2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: Developed by the Task Force for the diagnosis and treatment of acute and …

TA McDonagh, M Metra, M Adamo… - European heart …, 2021 - academic.oup.com
The aim of this ESC Guideline is to help health professionals manage people with heart
failure (HF) according to the best available evidence. Fortunately, we now have a wealth of …

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 …

2021 ESC Guidelines for the diagnosis and treatment of acute and chronic heart failure: Developed by the Task Force for the diagnosis and treatment of acute and …

Authors/Task Force Members:… - European journal of …, 2022 - Wiley Online Library
Abstract Document Reviewers: Rudolf A. de Boer (CPG Review Coordinator)(Netherlands),
P. Christian Schulze (CPG Review Coordinator)(Germany), Magdy Abdelhamid (Egypt) …

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

R Tadros, C Francis, X Xu, AMC Vermeer, AR Harper… - Nature …, 2021 - nature.com
The heart muscle diseases hypertrophic (HCM) and dilated (DCM) cardiomyopathies are
leading causes of sudden death and heart failure in young, otherwise healthy, individuals …

Desmoplakin cardiomyopathy, a fibrotic and inflammatory form of cardiomyopathy distinct from typical dilated or arrhythmogenic right ventricular cardiomyopathy

ED Smith, NK Lakdawala, N Papoutsidakis, G Aubert… - Circulation, 2020 - Am Heart Assoc
Background: Mutations in desmoplakin (DSP), the primary force transducer between cardiac
desmosomes and intermediate filaments, cause an arrhythmogenic form of cardiomyopathy …

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

J Barc, R Tadros, C Glinge, DY Chiang, M Jouni… - Nature …, 2022 - nature.com
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in
young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1. 5 …

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 …

Reevaluating the genetic contribution of monogenic dilated cardiomyopathy

F Mazzarotto, U Tayal, RJ Buchan, W Midwinter… - Circulation, 2020 - Am Heart Assoc
Background: Dilated cardiomyopathy (DCM) is genetically heterogeneous, with> 100
purported disease genes tested in clinical laboratories. However, many genes were …

Overview of specifications to the ACMG/AMP variant interpretation guidelines

SM Harrison, LG Biesecker… - Current protocols in …, 2019 - Wiley Online Library
The 2015 ACMG/AMP guidelines established a classification system for sequence variants;
however, the broad scope of these guidelines necessitates specification of evidence types …

A mutation update for the FLNC gene in myopathies and cardiomyopathies

JAJ Verdonschot, EK Vanhoutte, GRF Claes… - Human …, 2020 - Wiley Online Library
Filamin C (FLNC) variants are associated with cardiac and muscular phenotypes. Originally,
FLNC variants were described in myofibrillar myopathy (MFM) patients. Later, high …