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 …

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 …

Importance of genetic testing in unexplained cardiac arrest

S Grondin, B Davies, J Cadrin-Tourigny… - European Heart …, 2022 - academic.oup.com
Aims Genetic testing is recommended in specific inherited heart diseases but its role
remains unclear and it is not currently recommended in unexplained cardiac arrest (UCA) …

Concealed cardiomyopathy in autopsy-inconclusive cases of sudden cardiac death and implications for families

JC Isbister, N Nowak, L Yeates, ES Singer… - Journal of the American …, 2022 - jacc.org
Background Genetic testing following sudden cardiac death (SCD) is currently guided by
autopsy findings, despite the inherent challenges of autopsy examination and mounting …

[PDF][PDF] From gene-discovery to gene-tailored clinical management: 25 years of research in channelopathies and cardiomyopathies

L Crotti, P Brugada, H Calkins, P Chevalier, G Conte… - Europace, 2023 - academic.oup.com
In the early nineties, few years before the birth of Europace, the clinical and scientific world
of familial arrhythmogenic conditions was revolutionized by the identification of the first …

Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

E Martínez-Barrios, S Grassi, M Brión, R Toro… - Frontiers in …, 2023 - frontiersin.org
In the forensic medicine field, molecular autopsy is the post-mortem genetic analysis
performed to attempt to unravel the cause of decease in cases remaining unexplained after …

Exome sequencing highlights a potential role for concealed cardiomyopathies in youthful sudden cardiac death

R Neves, DJ Tester, MA Simpson, ER Behr… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: Sudden cardiac arrest (SCA) and sudden unexplained death (SUD) are feared
sequelae of many genetic heart diseases. In rare circumstances, pathogenic variants in …

Mutation update for the ACTN2 gene

J Ranta‐aho, M Olive, M Vandroux, G Roticiani… - Human …, 2022 - Wiley Online Library
Abstract ACTN2 encodes alpha‐actinin‐2, a protein expressed in human cardiac and
skeletal muscle. The protein, located in the sarcomere Z‐disk, functions as a link between …

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort

E Martinez-Barrios, G Sarquella-Brugada… - International journal of …, 2023 - Springer
Sudden death cases in the young population remain without a conclusive cause of decease
in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected …

Genetics and genomics of arrhythmic risk: Current and future strategies to prevent sudden cardiac death

C Scrocco, CR Bezzina, MJ Ackerman… - Nature Reviews …, 2021 - nature.com
A genetic risk of sudden cardiac arrest and sudden death due to an arrhythmic cause,
known as sudden cardiac death (SCD), has become apparent from epidemiological studies …