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…

…relevant in: individuals with premature atherosclerotic cardiovascular disease; patients with familial hypercholesterolaemia or very high LDL cholesterol; people with a family history of premature cardiovascular…

…or neoplastic etiologies. Other causes include immobilization, sarcoidosis, thyrotoxicosis, familial hypocalciuric hypercalcemia, Addison's disease, renal insufficiency, therapeutic interventions with tamoxifen or lithium, thiazide administration…

Echocardiography Methods for assessing systolic function (contractile function) Several echocardiographic measurements are available to assess left ventricular systolic function. These methods elucidate slightly different aspects…

…changes and clinical implications is provided. The reader should already be familiar with the classification of acute coronary syndromes. Subsequent chapters will deal with ST…

…coronary syndromes (myocardial infarction), women, elderly and revascularized individuals Clinicians should be familiar with the special challenges posed by some patient populations. The sensitivity, specificity…

…and third degree AV blocks. Readers already familiar with the basics of AV blocks can proceed directly to the subsequent chapters, which provide detailed discussions…

…infarction. Among all patients with acute myocardial infarction the prevalence of right and left bundle branch block on arrival ECG is 6% and 7%, respectively…

…equations, which are based on hemodynamic principles. It is fundamental to be familiar with these principles in order to fully understand echocardiography. In clinical practice…

…normal findings, normal variants, etc – from adult electrocardiograms. It is crucial to be familiar with normal findings, normal variants, and pathology in neonates, infants and…

…trend towards increased use of cardiac devices in general, it is crucial to be familiar with these devices. This section is devoted to artificial pacemakers…

…speed of sound, thus forming a sound wave. A familiar example is human speech. Humans speak by setting their vocal cords in motion. When vocal…

…resistant to resolution. Known predictors of cardiac arrest The only risk biomarker in genuinely widespread use is left ventricular ejection fraction (LVEF), measured by echocardiography…

…repolarization. Difference between relative and absolute risk Readers not familiar with the terms absolute and relative risk may be confused by the previous paragraph. The…

…presenting feature. The source material emphasizes that patients and families should be educated to recognize chest discomfort or dyspnoea as potentially indicating myocardial infarction, particularly…

…integrated decision pathway for physiology guided revascularization. Overview: Comparison of Physiological Indices The table below summarizes the four index families discussed in this review, mechanism…