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Importance: Disease characteristics of genetically mediated coronary artery disease (CAD) on coronary angiography and the association of genomic risk with outcomes after coronary angiography are not well understood.

Objective: To assess the angiographic characteristics and risk of post-coronary angiography outcomes of patients with genomic drivers of CAD: familial hypercholesterolemia (FH), high polygenic risk score (PRS), and clonal hematopoiesis of indeterminate potential (CHIP).

Design, Setting, And Participants: A retrospective cohort study of 3518 Mass General Brigham Biobank participants with genomic information who underwent coronary angiography was conducted between July 18, 2000, and August 1, 2023.

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Background: Obsessive-compulsive disorder (OCD) is associated with an increased risk of morbidity and mortality due to cardiometabolic disorders. Whether this association is driven by familial factors is unknown. This population-based family study explored the familial co-aggregation of OCD and cardiometabolic disorders.

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Application of the 6-SNP elevated LDL-cholesterol polygenic risk score in individuals with familial hypercholesterolemia phenotype from an Argentine population.

Gac Med Mex

January 2025

Universidad de Buenos Aires, Facultad de Farmacia y Bioquímica, Departamento de Bioquímica Clínica, Laboratorio de Lípidos y Aterosclerosis, Ciudad Autónoma de Buenos Aires.

Introduction: LDL-cholesterol greater than 190 mg/dL indicates severe hypercholesterolemia (HS) of monogenic and/or polygenic origin. Genetic risk scores (GRS) evaluate potential polygenic causes.

Objective: we applied a GRS of 6-SNP (GRS-6) in HS individuals.

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Our case report characterizes a rare presentation of mid-ventricular Takotsubo cardiomyopathy (TTC) in a patient with suspected myocarditis as an underlying cause. Mid-ventricular TTC is a rare variant of TTC presenting with overlapping symptoms and physical exam findings of acute coronary syndrome, which often leads to misdiagnosis as myocardial infarction. Our case is of a 77-year-old female patient with a history of hyperlipidemia, right breast ductal carcinoma in situ, and diverticular disease who presented to the emergency department for evaluation of chest pain radiating to the jaw with associated nausea and vomiting.

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Objectives: Aneurysmal subarachnoid haemorrhage (ASAH) is a severe stroke type, preventable by screening for intracranial aneurysms followed by treatment in high-risk individuals. We aimed to develop and validate a risk prediction model for ASAH in the general population to identify high-risk individuals.

Design: We used the population-based prospective cohort studies of the United Kingdom (UK) Biobank for model development and the Trøndelag Health (HUNT) Study for model validation.

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