amplitude, note the slurred terminal portion of the R wave in the high risk morphology, which replaces the sharp negative…

…heart failure and alcohol related cardiomyopathy. The cardiovascular implications of lower alcohol intake remain controversial. Epidemiological studies have often described a J shaped association between…

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

…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…

…the result of a perfect storm scenario , where ischemia, hemodynamics, the autonomous nervous system, electrolyte concentrations, and other factors (potentially also genetic predisposition) interact to…

…and arrhythmias caused by digoxin were discussed previously. Below follows a rather detailed declaration of ECG changes, arrhythmias and conduction defects that occur due to…

…common genetic cause, followed by mutations in LMNA , MYH7 , and TNNT2 [39] . Consequently, current guidelines recommend a 3 generation family history and consideration of genetic…

…cytometry and genetics, while the biopsy shows marrow architecture and cellularity. What usually ruins the examination is not the technique but the handling of the…

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

…G enetic factors (e.g., CYP2C9 variants) (1 point) E xcessive fall risk (1 point) S troke (1 point) HEMORR₂HAGES Score Risk category Incidence of…

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

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