Long-term follow-up of implantable cardioverter-defibrillators in Short QT syndrome

Roterberg

Liebe

et al. 2019

Clinical Cardiology

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Background Brugada syndrome (BrS) is associated with sudden cardiac death (SCD). Although implantable cardioverter‐defibrillator (ICD) implantation is recommended, the long‐term outcomes and follow‐up data with regard to ICD complications have led to controversy. Hypothesis In the present study, we described the data assimilated in a total of 11 studies, analyzing the outcome in 747 BrS patients receiving ICD. Methods Data were performed and analyzed after a systematic review of literature compiled from a thorough database search (PubMed, Web of Science, Cochrane Library, and Cinahl). Results The mean age of patients receiving ICD was (43.1 ± 13.4, 82.5% males, 46.6% spontaneous BrS type I). Around 15.3% of the patients were admitted due to SCD and 10.4% suffered from atrial arrhythmia. Appropriate shocks were documented in 18.1% of the patients over a mean follow‐up period of 82.3 months (47.5‐110.4). The following complications were recorded: lead failure and fracture (5.4%), lead perforation (0.7%), lead dislodgement (1.7%), infection (3.9%), pain (0.4%), subclavian vein thrombosis (0.3%), pericardial effusion (0.1%), endocarditis (0.1%), psychiatric problems (1.5%), pneumothorax (0.7%). Inappropriate shocks were documented in 18.1% of the patients. The management of inappropriate shocks was achieved by pulmonary vein isolation (0.5%), drug treatment with sotalol (1.3%) or sotalol with beta‐blocker (0.3%) and hydroquinidine (0.1%). Conclusions ICD therapy in BrS is associated with relevant ICD‐related complications including a substantial risk of inappropriate shocks more frequently in symptomatic BrS patients.

Section: Discussionmentioning

confidence: 99%

Section: Management Of Complicationsmentioning

confidence: 99%

Implantable cardioverter‐defibrillator in Brugada syndrome: Long‐term follow‐up

Roterberg

Liebe

et al. 2019

Clinical Cardiology

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“… 1 , 2 Implantable cardioverter‐defibrillator therapy is associated with numerous complications. 3 Therefore, drug therapy is important to optimize the treatment of SQTS patients. Recently published data have reported that hydroquinidine is effective in prolonging the QTc interval in SQTS patients.…”

Section: Figurementioning

confidence: 99%

Deciphering the pathogenic role of a variant with uncertain significance for short QT and Brugada syndromes using gene‐edited human‐induced pluripotent stem cell‐derived cardiomyocytes and preclinical drug screening

Clinical & Translational Med

Liu

Cyganek

et al. 2021

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Dear Editor,In the present study, we show that the Calcium Voltage-Gated Channel Auxiliary Subunit Beta 2 (CACNB2) variant c.1439C>T/p.S480L is linked to the clinical phenotype of short QT syndrome 5 (SQTS5) overlapped with Brugada syndrome (BrS). The PI3K pathway may contribute to the arrhythmogenesis of the disease. PI3K-activator and amiodarone but not sotalol may be effective drugs for treating arrhythmias in SQTS5-patients carrying but not limited to this variant.The SQTS is characterized by a shortening of the corrected QT (QTc) interval, which has been linked to sudden cardiac death. 1,2 Implantable cardioverter-defibrillator therapy is associated with numerous complications. 3 Therefore, drug therapy is important to optimize the treatment of SQTS patients. Recently published data have reported that hydroquinidine is effective in prolonging the QTc interval in SQTS patients. Notably, data have shown that hydroquinidine might exert different effects depending on the genetic variant and/or SQTS form. 4,5 Based on the limited evidence of the clear role of variants in calcium channel subunits in SQTS and the absence of alternative therapies in this rare cohort, 6 we aimed to use cardiomyocytes from induced pluripotent stem cells (hiPSC-CMs) derived from a SQTS5-patient overlapped with BrS carrying a variant in CACNB2 to study the significance of the variant for the clinical phenotype by combining gene editing and electrophysiological analysis in order to identify possible effective drugs for the disease. HiPSC-CMs offered advantages over other models to model channelopathies in the dish. 7,8 For this study, human iPSC lines from one SQTS patient, from two healthy donors, and two Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR)/Cas9 gene-edited hiPSC lines were used (Figure S1A,B). TheThis is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

“…On the other hand, a recently published study has shown that the implantations of ICD are associated with a higher risk of device-related complications. Therefore, an indication should be evaluated by a referral centre with good experience in SQTS (El-Battrawy et al, 2019). In addition, recently published data have shown that hydroquinidine prevent arrhythmias (Giustetto et al, 2011;Mazzanti et al, 2017).…”

Section: Introductionmentioning

confidence: 99%

Differences in Short QT Syndrome Subtypes: A Systematic Literature Review and Pooled Analysis

Schlentrich

et al. 2020

Front. Genet.

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Background: Short QT syndrome (SQTS) is a rare syndrome and affects different types of genes. However, data on differences of clinical profile and outcome of different SQTS types are sparse. Methods: We conducted a pooled analysis of 110 SQTS patients. Patients have been diagnosed between 2000 and 2017 at our institution (n = 12) and revealed using a literature review (n = 98). 29 studies were identified by analysing systematic data bases (PubMed, Web of Science, Cochrane Libary, Cinahl). Results: 67 patients with genotype positive SQTS origin and 43 patients with genotype negative origin were found. A significant difference is documented between the sex with a higher predominance of male in genotype negative SQTS patients and predominance of females in genotype positive SQTS patients (male 52% versus 84%, female 45% versus 14%; p = 0.0016). No relevant difference of their median age (genotype positive 27 ± 19 versus genotype negative 29 ± 15; p = 0.48) was found. Asymptomatic patients and patients reporting symptoms such as syncope, sudden cardiac death, atrial flutter and ventricular fibrillation documented in both groups were similar except atrial fibrillation (genotype positive 19% versus genotype negative 0%; p = 0.0055). The QTc interval was not significantly different in both groups (genotype positive 315 ± 32 versus genotype negative 320 ± 19; p = 0.30). The treatments (medical treatment and ICD implantation) in both groups were comparable. Electrophysiology studies were not significantly higher documented in patients with genotype positive and negative origin (24% versus 9%; p = 0.075). Events at follow up such as VT, VF, and SCD were not higher presented in patients with genotype positive (13% versus 9%) (p = 0.25). 54% of genotype positive SQTS patients showed SQTS 1 followed by STQS 2 (21%) and SQTS 3 (10%). Conclusions: The long-term risk of a malignant arrhythmic event is not higher in patients with genotype positive. However, patients with genotype positive present themselves more often with AF with a female predominance. Also, other events at follow up such as syncope, atrial flutter and palpitation were not significantly higher (9% versus 0%; p = 0.079).