Genetic Clues on Implantable Cardioverter-Defibrillator Placement in Young-Age Hypertrophic Cardiomyopathy: A Case Report of Novel MYH7 Mutation and Literature Review

Background: Hypertrophic cardiomyopathy (HCM) is the second most common cardiomyopathy in childhood with a life-threatening risk. Implantable cardioverter-defibrillator (ICD) placement is recommended for early prevention if there are two or more clinical risk factors. Pediatric patients with HCM are at a higher risk of sudden cardiac death (SCD), but there are limited reports on indications for ICD implantation in children. Herein we describe the case of Myh7 mutation-induced HCM and cardiac arrest in a patient and evaluated information originating from genetic background to guide ICD administration.Case Presentation: The patient was a girl aged 7 years and 8 months who had been diagnosed with cardiomyopathy in utero 8 years prior. She had had recurrent cardiac arrests within the last 4 years. Electrocardiography indicated abnormalities in conduction, and ST segment changes. Echocardiography indicated significant left ventricular hypertrophy and hypertrophic systolic interventricular septum. Cardiac magnetic resonance imaging depicted general heart enlargement with hypertrophy, and delayed enhancement in myocardium with perfusion defect was also evident. Whole exon sequencing identified a de novo c.2723T>C (p.L908P) heterozygous mutation in the MYH7 gene. MYH7 p.L908P predicted unstable protein structure and impaired function. The patient was scheduled for ICD implantation. There were no complications after ICD implantation, and she was discharged from hospital on the 10th day. Regular oral beta-blockers, amiodarone, spironolactone, and enalapril were administered, and she was required to attend hospital regularly for follow-up. During follow-up there were no cardiac arrests. Literature review of clinical prognoses associated with genetic mutations of MYH7, MYBPC3, TNNI3, TNNT2, and TPM1 in pediatric HCM patients with and without ICD implantation indicated that they were totally differently. Previous reports also indicated that gene mutations predicted earlier onset of cardiac hypertrophy, and increase likelihood of SCD.Conclusion: Variant burden and variant type contribute to the risk of adverse events in pediatric HCM. Early recognition and intervention are vital in children. Gene mutation could be considered an indication for early ICD placement during standard risk stratification of HCM patients. Whether this extends to the majority of pediatric patients requires further investigation.

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Cardioverter-related complications: observations from an institutional implantable cardioverter defibrillator registry

EP Europace ◽

10.1093/europace/euab116.478 ◽

2021 ◽

Vol 23 (Supplement_3) ◽

Author(s):

I Prepolec ◽

V Pasara ◽

E Ciglenecki ◽

J Putric Posavec ◽

JE Bogdanic ◽

...

Keyword(s):

Antibiotic Prophylaxis ◽

Implantable Cardioverter Defibrillator ◽

Needle Aspiration ◽

Left Ventricular ◽

Icd Implantation ◽

Cardioverter Defibrillator ◽

Vein Thrombosis ◽

Funding Sources ◽

Major Complications

Abstract Funding Acknowledgements Type of funding sources: None. Introduction Implantable cardioverter defibrillator (ICD) is gold standard therapy for primary and secondary prevention of sudden cardiac death (SCD) and ventricular tachyarrhythmias. While reducing arrhythmic mortality in patients with left ventricular dysfunction of various causes, inherited primary arrhythmia syndromes and after aborted SCD, these devices can have serious adverse effects including inappropriate shocks and device-related infection. Purpose The aim of this study was to create an institutional ICD registry and to examine the major complications after ICD implantation. Methods We analysed the data concerning all newly implanted ICDs in our institution from 2011 to 2017. All patients received periprocedural antibiotic prophylaxis according to relevant guidelines. Follow-up data was collected from hospital electronic medical records. Results Total number of implanted ICDs was 507 (85.4% male, 57.6 ± 14.0 years-old) and mean follow-up was 34.3 ± 23.8 months. Major complications (infection, large haematoma/hemorrhage, lead displacement/dysfunction) occurred in 18 (3.6%) patients. In 9 (1.8%) cases patients were diagnosed with ICD infection (8 surgical wound/pocket infections and 1 confirmed endocarditis of the lead). Device was explanted in 5 cases (1.0%) while the rest were treated only with antibiotic therapy (empirically or according to swab/blood culture results). All of the infections were successfully resolved and no relapses were noted. Eventually, 3 of 5 devices were reimplanted. One death was recorded 5 month after the explanation. Second most common complication was lead displacement/dysfunction which occurred in 5 (1.0%) patients and was successfully repaired in all cases. Large haematoma and/or hemorrhage at the implantation site were present in 5 (0.8%) patients (2 required surgical revision and transfusion while 2 were managed by needle aspiration). Pneumothorax (2 cases, 0.4%) had to be drained in one patient. There was one case of subclavian vein thrombosis which was treated by anticoagulation. Conclusion Despite appropriate antibiotic prophylaxis, the rate of ICD infections in our institution was relatively higher than the one reported in similar registries. The prevalence of other major complications, including lead dysfunction was quite low. Institutional registries could help monitor and plan actions to resolve ICD-related complications to improve patient outcomes.

