Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.23996
Abstract: As comprehensive sequencing technologies gain widespread use, questions about so‐called secondary findings (SF) require urgent consideration. The American College of Medical Genetics and Genomics has recommended to report SF in 59 genes (ACMG SF v2.0)… read more here.
Keywords: arrhythmia syndromes; secondary findings; critical assessment; primary arrhythmia ... See more keywords
The evolution of gene‐guided management of inherited arrhythmia syndromes: Peering beyond monogenic paradigms towards comprehensive genomic risk scores
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Cardiovascular Electrophysiology"
DOI: 10.1111/jce.14415
Abstract: Inherited arrhythmia syndromes have traditionally been viewed as monogenic forms of disease whose pathophysiology is driven by a single highly penetrant rare genetic variant. Although an accurate depiction of a proportion of genetic variants, the… read more here.
Keywords: arrhythmia syndromes; risk; inherited arrhythmia; monogenic paradigms ... See more keywords
Cardiogenetics: the role of genetic testing for inherited arrhythmia syndromes and sudden death
Sign Up to like & getrecommendations! Published in 2022 at "Heart"
DOI: 10.1136/heartjnl-2021-320015
Abstract: There have been remarkable advances in our knowledge of the underlying heritability of cardiac arrhythmias. Long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, progressive cardiac conduction disease and the short QT syndrome comprise the… read more here.
Keywords: role; arrhythmia syndromes; genetic testing; inherited arrhythmia ... See more keywords
Sex-related differences in incidence, phenotype and risk of sudden cardiac death in inherited arrhythmia syndromes
Sign Up to like & getrecommendations! Published in 2023 at "Frontiers in Cardiovascular Medicine"
DOI: 10.3389/fcvm.2022.1010748
Abstract: Inherited Arrhythmia Syndromes (IAS) including long QT and Brugada Syndrome, are characterized by life-threatening arrhythmias in the absence of apparent structural heart disease and are caused by pathogenic variants in genes encoding cardiac ion channels… read more here.
Keywords: arrhythmia syndromes; disease; inherited arrhythmia; sex ... See more keywords
Calcium Handling Defects and Cardiac Arrhythmia Syndromes
Sign Up to like & getrecommendations! Published in 2020 at "Frontiers in Pharmacology"
DOI: 10.3389/fphar.2020.00072
Abstract: Calcium ions (Ca2+) play a major role in the cardiac excitation-contraction coupling. Intracellular Ca2+ concentration increases during systole and falls in diastole thereby determining cardiac contraction and relaxation. Normal cardiac function also requires perfect organization… read more here.
Keywords: handling defects; arrhythmia syndromes; calcium handling; physiology ... See more keywords