scholarly journals Timing of pacemaker and ICD implantation in LMNA mutation carriers

Open Heart ◽  
2021 ◽  
Vol 8 (1) ◽  
pp. e001622
Author(s):  
Laura Helena Ollila ◽  
Kjell Nikus ◽  
Hannu Parikka ◽  
Sini Weckström ◽  
Heliö Tiina
Keyword(s):  
Pacemaker Implantation ◽  
Conduction System ◽  
Cardiac Conduction ◽  
Icd Implantation ◽  
Device Implantation ◽  
Lmna Mutation ◽  
Mutation Carriers ◽  
Younger Age ◽  
Male Patients

AimsLMNA-cardiomyopathy is often associated with pathology in the cardiac conduction system necessitating device implantations. The aim was to study the timing and types of device implantations and need for re-implantations in LMNA mutation carriers.MethodsWe studied the hospital records of 60 LMNA mutation carriers concerning device implantations and re-implantations and their indications. Data were collected until April 2019.ResultsThe median follow-up time from the first ECG recording to the last clinical follow-up, transplantation, or death was 7.7 (IQR=9.1) years. Altogether 61.7% (n=37) of the LMNA mutation carriers received a pacemaker or an implantable cardioverter defibrillator (ICD), and of them 27.0% (n=10) needed a device upgrade. Notably, in some patients the upgrade took place very soon after the first implantation. The first device was implanted at an average age of 47.9 years (SD=9.5), whereas the upgrade took place at an average age of 50.3 years (SD=8.1). Most upgrades were ICD implantations. Male patients underwent device upgrade more often and at a younger age than women. By the end of follow-up, 35.0% (n=21) of the patients fulfilled echocardiographic criteria for dilated cardiomyopathy, and 90.5% of them (n=19) needed pacemaker implantation.ConclusionMost LMNA mutation carriers underwent pacemaker implantation in this study. Due to the progressive nature of LMNA-cardiomyopathy, device upgrades are quite common. An ICD should be considered when the initial device implantation is planned in an LMNA mutation carrier.

Is alcohol septal ablation in women performed too late?

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
A Batzner ◽  
D Aicha ◽  
H Seggewiss
Keyword(s):  
Hospital Stay ◽  
Pacemaker Implantation ◽  
Posterior Wall ◽  
Hypertrophic Obstructive Cardiomyopathy ◽  
Left Ventricular ◽  
Icd Implantation ◽  
Alcohol Septal Ablation ◽  
Significant Difference ◽  
Surgical Myectomy

Abstract Introduction Alcohol septal ablation (PTSMA) was introduced as interventional alternative to surgical myectomy for symptomatic patients with hypertrophic obstructive cardiomyopathy (HOCM) 25 years ago. As gender differences in diagnosis and treatment of HOCM are still unclear we analyzed baseline characteristics and results of PTSMA in a large single center cohort with respect to gender. Methods and results Between 05/2000 and 06/2017 first PTSMA in our center was performed in 952 patients with symptomatic HOCM. We treated less 388 (40.8%) women and 564 (59.2%) men. All patients underwent clinical follow-up. At the time of the intervention women were older (61.2±14.9 vs. 51.9±13.7 years; p<0.0001) and suffered more often from NYHA grade III/IV dyspnea (80.9% vs. 68.1%; p<0.0001), whereas angina pectoris was comparable in women (62.4%) and men (59.9%). Echocardiographic baseline gradients were comparable in women (rest 65.0±38.1 mmHg and Valsalva 106.2±45.7 mmHg) and men (rest 63.1±38.3 mmHg and Valsalva 103.6±42.8 mmHg). But, women had smaller diameters of the left atrium (44.3±6.9 vs. 47.2±6.5 mm; p<0001), maximal septum thickness (20.4±3.9 vs. 21.4±4.5 mm; p<0.01), and maximal thickness of the left ventricular posterior wall (12.7±2.8 vs. 13.5±2.9 mm; p<0.0001). In women, more septal branches (1.3±0.6 vs. 1.2±0.5; p<0.05) had to be tested to identify the target septal branch. The amount of injected alcohol was comparable (2.0±0, 4 in women vs. 2.1±0.4 ml in men). The maximum CK increase was lower in women (826.0±489.6 vs. 903.4±543.0 U / l; p<0.05). During hospital stay one woman and one man died, each (n.s.). The frequency of total AV blocks in the cathlab showed no significant difference between women (41.5%) and men (38.3%). Furthermore, the rate of permanent pacemaker implantation during hospital stay did not differ (12.1% in women vs. 9.4% in men). Follow-up periods of all patients showed no significant difference between women (5.7±4.9 years) and men (6.2±5.0 years). Overall, 37 (9.5%) women died during this period compared to only 33 (5.9%) men (p<0.05). But, cardiovascular causes of death were not significantly different between women (2.8%) and men (1.6%). Furthermore, the rates of surgical myectomy after failed PTSMA (1.3% in women vs. 2.3% in men), ICD implantation for primary prevention of sudden cardiac death according to current guidelines (4.1% in women vs. 5.9% in men) or pacemaker implantation (3.6% in women vs. 2.0% in men) showed no significant differences. Summary PTSMA in women with HOCM was performed at more advanced age with more pronounced symptoms compared to men. While there were no differences in acute outcomes, overall long-term mortality was higher in women without differences in cardiovascular mortality. Therefore, women may require more intensive diagnostic approaches in order not to miss the correct time for gradient reduction treatment. Funding Acknowledgement Type of funding source: None