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Abstract 18973: Left Ventricular Function Improvement After Recent MI in Patients Using a Wearable Cardioverter Defibrillator

Circulation ◽

10.1161/circ.130.suppl_2.18973 ◽

2014 ◽

Vol 130 (suppl_2) ◽

Author(s):

Chingping Wan ◽

Steven J Szymkiewicz

Keyword(s):

Heart Failure ◽

Left Ventricular Function ◽

Ventricular Function ◽

Clinical Characteristics ◽

Treated Group ◽

Left Ventricular ◽

Icd Implantation ◽

Cardioverter Defibrillator ◽

Wearable Cardioverter Defibrillator

Introduction: The wearable cardioverter defibrillator (WCD) has been used to protect AMI patients with reduced LVEF (≤35%) until ICD evaluation is recommended. The rate of EF improvement (e.g. EF>35%) over the initial 8-12 weeks after AMI has not been reported. METHODS: The manufacturer-maintained registry was searched for AMI patients who received a WCD shock for VT/VF between 05/2008 and 02/2013. The treated group was matched (1: ~4) with event-free WCD patients by ICD-9 code (410.*), gender, age and prescription date. Chart notes were reviewed for clinical characteristics. Follow-up was assessed through the registry and Social Security Death Master File. RESULTS: There were 992 (age=63±12, female=20.2%) AMI patients included in the final analysis, 206 treated by WCD and 786 event-free patients. Median follow-up was 334 days. Mean length of WCD use was 67±506 (median=38) days. Subgroup clinical characteristics are presented in Table 1. In the event-free group, 289 (38.9%) patients showed EF improvement to >35%. Nine (4.5%) in the treated group continued wearing the WCD until EF recovery, while 125 (60.7%) received ICD. Absence of recorded heart failure and/or diabetes were associated with LVEF recovery (p<.0001). CONCLUSION: In our study, almost 40% of AMI patients with initial EF ≤35% had EF improvement in two months. The EF recovery group had lower rates of heart failure and diabetes. WCD allows time for left ventricular function recovery in low EF post MI patients, optimizing ICD implantation decisions.

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Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy

European Heart Journal ◽

10.1093/eurheartj/ehab598 ◽

2021 ◽

Author(s):

Victor Nauffal ◽

Peter Marstrand ◽

Larry Han ◽

Victoria N Parikh ◽

Adam S Helms ◽

...

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Primary Prevention ◽

Implantable Cardioverter Defibrillator ◽

Cox Proportional Hazards ◽

Icd Implantation ◽

Icd Therapy ◽

Cardioverter Defibrillator ◽

Significant Difference ◽

Implantation Rates ◽

The Impact

Abstract Aims Risk stratification algorithms for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM) and regional differences in clinical practice have evolved over time. We sought to compare primary prevention implantable cardioverter defibrillator (ICD) implantation rates and associated clinical outcomes in US vs. non-US tertiary HCM centres within the international Sarcomeric Human Cardiomyopathy Registry. Methods and results We included patients with HCM enrolled from eight US sites (n = 2650) and five non-US (n = 2660) sites and used multivariable Cox-proportional hazards models to compare outcomes between sites. Primary prevention ICD implantation rates in US sites were two-fold higher than non-US sites (hazard ratio (HR) 2.27 [1.89–2.74]), including in individuals deemed at high 5-year SCD risk (≥6%) based on the HCM risk-SCD score (HR 3.27 [1.76–6.05]). US ICD recipients also had fewer traditional SCD risk factors. Among ICD recipients, rates of appropriate ICD therapy were significantly lower in US vs. non-US sites (HR 0.52 [0.28–0.97]). No significant difference was identified in the incidence of SCD/resuscitated cardiac arrest among non-recipients of ICDs in US vs. non-US sites (HR 1.21 [0.74–1.97]). Conclusion Primary prevention ICDs are implanted more frequently in patients with HCM in US vs. non-US sites across the spectrum of SCD risk. There was a lower rate of appropriate ICD therapy in US sites, consistent with a lower-risk population, and no significant difference in SCD in US vs. non-US patients who did not receive an ICD. Further studies are needed to understand what drives malignant arrhythmias, optimize ICD allocation, and examine the impact of different ICD utilization strategies on long-term outcomes in HCM.

