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A Case of NAA10-related Syndrome With Prolonged QTc Treated With a Subcutaneous Implantable Cardioverter Defibrillator After Ventricular Fibrillation.

ABSTRACT: NAA10 is an enzyme involved in the N-terminal acetylation of proteins. NAA10-related syndrome is caused by a pathogenic variant of NAA10 on X chromosome, resulting in several phenotypes, including mental retardation, hypotonia, growth retardation, and various external malformations, with varying degrees of severity. With regard to cardiac diseases, hypertrophic cardiomyopathy is a possible complication. Some mutations are also associated with long QT syndrome. Herein, we describe the case of a 7-year-old boy with a novel NAA10 mutation who experienced cardiopulmonary arrest possibly due to long QT syndrome and was implanted with a subcutaneous implantable cardioverter defibrillator.

SUBMITTER: Mizuno Y

PROVIDER: S-EPMC10642139 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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A Case of NAA10-related Syndrome With Prolonged QTc Treated With a Subcutaneous Implantable Cardioverter Defibrillator After Ventricular Fibrillation.

Mizuno Yuta Y Ichikawa Yasuhiro Y Kawai Shun S Wakamiya Takuya T Murakami Hiroaki H Kurosawa Kenji K Ueda Hideaki H

CJC pediatric and congenital heart disease 20221007 6

NAA10 is an enzyme involved in the N-terminal acetylation of proteins. NAA10-related syndrome is caused by a pathogenic variant of NAA10 on X chromosome, resulting in several phenotypes, including mental retardation, hypotonia, growth retardation, and various external malformations, with varying degrees of severity. With regard to cardiac diseases, hypertrophic cardiomyopathy is a possible complication. Some mutations are also associated with long QT syndrome. Herein, we describe t ...[more]

PMID: 37969489

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Project description:BackgroundCompared with transvenous implantable cardioverter defibrillators (ICDs), subcutaneous (S)-ICDs require a higher energy for effective defibrillation. Although ventricular fibrillation conversion testing (CT) is recommended after S-ICD implantation to ensure an adequate margin between the defibrillation threshold and maximum device output (80J), prior work found that adherence to this recommendation is declining.MethodsWe studied first-time recipients of S-ICDs (between September 28, 2012, and April 1, 2016) in the National Cardiovascular Database Registry ICD Registry to determine predictors of use of CT, predictors of an insufficient safety margin (ISM, defined as ventricular fibrillation conversion energy >65J) during testing, and inhospital outcomes associated with use of CT. Multivariable logistic regression analysis was used to predict use of CT and ISM. Inverse probability weighted logistic regression analysis was used to examine the association between use of CT and inhospital adverse events including death.ResultsCT testing was performed in 70.7% (n=5624) of 7960 patients with S-ICDs. Although deferral of CT was associated with several patient characteristics (including increased body mass index, increased body surface area, severely reduced ejection fraction, dialysis dependence, warfarin use, anemia, and hypertrophic cardiomyopathy), the facility effect was comparatively more important (area under the curve for patient level versus generalized linear mixed model: 0.619 versus 0.877). An ISM occurred in 6.9% (n=336) of 4864 patients without a prior ICD and was more common among white patients and those with ventricular pacing on the preimplant ECG, higher preimplant blood pressure, larger body surface area, higher body mass index, and lower ejection fraction. A risk score was able to identify patients at low (<5%), medium (5% to 10%), and high risk (>10%) for ISM. CT testing was not associated with a composite of inhospital complications including death.ConclusionsUse of CT testing after S-ICD implantation was driven by facility preference to a greater extent than patient factors and was not associated with a composite of inhospital complications or death. ISM was relatively uncommon and is associated with several widely available patient characteristics. These data may inform ICD system selection and a targeted approach to CT.

Project description:Background Despite growing use of the subcutaneous implantable cardioverter-defibrillator (S- ICD ), its clinical role in arrhythmogenic right ventricular cardiomyopathy/dysplasia ( ARVC /D) patients remains undefined. We aim to elucidate the cardiac phenotype, implant characteristics, and long-term efficacy regarding appropriate therapy and complications in ARVC /D patients with an S- ICD implant. Methods and Results A transatlantic cohort of ARVC /D patients who underwent S- ICD implantation was analyzed for clinical characteristics, S- ICD therapy, and long-term outcome including device-related complications. The cohort included 29 patients (52% male, 76% probands, 59% with ARVC /D-associated mutation, 59% primary prevention [no prior sustained ventricular arrhythmias], and 45% first-generation S- ICD devices). At implant, all inducible patients (27/29) had conversion of induced ventricular fibrillation. Two patients (7%) had superficial infections of the incision site that were treated conservatively. Over a median follow-up of 3.16 years (interquartile range: 2.21-4.51 years), all episodes (6 patients, 4% per year) of sustained ventricular arrhythmias were appropriately detected and treated. Six patients (21%) experienced 39 inappropriate shocks, with 3 requiring device explantation. Oversensing of noncardiac signal (n=4; especially myopotentials) and cardiac signal (n=4) was the most frequent etiology. No lead or device dislodgement, infection, skin erosion, or explantation related to need for antitachycardia pacing was noted. Conclusions S- ICD can effectively treat both induced and spontaneous ventricular arrhythmias in patients with ARVC /D. The rate of inappropriate shocks, although considerable, is comparable to that in ARVC /D patients treated with transvenous ICD s. When they occurred, inappropriate shocks were primarily due to cardiac and, uniquely, noncardiac oversensing. We suggest potential strategies for minimizing inappropriate therapy.

Dataset Information

A Case of NAA10-related Syndrome With Prolonged QTc Treated With a Subcutaneous Implantable Cardioverter Defibrillator After Ventricular Fibrillation.

Publications

A Case of <i>NAA10</i>-related Syndrome With Prolonged QTc Treated With a Subcutaneous Implantable Cardioverter Defibrillator After Ventricular Fibrillation.

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