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…