Rare genetic variants in young adults requiring pacemaker implantation

JP Ochoa, MÁ Espinosa, J Gayan-Ordas… - Clinical …, 2024 - jacc.org
Background Genetic disease has recently emerged as a cause of cardiac conduction
disorders (CCDs), but the diagnostic yield of genetic testing and the contribution of the …

[HTML][HTML] Cardiovascular Involvement in SYNE Variants: A Case Series and Narrative Review

F Ravera, V Dusi, PP Bocchino, G Gobello, G Giannino… - Cardiogenetics, 2025 - mdpi.com
Cardiac laminopathies encompass a wide range of diseases caused by defects in nuclear
envelope proteins, including cardiomyopathy, atrial and ventricular arrhythmias and …

Familial risk of sinus node dysfunction indicating pacemaker implantation: a nationwide cohort study

MK Christiansen, ET Parner, JB Johansen… - Europace, 2024 - academic.oup.com
Aims We aimed to investigate the risk of sinus node dysfunction (SND) indicating cardiac
pacing and mortality in first-degree relatives to patients with a pacemaker implanted on this …

High prevalence and distinctive clinical features of LMNA-associated atrioventricular block in young patients

X Chen, G Luo, H Li, J Zheng, Q Zhang, H Liao… - American Heart …, 2024 - Elsevier
Background and aims Atrioventricular block (AVB) is a degenerative disease and more
commonly encountered in elderly patients, but unusual and often of unknown etiology in …

Biallelic variants in POPDC2 cause a novel autosomal recessive syndrome presenting with cardiac conduction defects and variable hypertrophic cardiomyopathy

M Nicastro, AMC Vermeer, PG Postema, R Tadros… - medRxiv, 2024 - medrxiv.org
ABSTRACT POPDC2 encodes for the Popeye domain-containing protein 2 which has an
important role in cardiac pacemaking and conduction, due in part to its cAMP-dependent …

The Heart Block Hat‐Trick: A Case of Alternating First‐, Second‐, and Third‐Degree Heart Blocks

N Huerta, S Malik, C Haas - Case Reports in Cardiology, 2023 - Wiley Online Library
Idiopathic third‐degree atrioventricular (AV) block in a relatively young patient is an
uncommon phenomenon. Even more rare is when the third‐degree heart block is alternating …