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Familial and Genetic Screening in Premature Cardiovascular Disease

…disease. It combines a structured family history, clinical evaluation, cardiac investigations, genetic counselling and, where appropriate, molecular testing. The approach is particularly relevant to cardiomyopathies…

Cardiac amyloidosis

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…

Coronary Anomalies and Myocardial Bridging

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…

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…

ECG J wave syndromes: hypothermia, early repolarization, hypercalcemia & Brugada syndrome

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…

Eletrical alternans: the ECG in pericardial effusion & cardiac tamponade

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…

Pericarditis, myocarditis & perimyocarditis: ECG, criteria & treatment

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…

Takotsubo cardiomyopathy (broken heart syndrome, stress induced cardiomyopathy)

ECG Genetic and miscellaneous conditions Takotsubo cardiomyopathy (broken heart syndrome, apical ballooning syndrome, stress induced cardiomyopathy) Takotsubo cardiomyopathy (broken heart syndrome) is a rather peculiar…

Brugada syndrome: ECG, clinical features and management

Arrhythmias and arrhythmology ECG Genetic and miscellaneous conditions Brugada syndrome: A life threatening arrhythmia with unknown prevalence Pedro Brugada and his two brothers, Josep and…

Early repolarization pattern on ECG (early repolarization syndrome)

Arrhythmias and arrhythmology ECG Genetic and miscellaneous conditions The early repolarization pattern and syndrome: from ECG criteria to management Although the early repolarization pattern has…

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