2022 ESC Guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death: Developed by the task force for the …

K Zeppenfeld, J Tfelt-Hansen, M De Riva… - European heart …, 2022 - academic.oup.com
4004 ESC Guidelines label use of medication should be limited to situations where it is in
the patient's interest to do so, with regard to the quality, safety, and efficacy of care, and only …

2023 ESC Guidelines for the management of cardiomyopathies: Developed by the task force on the management of cardiomyopathies of the European Society of …

E Arbelo, A Protonotarios, JR Gimeno… - European heart …, 2023 - academic.oup.com
• The specific situation of the patient. Unless otherwise provided for by national regulations,
off-label use of medication should be limited to situations where it is in the patient's interest …

Heart disease and stroke statistics—2023 update: a report from the American Heart Association

CW Tsao, AW Aday, ZI Almarzooq, CAM Anderson… - Circulation, 2023 - Am Heart Assoc
Background: The American Heart Association, in conjunction with the National Institutes of
Health, annually reports the most up-to-date statistics related to heart disease, stroke, and …

Polygenic risk scores for cardiovascular disease: a scientific statement from the American Heart Association

JW O'Sullivan, S Raghavan, C Marquez-Luna… - Circulation, 2022 - Am Heart Assoc
Cardiovascular disease is the leading contributor to years lost due to disability or premature
death among adults. Current efforts focus on risk prediction and risk factor mitigation ‚which …

From variant to function in human disease genetics

T Lappalainen, DG MacArthur - Science, 2021 - science.org
Over the next decade, the primary challenge in human genetics will be to understand the
biological mechanisms by which genetic variants influence phenotypes, including disease …

Incomplete penetrance and variable expressivity: from clinical studies to population cohorts

R Kingdom, CF Wright - Frontiers in Genetics, 2022 - frontiersin.org
The same genetic variant found in different individuals can cause a range of diverse
phenotypes, from no discernible clinical phenotype to severe disease, even among related …

European heart rhythm association (EHRA)/heart rhythm society (HRS)/Asia pacific heart rhythm society (APHRS)/latin American heart rhythm society (LAHRS) expert …

AAM Wilde, C Semsarian, MF Márquez, AS Shamloo… - Europace, 2022 - academic.oup.com
Purpose Genetic testing has advanced significantly since the publication of the 2011
HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the …

Minor hypertrophic cardiomyopathy genes, major insights into the genetics of cardiomyopathies

R Walsh, JA Offerhaus, R Tadros… - Nature Reviews …, 2022 - nature.com
Hypertrophic cardiomyopathy (HCM) was traditionally described as an autosomal dominant
Mendelian disease but is now increasingly recognized as having a complex genetic …

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

LR Lopes, S Garcia-Hernández… - European heart …, 2021 - academic.oup.com
Aims The aim of this study was to determine the frequency of heterozygous truncating
ALPK3 variants (ALPK3 tv) in patients with hypertrophic cardiomyopathy (HCM) and confirm …

Phenotypic expression and outcomes in individuals with rare genetic variants of hypertrophic cardiomyopathy

A de Marvao, KA McGurk, SL Zheng, M Thanaj… - Journal of the American …, 2021 - jacc.org
Background Hypertrophic cardiomyopathy (HCM) is caused by rare variants in sarcomere-
encoding genes, but little is known about the clinical significance of these variants in the …