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Familial and Genetic Screening in Premature Cardiovascular Disease

…example, heterozygous carriers in a clearly recessive cardiomyopathy may not require the same follow up as individuals at risk in an autosomal dominant family, whereas…

Brugada syndrome: ECG, clinical features and management

…the highest risk of experiencing malign ventricular arrhythmias. Brugada syndrome is hereditary with an autosomal dominant inheritance pattern, meaning that only one mutated gene is…

A Novel Familial Cardiac Arrhythmia Syndrome Identified Using ECG

…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 …

Arrhythmogenic Right Ventricular Cardiomyopathy / Dysplasia (ARVC, ARVD)

…the reason for which remains elusive. Gene mutations can be confirmed in roughly 60% of individuals with ARVC. Mutations in the desmosomal gene PKP2 is…

Brugada Syndrome: Diagnosis & SCD Prevention

…Brugada syndrome was classically defined as a monogenic, autosomal dominant channelopathy with incomplete penetrance and variable expressivity. The first and most critical genetic locus identified…

Dilated Cardiomyopathy (DCM): Definition, Types, Diagnostics & Treatment

…failure is common among these individuals. The majority of the mutations are inherited in an autosomal dominant manner with variable penetrance and expressivity. Autosomal recessive…

Cardiovascular Risk Assessment with SCORE2 and SCORE2-OP

…SCORE2 and SCORE2 OP are intended for apparently healthy people or for individuals with elevated BP who do not already have a condition conferring sufficiently…

Heart Failure with Reduced Ejection Fraction (HFrEF)

…million individuals worldwide. In developed nations, the prevalence of HF is approximately 1–2% in the general adult population, but this figure rises steeply with…

Hypertension: Causes, investigations, complications & treatment

…Ezzati et al, Lim et al ). Approximately 90–95% of individuals with hypertension have essential hypertension , also referred to as primary hypertension . Essential hypertension is…

🟠 Prasugrel (Effient, Efient, Prasita)

…of therapy : Premature discontinuation of antiplatelet therapy, including prasugrel, in ACS patients treated with PCI can increase the risk of thrombosis, myocardial infarction, or death…

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