Cardiology Genetic and miscellaneous conditions Definition and scope Familial and genetic screening in cardiovascular medicine is the systematic assessment of relatives and other individuals who…

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…

…an increased risk of sudden cardiac arrest. They identified five unrelated families with features that represent a previously unrecognized autosomal dominant syndrome (4). Figure 1 …

…therapy 18% Fixed dose combination with ezetimibe 38% Pooled analyses across different background therapies 17%–25% In patients with atherosclerotic vascular disease or familial hypercholesterolaemia…

…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…

…when additional LDL C reduction is required, including in patients with atherosclerotic cardiovascular disease (ASCVD) or heterozygous familial hypercholesterolaemia. The broader therapeutic principle is that…

…the rationale for therapeutic inhibition. Gain of function PCSK9 mutations are associated with familial hypercholesterolaemia (FH) and premature coronary heart disease, whereas loss of function…

…ectopic aldosterone production Familial forms include familial hyperaldosteronism type 1, formerly termed glucocorticoid remediable aldosteronism, and other familial forms associated with adrenal adenoma or bilateral…

…malignancies cause 90% of all cases of hypercalcemia. Less common causes are immobilization, sarcoidosis, thyrotoxicosis, familial hypocalciuric hypercalcemia, Addison's disease, renal failure, tamoxifen, lithium…

…die from acute myocardial infarction at 20 to 30 years of age. People with familial hypercholesterolemia have no other metabolic aberration, besides high LDL cholesterol…