…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…