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LEFT VENTRICULAR LEAD IMPLANTATION FOR DETECTION OF VENTRICULAR ARRHYTHMIAS IN PATIENT WITH IMPLANTABLE CARDIOVERTER DEFIBRILLATOR AND LOW R WAVE IN RIGHT VENTRICLE

American Journal of Cardiology Research and Reviews ◽

10.28933/ajcrar-2021-10-1005 ◽

2021 ◽

pp. 17

Author(s):

Keyword(s):

Sudden Cardiac Death ◽

Right Ventricle ◽

Implantable Cardioverter Defibrillator ◽

Cardiac Death ◽

Ventricular Arrhythmias ◽

Systolic Function ◽

Left Ventricular ◽

Icd Implantation ◽

Cardioverter Defibrillator ◽

Ventricular Lead

Dilated cardiomyopathy (DCM) is a disease characterised as left ventricular (LV) or biventricular dilatation with impaired systolic function. Regardless of underlying cause patients with DCM have a propensity to ventricular arrhythmias and sudden cardiac death. Implantable Cardioverter Defibrillator (ICD) implantation for these patients results in significant reduction of sudden cardiac death [1-3]. ICD devices may be limited by right ventricle (RV) sensing dysfunction with low RV sensing amplitude. We present a clinical case of patient with DCM, implanted ICD and low R wave sensing on RV lead.

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P3805Mortality predictors and outcome in patients after upgrade from implantable cardioverter-defibrillator to cardiac resynchronization therapy in comparison to CRT-D de novo implantation

European Heart Journal ◽

10.1093/eurheartj/ehz745.0650 ◽

2019 ◽

Vol 40 (Supplement_1) ◽

Author(s):

E Jedrzejczyk-Patej ◽

M Mazurek ◽

W Kowalska ◽

M Bugajski ◽

A Konieczny-Kozielska ◽

...

Keyword(s):

Infective Endocarditis ◽

Cardiac Resynchronization Therapy ◽

Implantable Cardioverter Defibrillator ◽

De Novo ◽

Left Ventricular ◽

Cardiac Resynchronization ◽

Resynchronization Therapy ◽

Cardioverter Defibrillator ◽

Mortality Predictors

Abstract Background Over a quarter of all cardiac resynchronization therapy (CRT) implants are upgrades from previous devices, mainly from implantable cardioverter-defibrillator (ICD). In comparison to CRT with defibrillator (CRT-D) de novo implantation, upgrade from ICD to CRT-D carries higher risk of complications. Limited number of studies evaluated predictors of death in patients undergoing upgrade from ICD to CRT-D. Aim To determine mortality predictors and outcome in patients undergoing upgrade from ICD to CRT-D in comparison to subjects with CRT-D de novo implantation. Methods Study population consisted of 595 consecutive patients with CRT-D implanted between 2002 and 2015 in tertiary care university hospital, in a densely inhabited, urban region of Poland (480 subjects [84.3%] with CRT-D de novo implantation; 115 patients [15.7%] upgraded from ICD to CRT-D). Results The median follow-up was 1692 days (range: 457–3067). All-cause mortality in patients upgraded from ICD was significantly higher than in subjects with CRT-D implanted de novo (43.5% vs. 35.5%, P=0.045). On multivariable regression analysis, left ventricular end-systolic diameter (HR 1.07, 95% CI 1.02–1.11, P=0.002), creatinine level at baseline (HR 1.01, 95% CI 1.00–1.02, P=0.01), NYHA IV class at baseline (HR 2.36, 95% CI 1.00–5.53, P=0.049) and cardiac device-related infective endocarditis (CDRIE) during follow up (HR 2.42, 95% CI 1.02–5.75, P=0.046) were identified as independent predictors of higher mortality in patients with CRT-D upgraded from ICD. Conclusions Mortality rate in patients upgraded from ICD is higher in comparison to CRT-D de novo implanted subjects, and reaches almost 45% within 4.5 years. Left ventricular dimensions, creatinine level, high NYHA class at baseline and infective endocarditis during follow up are independent mortality predictors in patients with CRT-D upgraded from ICD.

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Clinical outcomes and programming strategies of implantable cardioverter-defibrillator devices in paediatric hypertrophic cardiomyopathy: a UK National Cohort Study

EP Europace ◽

10.1093/europace/euaa307 ◽

2020 ◽

Author(s):

Gabrielle Norrish ◽

Henry Chubb ◽

Ella Field ◽

Karen McLeod ◽

Maria Ilina ◽

...

