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Long QT syndrome – experience from a Portuguese center
Session:
CO 16 - Morte Súbita
Speaker:
Mafalda Carrington
Congress:
CPC 2021
Topic:
C. Arrhythmias and Device Therapy
Theme:
08. Ventricular Arrhythmias and Sudden Cardiac Death (SCD)
Subtheme:
08.2 Ventricular Arrhythmias and SCD - Epidemiology, Prognosis, Outcome
Session Type:
Comunicações Orais
FP Number:
---
Authors:
Mafalda Carrington; Tiago Rodrigues; Pedro Silvério António; Afonso Nunes-Ferreira; Rita Rocha; Nelson Cunha; Sara Couto Pereira; Pedro Morais; Luís Carpinteiro; Nuno Cortez-Dias; Fausto j Pinto; João de Sousa
Abstract
<p style="text-align:justify"><span style="font-size:12pt"><strong><span style="color:black">Introduction:</span></strong><span style="color:black"> Congenital long QT syndrome (LQTS) is a hereditary disease characterized by prolonged QTc interval and risk of ventricular tachycardia (VT), which may lead to syncope, cardiac arrest, or sudden cardiac death (SCD) in young people.</span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><strong><span style="color:black">Purpose:</span></strong><span style="color:black"> To report the experience and the incidence of significant arrythmias in patients with congenital LQTS in an inherited primary arrhythmic syndrome center from a Portuguese tertiary hospital.</span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><strong><span style="color:black">Methods:</span></strong><span style="color:black"> Consecutive patients with LQTS were prospectively recruited from 1997 to 2021. Clinical data and 12-lead ECG were registered. Genetic screening was performed using DNA targeted sequencing for a panel which included KCNQ1 (LQTS 1), KCNH2 (LQTS 2), SCN5A (LQTS 3) and KCNE1 (LQTS 5). During follow-up, we registered significant clinical events such as SCD, as well as symptomatic and asymptomatic arrhythmic events.</span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><strong><span style="color:black">Results:</span></strong><span style="color:black"> We enrolled a total of 15 patients affected by LQTS, among which there were 9 (67%) index-cases, 9 (60%) were females and the mean age at diagnosis was 44±16 years-old. In this cohort, we only found an associated congenital abnormality in 1 patient who had Andersen-Tawil syndrome (ATS) with periodic paralysis. The Schwartz score indicated high probability of clinical diagnosis (</span><span style="color:black">≥</span><span style="color:black">3.5) in 12 patients, intermediate probability in 1 (1.5-3) and low probability in 2 (</span><span style="color:black">≤</span><span style="color:black">1). Regarding ECG abnormalities, 11 (73%) patients had a QT</span><span style="color:black">≥</span><span style="color:black">480 milliseconds, and only 3 had notched T wave in 3 leads at diagnosis. Nine (60%) patients were symptomatic at diagnosis, among whom 7 (47) had a history of previous syncope (only 2 with stress) and 5 (33%) presented with torsade de pointes and/or aborted SCD. A family history of unexplained SCD below 30 years-old and/or definite LQTS was found in 9 (60%) of them. </span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="color:black">Genetic screening was performed in 14 (93%), of whom 11 (79%) had a disease-causing mutation in KCNH2 and the patient with ATS had a mutation in KCNJ2 (LQTS 7). In the remaining 2 patients we found no mutations in the 4 sequenced genes. </span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="color:black">During a median follow-up of 4 [3.5-12.7] years, all patients had a beta-blocker prescribed and 6 (40%) received an implantable cardiac defibrillator (ICD), 2 due to aborted SCD at diagnosis and the other 4 for syncope recurrence, documented VT and/or QTc>500ms despite beta-blocker therapy. During follow-up, arrhythmic events were present in 6 (40%) patients (Table 1), including one SCD. The incidence rate of significant arrhythmic events was 0.06%/year.</span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><strong><span style="color:black">Conclusion:</span></strong><span style="color:black"> The KCNH2 was the most prevalent mutation in this Portuguese cohort. Care of congenital LQTS patients in an inherited primary arrhythmic syndrome center was associated with a low incidence of significant clinical events (0.06%/year).</span></span></p>
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