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Early-onset atrial fibrillation (AF) can be the manifestation of a genetic atrial myopathy. However, specific genetic identification of a mutation causing atrial fibrosis is rare. We report a case of a young patient with an asymptomatic AF, diagnosed during a routine examination. The cardiac MRI revealed extensive atrial fibrosis and the electrophysiology study showed extensive areas of low voltage. The genetic investigation identified a homozygous pathogenic variant in the NPPA gene in the index case and the presence of the variant in heterozygosity in both parents. publishersversion published

Funding Information: JH was supported by the “Netherlands Organization for Scientific Research NWO/ZonMWVidi 09150171910029”. PC, SL, and MO have not received any funding. Publisher Copyright: Copyright © 2022 Cunha, Laranjo, Heijman and Oliveira. Atrial fibrillation (AF) is the most common sustained arrhythmia in the population and is associated with a significant clinical and economic burden. Rigorous assessment of the presence and degree of an atrial arrhythmic substrate is essential for determining treatment options, predicting long-term success after catheter ablation, and as a substrate critical in the pathophysiology of atrial thrombogenesis. Catheter ablation of AF has developed into an essential rhythm-control strategy. Nowadays is one of the most common cardiac ablation procedures performed worldwide, with its success inversely related to the extent of atrial structural disease. Although atrial substrate evaluation remains complex, several diagnostic resources allow for a more comprehensive assessment and quantification of the extent of left atrial structural remodeling and the presence of atrial fibrosis. In this review, we summarize the current knowledge on the pathophysiology, etiology, and electrophysiological aspects of atrial substrates promoting the development of AF. We also describe the risk factors for its development and how to diagnose its presence using imaging, electrocardiograms, and electroanatomic voltage mapping. Finally, we discuss recent data regarding fibrosis biomarkers that could help diagnose atrial fibrotic substrates. publishersversion published

© 2022 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/), Objective: This study aimed to assess whether atrial fibrillation (AF) occurrence or its corresponding daily mean burden (in minutes/day) during the mid to late blanking period after pulmonary vein isolation (PVI), predicts AF recurrence. Methods: Analysis of consecutive first PVI ablation patients undergoing prolonged electrocardiogram (ECG) monitoring during the second and third months after PVI. The clinical variables, total AF burden, and their relationship with time to recurrence were studied. Results: 477 patients with a mean age of 56.9 (SD = 12.3) years (63.7 % male; 71.7 % paroxysmal AF), from which 317 (66.5 %) had an external event recorder between 30 and 90 days after ablation. Median follow-up of 16.0 (P 25:12.0: P 75:33.0) months, 177 (37 %) patients had an AF recurrence, with 106 (22.2 %) having the first episode after 12 months of follow-up. In the group of patients with an event recorder, 80 (25.2 %) had AF documented during the blanking period. Multivariable analysis showed that AF during the blanking period was associated with a 4-fold higher risk of recurrence (HR: 3.98; 95 %CI: 2.95-5.37), and, compared to patients in sinus rhythm, those with an AF burden ≥ 23 min/day had an approximately 7-fold higher risk of recurrence (HR estimate: 6.79; 95 %CI: 4.56-10.10). Conclusions: The probability of experiencing AF recurrence can be predicted by atrial tachyarrhythmia episodes during the second and third months after PVI. Atrial arrhythmias burden > 23 min/day has a high predictive ability for recurrence.

Trabalho Final do Curso de Mestrado Integrado em Medicina, Faculdade de Medicina, Universidade de Lisboa, 2017 Submitted by Biblioteca da Faculdade de Medicina da Universidade de Lisboa (repositorio@medicina.ulisboa.pt) on 2018-05-08T13:33:07Z No. of bitstreams: 1 RafaelMira.pdf: 1110398 bytes, checksum: ba752110cce1697e01b06201120c5315 (MD5) Made available in DSpace on 2018-05-08T14:32:44Z (GMT). No. of bitstreams: 1 RafaelMira.pdf: 1110398 bytes, checksum: ba752110cce1697e01b06201120c5315 (MD5) Previous issue date: 2017