Keyword(s):

Hypertrophic Cardiomyopathy ◽

Implantable Cardioverter Defibrillator ◽

Incidence Rate ◽

Clinical Outcomes ◽

Cardioverter Defibrillator ◽

National Cohort ◽

Icd Shock ◽

The Uk ◽

Device Complications

Abstract Aims Sudden cardiac death (SCD) is the most common mode of death in paediatric hypertrophic cardiomyopathy (HCM). This study describes the implant and programming strategies with clinical outcomes following implantable cardioverter-defibrillator (ICD) insertion in a well-characterized national paediatric HCM cohort. Methods and results Data from 90 patients undergoing ICD insertion at a median age 13 (±3.5) for primary (n = 67, 74%) or secondary prevention (n = 23, 26%) were collected from a retrospective, longitudinal multi-centre cohort of children (<16 years) with HCM from the UK. Seventy-six (84%) had an endovascular system [14 (18%) dual coil], 3 (3%) epicardial, and 11 (12%) subcutaneous system. Defibrillation threshold (DFT) testing was performed at implant in 68 (76%). Inadequate DFT in four led to implant adjustment in three patients. Over a median follow-up of 54 months (interquartile range 28–111), 25 (28%) patients had 53 appropriate therapies [ICD shock n = 45, anti-tachycardia pacing (ATP) n = 8], incidence rate 4.7 per 100 patient years (95% CI 2.9–7.6). Eight inappropriate therapies occurred in 7 (8%) patients (ICD shock n = 4, ATP n = 4), incidence rate 1.1/100 patient years (95% CI 0.4–2.5). Three patients (3%) died following arrhythmic events, despite a functioning device. Other device complications were seen in 28 patients (31%), including lead-related complications (n = 15) and infection (n = 10). No clinical, device, or programming characteristics predicted time to inappropriate therapy or lead complication. Conclusion In a large national cohort of paediatric HCM patients with an ICD, device and programming strategies varied widely. No particular strategy was associated with inappropriate therapies, missed/delayed therapies, or lead complications.

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Effects of implantable cardioverter defibrillator implantation and shock application on serum endothelin-1 and big-endothelin levels

Clinical Science ◽

10.1042/cs103s233s ◽

2002 ◽

Vol 103 (s2002) ◽

pp. 233S-236S ◽

Cited By ~ 1

Author(s):

Andrea SZÜCS ◽

Katalin KELTAI ◽

Endre ZIMA ◽

Hajnalka VÁGÓ ◽

Pál SOÓS ◽

...

Keyword(s):

Implantable Cardioverter Defibrillator ◽

Heart Diseases ◽

Shock Therapy ◽

Left Ventricular ◽

Left Ventricular Ejection ◽

Icd Implantation ◽

Shock Delivery ◽

Ventricular Ejection Fraction ◽

Cardioverter Defibrillator ◽

Endothelin 1

The incidence of ventricular tachyarrhythmias in the early post-operative period following implantable cardioverter-defibrillator (ICD) implantation is relatively high compared with that in control periods. Since endothelin-1 (ET-1) has been proven to be an endogenous arrhythmogenic substance, we investigated the changes in serum ET-1 and big-ET levels in patients undergoing ICD implantation. Serum concentrations of ET-1 and big-ET were measured in 14 patients with various heart diseases before the operation, as well as 1min and 1h after the last shock therapy. Big-ET levels and the sum of ET-1 and big-ET levels were unchanged immediately after the operation, but had increased significantly by 1h after implantation (before, 1.57±0.61pmol/l; 1min, 1.86±0.87pmol/l; 1h, 4.29±1.65pmol/l for big-ET; before, 3.44±1.07pmol/l; 1min, 3.79±1.29pmol/l; 1h, 6.36±2.03pmol/l for big-ET+ET-1). There was a significant correlation between left ventricular ejection fraction and big-ET level measured 1h after the last shock delivery (r =-0.542, P<0.05). We conclude that the increased big-ET level observed 1h after the last induction and shock therapy of ventricular fibrillation might have a pathophysiological role in the increased incidence of post-operative spontaneous ventricular arrhythmias.

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Anxiety and depression symptoms in Danish patients with an implantable cardioverter-defibrillator: prevalence and association with indication and sex up to 2 years of follow-up (data from the national DEFIB-WOMEN study)

EP Europace ◽

10.1093/europace/euaa176 ◽

2020 ◽

Vol 22 (12) ◽

pp. 1830-1840

Author(s):

Vivi Skibdal Frydensberg ◽

Jens Brock Johansen ◽

Sören Möller ◽

Sam Riahi ◽

Sonja Wehberg ◽

...