Abstract 14845: Masquerading Bundle Branch Block: An Electrocardiographic Marker of Poor Prognosis

Circulation ◽  
2015 ◽  
Vol 132 (suppl_3) ◽  
Author(s):  
Thiago G Schroder e Souza ◽  
Rômulo L Almeida ◽  
Gabriel P Targueta ◽  
Sandro P Felicioni ◽  
Virginia B Cerutti Pinto ◽  
...  
Keyword(s):  
Poor Prognosis ◽  
Survival Curve ◽  
Pacemaker Implantation ◽  
Epidemiological Data ◽  
Cardiac Conduction ◽  
Conduction Delay ◽  
S Wave ◽  
Bundle Branch Block ◽  
Kaplan Meier

Introduction: Masquerading bundle branch block (MBBB) is a rare cardiac conduction anomaly characterized in the Electrocardiogram (EKG) by Right Bundle Branch Block in the precordial leads and Left Bundle Branch Block in frontal leads. The available evidence indicates that it carries poor prognosis and that it is often underdiagnosed. We studied epidemiological peculiarities, electrocardiographic features and prognosis of this rare kind of ventricular conduction delay. Methods: In a review of over 600,000 EKGs from the database of Tele-Electrocardiography department of Dante Pazzanese Institute of Cardiology during the last seven years, we found twenty-five cases of MBBB. Diagnostic criteria were presence of QRS ≥ 0.12 s, dominant positive waves in V1, left axis deviation and absent or minimal S wave in DI and aVL. Epidemiological data was collected for each EKG and the follow-up of patient′s health status was assessed by telephone contact. Kaplan-Meier survival curves were based on the following endpoints: mortality, pacemaker implantation and the composite of both. Results: We identified twenty-five cases (21 males and 4 females) of MBBB. The average age was 69 (±14) years. Sinus rhythm was present in 17 patients (68%), atrial fibrillation in 7 (28%) and atrial flutter in one (4%). Average heart rate, PR interval, QRS length, QTc and QRS axis were, respectively: 70 (±17) bpm, 205 (±50) ms, 159 (±24) ms, 463 (±37) ms and -76° (±6) degrees. Follow-up data was successfully obtained from 15 patients: 4 (26.6%) had a pacemaker implanted, 7 (46.6%) died and 9 had combined endpoints (60%). According to the Kaplan-Meier survival curve, at 48 months, the estimated ratios of death, pacemaker implantation or combined endpoints were 41.4%, 38.9% and 80.2%, respectively. Conclusions: MBBB represents a high-risk condition and, although rare, this EKG pattern should be taken into consideration due to the poor prognosis associated with its presence.

scholarly journals Can Circulating Cardiac Biomarkers Be Helpful in the Assessment of LMNA Mutation Carriers?

