Inherited cardiac arrhythmias

PJ Schwartz, MJ Ackerman, C Antzelevitch… - Nature reviews Disease …, 2020 - nature.com
The main inherited cardiac arrhythmias are long QT syndrome, short QT syndrome,
catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. These rare …

Molecular mechanisms of arrhythmogenic cardiomyopathy

KM Austin, MA Trembley, SF Chandler… - Nature Reviews …, 2019 - nature.com
Arrhythmogenic cardiomyopathy is a genetic disorder characterized by the risk of life-
threatening arrhythmias, myocardial dysfunction and fibrofatty replacement of myocardial …

2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy

JA Towbin, WJ McKenna, DJ Abrams, MJ Ackerman… - Heart rhythm, 2019 - Elsevier
Arrhythmogenic cardiomyopathy (ACM) is an arrhythmogenic disorder of the myocardium
not secondary to ischemic, hypertensive, or valvular heart disease. ACM incorporates a …

Pericardial Delivery of SDF‐1α Puerarin Hydrogel Promotes Heart Repair and Electrical Coupling

L Luo, Y Li, Z Bao, D Zhu, G Chen, W Li… - Advanced …, 2024 - Wiley Online Library
The stromal‐derived factor 1α/chemokine receptor 4 (SDF‐1α/CXCR4) axis contributes to
myocardial protection after myocardial infarction (MI) by recruiting endogenous stem cells …

The intercalated disc: a unique organelle for electromechanical synchrony in cardiomyocytes

MS Nielsen, CJM van Opbergen… - Physiological …, 2023 - journals.physiology.org
The intercalated disc (ID) is a highly specialized structure that connects cardiomyocytes via
mechanical and electrical junctions. Although described in some detail by light microscopy …

Beyond the one gene–one disease paradigm: complex genetics and pleiotropy in inheritable cardiac disorders

M Cerrone, CA Remme, R Tadros, CR Bezzina… - Circulation, 2019 - Am Heart Assoc
Inheritable cardiac disorders, which may be associated with cardiomyopathic changes, are
often associated with increased risk of sudden death in the young. Early linkage analysis …

Prognostic value of magnetic resonance phenotype in patients with arrhythmogenic right ventricular cardiomyopathy

GD Aquaro, A De Luca, C Cappelletto… - Journal of the American …, 2020 - jacc.org
Background Cardiac magnetic resonance (CMR) is widely used to assess tissue and
functional abnormalities in arrhythmogenic right ventricular cardiomyopathy (ARVC) …

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) …

Arrhythmias as presentation of genetic cardiomyopathy

J Lukas Laws, MC Lancaster… - Circulation …, 2022 - Am Heart Assoc
There is increasing evidence regarding the prevalence of genetic cardiomyopathies, for
which arrhythmias may be the first presentation. Ventricular and atrial arrhythmias …

Desmosomal protein degradation as an underlying cause of arrhythmogenic cardiomyopathy

H Tsui, SJ van Kampen, SJ Han, V Meraviglia… - Science translational …, 2023 - science.org
Arrhythmogenic cardiomyopathy (ACM) is an inherited progressive cardiac disease. Many
patients with ACM harbor mutations in desmosomal genes, predominantly in plakophilin-2 …