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 …

2024 heart disease and stroke statistics: a report of US and global data from the American Heart Association

SS Martin, AW Aday, ZI Almarzooq, CAM Anderson… - Circulation, 2024 - Am Heart Assoc
BACKGROUND: The American Heart Association (AHA), in conjunction with the National
Institutes of Health, annually reports the most up-to-date statistics related to heart disease …

Precise genomic editing of pathogenic mutations in RBM20 rescues dilated cardiomyopathy

T Nishiyama, Y Zhang, M Cui, H Li… - Science translational …, 2022 - science.org
Mutations in RNA binding motif protein 20 (RBM20) are a common cause of familial dilated
cardiomyopathy (DCM). Many RBM20 mutations cluster within an arginine/serine-rich (RS …

ACMG SF v3. 1 list for reporting of secondary findings in clinical exome and genome sequencing: A policy statement of the American College of Medical Genetics and …

DT Miller, K Lee, NS Abul-Husn, LM Amendola… - Genetics in …, 2022 - Elsevier
ACMG SF v3.1 list for reporting of secondary findings in clinical exome and genome
sequencing: A policy statement of the American College of Medical Genetics and Genomics …

Genetic architecture of acute myocarditis and the overlap with inherited cardiomyopathy

AS Lota, MR Hazebroek, P Theotokis, R Wassall… - Circulation, 2022 - Am Heart Assoc
Background: Acute myocarditis is an inflammatory condition that may herald the onset of
dilated cardiomyopathy (DCM) or arrhythmogenic cardiomyopathy (ACM). We investigated …

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 …

Dilated cardiomyopathy: causes, mechanisms, and current and future treatment approaches

S Heymans, NK Lakdawala, C Tschöpe, K Klingel - The Lancet, 2023 - thelancet.com
Dilated cardiomyopathy is conventionally defined as the presence of left ventricular or
biventricular dilatation or systolic dysfunction in the absence of abnormal loading conditions …

Genome-wide association studies of cardiovascular disease

R Walsh, SJ Jurgens, J Erdmann… - Physiological …, 2023 - journals.physiology.org
Genome-wide association studies (GWAS) aim to identify common genetic variants that are
associated with traits and diseases. Since 2005, more than 5,000 GWAS have been …

Mislocalization of pathogenic RBM20 variants in dilated cardiomyopathy is caused by loss-of-interaction with Transportin-3

J Kornienko, M Rodríguez-Martínez, K Fenzl… - Nature …, 2023 - nature.com
Severe forms of dilated cardiomyopathy (DCM) are associated with point mutations in the
alternative splicing regulator RBM20 that are frequently located in the arginine/serine-rich …