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Familial and Genetic Screening in Premature Cardiovascular Disease

…Familial and genetic screening in cardiovascular medicine is the systematic assessment of relatives and other individuals who may carry an inherited predisposition to cardiovascular disease…

Familial Hypercholesterolaemia: Diagnosis, Cascade Screening and Treatment

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…

A Novel Familial Cardiac Arrhythmia Syndrome Identified Using ECG

…gene panels for known gene mutations for cardiovascular disease, were negative. Summary Bundgaard et al have presumably identified a novel familial (autosomal dominant) cardiac syndrome…

Bempedoic Acid: Evidence and Clinical Use

…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…

Cardiovascular Risk Assessment with SCORE2 and SCORE2-OP

…is applicable Moderate or severe chronic kidney disease (CKD) Hypertension mediated organ damage (HMOD) Probable or definite familial hypercholesterolaemia Other markedly abnormal single risk factors…

Inclisiran and Emerging Lipid-Lowering Agents

…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…

PCSK9 Inhibitors: Indications, Efficacy and Access

…PCSK9 mutations are associated with familial hypercholesterolaemia (FH) and premature coronary heart disease, whereas loss of function variants are associated with protection from cardiovascular disease…

Primary Aldosteronism: Screening and Management

…hyperplasia. A family history is therefore important, particularly in patients with early onset hypertension or premature cerebrovascular disease. PA is associated with cardiac hypertrophy, myocardial…

ECG changes due to electrolyte imbalance (disorder)

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

CME: How dietary fat affects coronary arteries, LDL cholesterol and body weight

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

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