Keyword(s):

Implantable Cardioverter Defibrillator ◽

Depression Scale ◽

Anxiety And Depression ◽

Depression Symptoms ◽

Depression Symptom ◽

Icd Implantation ◽

Cardioverter Defibrillator ◽

Time Points ◽

Mixed Modelling

Abstract Aims To investigate (i) the prevalence of anxiety and depression and (ii) the association between indication for implantable cardioverter-defibrillator (ICD) implantation and sex in relation to anxiety and depression up to 24 months’ follow-up. Methods and results Patients with a first-time ICD, participating in the national, multi-centre, prospective DEFIB-WOMEN study (n = 1496; 18% women) completed the Hospital Anxiety and Depression Scale at baseline, 3, 6, 12, and 24 months. Data were analysed using linear mixed modelling for longitudinal data. Patients with a secondary prophylactic indication (SPI) had higher mean anxiety scores than patients with a primary prophylactic indication (PPI) at baseline, 3, and 12 months and higher mean depression scores at all-time points, except at 24 months. Women had higher mean anxiety scores as compared to men at all-time points; however, only higher mean depression scores at baseline. Overall, women with SPI had higher anxiety and depression symptom scores than men with SPI. Symptoms decreased over time in both women and men. From baseline to follow-up, the prevalence of anxiety (score ≥8) was highest in patients with SPI (13.3–20.2%) as compared to patients with PPI (range 10.0–14.7%). The prevalence of depression was stable over the follow-up period in both groups (range 8.5–11.1%). Conclusion Patients with a SPI reported higher anxiety and depression scores as compared to patients with PPI. Women reported higher anxiety scores than men, but only higher depression scores at baseline. Women with SPI reported the highest anxiety and depression scores overall.

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Abstract 2037: Renal Dysfunction and Appropriate Shock Therapy in Implantable Cardioverter Defibrillator Patients with Nonischemic Heart Failure

Circulation ◽

10.1161/circ.116.suppl_16.ii_441-a ◽

2007 ◽

Vol 116 (suppl_16) ◽

Author(s):

Atsushi Takahashi ◽

Tsuyoshi Shiga ◽

Keisuke Futagawa ◽

Ryusuke Kimura ◽

Koichiro Ejima ◽

...

Keyword(s):

Heart Failure ◽

Renal Insufficiency ◽

Renal Dysfunction ◽

Implantable Cardioverter Defibrillator ◽

Shock Therapy ◽

Left Ventricular ◽

Left Ventricular Ejection ◽

Icd Implantation ◽

Cardioverter Defibrillator ◽

Icd Shock

Background: Implantable Cardioverter Defibrillator (ICD) prevent sudden cardiac death in high risk patients with heart failure. The presence of coexisting conditions has a substantial effect on the rate of arrhythmic events in heart failure patients. Renal dysfunction is associated with mortality in patients with myocardial infarction or heart failure, but the influence of degrees of renal impairment is less well defined. Methods: A total of 221 patients who underwent ICD implantation were included between 1990 and 2006. Gromerular Filteration Rate (GFR) was estimated using the Modification of Diet in Renal Disease (MDRD) and renal insufficiency was defined as MDRD GFR<60mL/min/1.73m 2 . Differences in arrhythmia recurrences according to the MDRD GFR were compared by Kaplan-Meier survival curves. Results: During a mean follow-up time of 3.7±2.8 years, 82 (37%) of 221 patients (mean age; 4.7±1.3 years, 71% male) experienced appropriate ICD shock therapy. There was a trend of higher cumulative rate of appropriate ICD shock therapies in patients with renal insufficiency than other patients (p<0.10). The result of subgroup analysis of 94 patients with low LVEF (LVEF<35%) indicated that the patients with renal insufficiency experienced electrical storms more frequently (p<0.05). After correcting for age, sex, left ventricular ejection fraction (LVEF), indication for ICD implantation, and use of beta-blockers in a Cox regression model, low MDRD GFR was still an independent predictor of the time to first appropriate ICD shock (hazard ratio [HR] 2.30, 95% confidence interval [CI] 1.13–4.69, p<0.05). Below 60mL/min/1.73m 2 , each reduction of the MDRD GFR by 10 units was associated with a HR for appropriate shock of 1.40 (95% CI, 1.00 to 1.95). Conclusion: Renal insufficiency is associated with increased rate of arrhythmic event in nonischemic HF patients. Especially, those patients with low LVEF and renal dysfunction experience more frequent ICD shocks.

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