The Use of Implantable Cardioverter-defibrillators in the Prevention of Sudden Cardiac Death: A Focus on Congenital Heart Disease and Inherited Arrhythmia Syndromes

Goldstein, S.; Ward, Cary; Al‐Khatib, Sana M.

doi:10.19102/icrm.2018.090103

Cited by 3 publications

(2 citation statements)

References 85 publications

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“…The high SCD risk observed in this proband allows the ICD implantation as the best treatment option based on genomic results and lack of treatment response (persistent VT and prolonged QTc). After ICD implantation, lifestyle changes, adequate serum K + levels maintenance, exercise restriction, and a reduction in auditory triggers were recommended ( Cho, 2016b ; Goldstein et al, 2017 ). Figure 2 presents a timeline with the episodes of care history.…”

Section: Case Presentationmentioning

confidence: 99%

Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report

Tamayo-Trujillo,

Ibarra-Castillo,

Laso-Bayas

et al. 2024

Front. Genet.

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IntroductionLong QT syndrome (LQTS) is an autosomal dominant inherited cardiac condition characterized by a QT interval prolongation and risk of sudden death. There are 17 subtypes of this syndrome associated with genetic variants in 11 genes. The second most common is type 2, caused by a mutation in the KCNH2 gene, which is part of the potassium channel and influences the final repolarization of the ventricular action potential. This case report presents an Ecuadorian teen with congenital Long QT Syndrome type 2 (OMIM ID: 613688), from a family without cardiac diseases or sudden cardiac death backgrounds.Case presentationA 14-year-old girl with syncope, normal echocardiogram, and an irregular electrocardiogram was diagnosed with LQTS. Moreover, by performing Next-Generation Sequencing, a pathogenic variant in the KCNH2 gene p.(Ala614Val) (ClinVar ID: VCV000029777.14) associated with LQTS type 2, and two variants of uncertain significance in the AKAP9 p.(Arg1654GlyfsTer23) (rs779447911), and TTN p. (Arg34653Cys) (ClinVar ID: VCV001475968.4) genes were identified. Furthermore, ancestry analysis showed a mainly Native American proportion.ConclusionBased on the genomic results, the patient was identified to have a high-risk profile, and an implantable cardioverter defibrillator was selected as the best treatment option, highlighting the importance of including both the clinical and genomics aspects for an integral diagnosis.

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Section: Case Presentationmentioning

confidence: 99%

Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report

Tamayo-Trujillo,

Ibarra-Castillo,

Laso-Bayas

et al. 2024

Front. Genet.

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“…Nevertheless, valid data on the prevalence of pregnant women with an ICD, wearable cardioverter defibrillator (WCD) or pacemaker are not available in the literature. In recent years, the number of patients carrying an ICD due to inherited or congenital cardiomyopathy has increased [ 3 ]. The main reasons for ICD implantations are structural heart diseases, including dilated cardiomyopathy (DCM) or hypertrophic cardiomyopathy (HCM), and inherited arrhythmogenic diseases such as long QT syndrome [ 2 ].…”

Section: Introductionmentioning

confidence: 99%

Management of Implantable Cardioverter-Defibrillators during Pregnancy—A Systematic Review

Topf

Bacher

Kopp

et al. 2021

JCM

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Background: With the advent of implantable cardioverter-defibrillator (ICD) technology in recent decades, patients with inherited or congenital cardiomyopathy have a greater chance of survival into adulthood. Women with ICDs in this group are now more likely to reach reproductive age. However, pregnancy represents a challenge for clinicians, as no guidelines for the treatment of pregnant women with an ICD are currently available. Methods: To analyze this issue, we performed a systematic screening of the literature using the keywords: pregnancy with ICD, lead fracture in pregnancy, lead thrombi in pregnancy, ventricular tachycardia in pregnancy, inappropriate shocks in pregnancy, ICD discharge in pregnancy and ICD shock in pregnancy. Of 1101 publications found, 27 publications were eligible for further analysis (four retrospective trials and 23 case reports). Results: According to physiological changes in pregnancy, resulting in an increase in heart rate and cardiac output, a vulnerability for malignant arrhythmias and device-related complications in ICD carriers might be suspected. While the literature is limited on this issue, maternal complications including arrhythmia burden with following ICD therapies, thromboembolic events and lead complications as well as inappropriate shock therapy have been reported. According to the limited available studies, associated risk seems not to be more frequent than in the general population and depends on the underlying cardiac pathology. Furthermore, worsening of heart failure and related cardiovascular disease have been reported with associated risk of preterm delivery. These observations are exaggerated by restricted applications of diagnostics and treatment due to the risk of fetal harm in this population. Conclusions: Due to limited data on management of ICDs during pregnancy, further scientific investigations are required. Consequently, careful risk assessment with individual risk evaluation and close follow ups with interdisciplinary treatment are recommended in pregnant ICD carriers.

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Single-cell transcriptomics trajectory and molecular convergence of clinically relevant mutations in Brugada syndrome

Tambi

Hameid

Bankapur

et al. 2021

American Journal of Physiology-Heart and Circulatory Physiology

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Brugada syndrome (BrS) is a rare, inherited arrhythmia with high risk of sudden cardiac death. To evaluate the molecular convergence of clinically relevant mutations and to identify developmental cardiac cell types that are associated with BrS etiology, we collected 733 mutations represented by 16 sodium, calcium, potassium channels, regulatory and structural genes related to BrS. Among the clinically relevant mutations, 266 are unique singletons and 88 mutations are recurrent. We observed an over representation of clinically relevant mutations (~80%) in SCN5A gene, and also identified several candidate genes, including GPD1L, TRPM4 and SCN10A. Furthermore, protein domain enrichment analysis revealed that a large proportion of the mutations impacted ion-transport domains in multiple genes, including SCN5A, TRPM4 and SCN10A. A comparative protein domain analysis of SCN5A further established a significant (p=0.04) enrichment of clinically relevant mutations within ion-transport domain, including a significant (p=0.02) mutation hotspot within 1321-1380 residue. The enrichment of clinically relevant mutations within SCN5A ion transport domain is stronger (p=0.00003) among early onset of BrS. Our spatiotemporal cellular heart developmental (prenatal to adult) trajectory analysis applying single cell transcriptome identified the most frequently BrS mutated genes (SCN5A and GPD1L) are significantly upregulated in the prenatal cardiomyocytes. A more restrictive cellular expression trajectory is prominent in the adult heart ventricular cardiomyocytes compared to prenatal. Our study suggests that genomic and proteomic hotspots in BrS converge into ion transport pathway and cardiomyocyte as a major BrS associated cell type that provides insight into the complex genetic etiology of BrS.

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The Use of Implantable Cardioverter-defibrillators in the Prevention of Sudden Cardiac Death: A Focus on Congenital Heart Disease and Inherited Arrhythmia Syndromes

Cited by 3 publications

References 85 publications

Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report

Identifying genomic variant associated with long QT syndrome type 2 in an ecuadorian mestizo individual: a case report

Management of Implantable Cardioverter-Defibrillators during Pregnancy—A Systematic Review

Single-cell transcriptomics trajectory and molecular convergence of clinically relevant mutations in Brugada syndrome

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