SPC365

A Comprehensive Characterization of Familial Amyloid Polyneuropathy Patients with Pacemaker Implantation

Session: SESSÃO DE POSTERS 06 - AMILOIDOSE CARDÍACA
Speaker: Diana Ribeiro

Congress: CPC 2025
Topic: F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme: 17. Myocardial Disease
Subtheme: 17.2 Myocardial Disease – Epidemiology, Prognosis, Outcome
Session Type: Cartazes
FP Number: ---
Authors: Diana Ribeiro; André Alexandre; David Sá Couto; Mariana Pereira Santos; Pedro Monteiro; Tiago Peixoto; Sara Lopes Fernandes; Bruno Brochado; Hipólito Reis; Severo Torres

<p style="text-align:justify"><span style="font-size:14px"><span style="font-family:Times New Roman,Times,serif"><strong>Introduction</strong>:&nbsp;</span><span style="font-family:Arial,sans-serif"><span style="color:#000000"><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="background-color:white">Familial amyloid polyneuropathy (FAP) is an autosomal dominant disorder caused by transthyretin (TTR) gene mutations, typically ATTR Val30Met, leading to systemic amyloid deposition and multi-organ dysfunction. These patients often present with early neuropathy, </span>but cardiovascular manifestations are also common, particularly conduction disturbances. The aim of this study was to characterize FAP patients <span style="background-color:white">with a pacemaker, including disease stage at implantation and indications, and to evaluate treatment outcomes.</span></span></span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:14px"><span style="font-family:Arial,sans-serif"><span style="color:#000000"><strong><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="background-color:white">Methods</span></span></span></strong><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="background-color:white">:&nbsp;Retrospective analysis of </span>FAP patients with pacemaker implantation followed at a referral center in Portugal. Data was collected <span style="background-color:white">from clinical, electrocardiographic and echocardiographic records. Descriptive and inferential statistics were performed. </span></span></span></span></span></span></p>

<p style="text-align:justify"><span style="font-size:14px"><span style="font-family:Arial,sans-serif"><span style="color:#000000"><strong><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="background-color:white">Results</span></span></span></strong><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="color:black"><span style="background-color:white">: A total of 212 patients with FAP treated with a pacemaker were included (59.9% male, median age of 37 &plusmn; 14 years at the time of pacemaker implantation), during a mean follow-up period of 11 &plusmn; 6.5 years. 96.7% of the patients carried the ATTR Val30Met mutation and 67.9% underwent liver transplantation after a median disease duration of 4.0 &plusmn; 3.2 years. At baseline, 23.1% had hypertension, 2.8% diabetes mellitus, 11.8% dyslipidemia, and 35.8% were smokers (current or past). At the time of pacemaker implantation, 86.3% presented with polyneuropathy, mostly in Coutinho stage 1 (80.7%), 9.0% had cardiomyopathy, and 38.7% had some form of conduction disturbance. Regarding the indication for pacemaker, 69.3% underwent prophylactic implantation prior to liver transplantation, 7.1% was due to sinoatrial disease, and 23.6% due to atrioventricular block. During follow-up, 46.2% of the patients who underwent prophylactic implantation, progressed or developed conduction disturbances, with 21.2% becoming pacemaker-dependent after a median of 12 &plusmn; 6.3 years. Pacemaker complications included lead displacement (1.9%), over- and undersensing </span></span></span></span><span style="color:#000000"><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="background-color:white">(3.3%), and infections requiring extraction (2.8%). Death occurred in 36.8% of cases (median age of 53 &plusmn; 12.8 years).</span></span></span></span></span></p>

<p style="text-align:justify"><span style="color:#000000"><span style="font-size:14px"><span style="font-family:Arial,sans-serif"><strong><span style="font-family:&quot;Times New Roman&quot;,serif"><span style="background-color:white">Conclusions</span></span></strong><span style="background-color:white">: </span></span><span style="font-family:Times New Roman,Times,serif">In conclusion, most patients underwent pacemaker implantation at a young age and in the early stages of polyneuropathy (Coutinho stage 1), primarily as a prophylactic measure in the context of liver transplantation. Despite this approach, a significant proportion developed advanced conduction disturbances over time. Nevertheless, the rate of pacemaker-related complications remained low, highlighting the safety and feasibility of this strategy.</span></span></span></p>