2020 ◽  
Vol 9 (5) ◽  
pp. 1443 ◽  
Author(s):  
Przemyslaw Chmielewski ◽  
Ewa Michalak ◽  
Ilona Kowalik ◽  
Maria Franaszczyk ◽  
Malgorzata Sobieszczanska-Malek ◽  
...  
Keyword(s):  
Risk Assessment ◽  
Clinical Laboratory ◽  
Troponin T ◽  
Multivariable Analysis ◽  
High Sensitivity ◽  
Cardiac Biomarkers ◽  
Lamin A ◽  
Lmna Mutation ◽  
Mutation Carriers

Mutations in the lamin A/C gene are variably phenotypically expressed; however, it is unclear whether circulating cardiac biomarkers are helpful in the detection and risk assessment of cardiolaminopathies. We sought to assess (1) clinical characteristics including serum biomarkers: high sensitivity troponin T (hsTnT) and N-terminal prohormone brain natriuretic peptide (NT-proBNP) in clinically stable cardiolaminopathy patients, and (2) outcome among pathogenic/likely pathogenic lamin A/C gene (LMNA) mutation carriers. Our single-centre cohort included 53 patients from 21 families. Clinical, laboratory, follow-up data were analysed. Median follow-up was 1522 days. The earliest abnormality, emerging in the second and third decades of life, was elevated hsTnT (in 12% and in 27% of patients, respectively), followed by the presence of atrioventricular block, heart failure, and malignant ventricular arrhythmia (MVA). In patients with missense vs. other mutations, we found no difference in MVA occurrence and, surprisingly, worse transplant-free survival. Increased levels of both hsTnT and NT-proBNP were strongly associated with MVA occurrence (HR > 13, p ≤ 0.02 in both) in univariable analysis. In multivariable analysis, NT-proBNP level > 150 pg/mL was the only independent indicator of MVA. We conclude that assessment of circulating cardiac biomarkers may help in the detection and risk assessment of cardiolaminopathies.

scholarly journals Incidence of carditis and predictors of pacemaker implantation in patients hospitalized with Lyme disease

PLoS ONE ◽  
2021 ◽  
Vol 16 (11) ◽  
pp. e0259123
Author(s):  
Uwajachukwumma A. Uzomah ◽  
Guy Rozen ◽  
Seyed Mohammadreza Hosseini ◽  
Ayman Shaqdan ◽  
Pablo A. Ledesma ◽  
...  
Keyword(s):  
Lyme Disease ◽  
Pacemaker Implantation ◽  
Permanent Pacemaker ◽  
Conduction System ◽  
Cardiac Conduction ◽  
Cardiac Conduction System ◽  
Permanent Pacemaker Implantation ◽  
System Disease ◽  
Lyme Carditis ◽  
Conduction System Disease

Background Lyme carditis, defined as direct infection of cardiac tissue by Borrelia bacteria, affects up to 10% of patients with Lyme disease. The most frequently reported clinical manifestation of Lyme carditis is cardiac conduction system disease. The goal of this study was to identify the incidence and predictors of permanent pacemaker implantation in patients hospitalized with Lyme disease. Methods A retrospective cohort analysis of the Nationwide Inpatient sample was performed to identify patients hospitalized with Lyme disease in the US between 2003 and 2014. Patients with Lyme carditis were defined as those hospitalized with Lyme disease who also had cardiac conduction disease, acute myocarditis, or acute pericarditis. Patients who already had pacemaker implants at the time of hospitalization (N = 310) were excluded from the Lyme carditis subgroup. The primary study outcome was permanent pacemaker implantation. Secondary outcomes included temporary cardiac pacing, permanent pacemaker implant, and in-hospital mortality. Results Of the 96,140 patients hospitalized with Lyme disease during the study period, 10,465 (11%) presented with Lyme carditis. Cardiac conduction system disease was present in 9,729 (93%) of patients with Lyme carditis. Permanent pacemaker implantation was performed in 1,033 patients (1% of all Lyme hospitalizations and 11% of patients with Lyme carditis-associated conduction system disease). Predictors of permanent pacemaker implantation included older age (OR: 1.06 per 1 year; 95% CI:1.05–1.07; P<0.001), complete heart block (OR: 21.5; 95% CI: 12.9–35.7; P<0.001), and sinoatrial node dysfunction (OR: 16.8; 95% CI: 8.7–32.6; P<0.001). In-hospital mortality rate was higher in patients with Lyme carditis (1.5%) than in patients without Lyme carditis (0.5%). Conclusions Approximately 11% of patients hospitalized with Lyme disease present with carditis, primarily in the form of cardiac conduction system disease. In this 12-year study, 1% of all hospitalized patients and 11% of those with Lyme-associated cardiac conduction system disease underwent permanent pacemaker implantation.

Abstract 16603: Appropriate Timing of Pacemaker Implantation in Patients With Wild-Type and Variant Amyloidogenic Transthyretin Cardiac Amyloidosis

Circulation ◽  
2020 ◽  
Vol 142 (Suppl_3) ◽  
Author(s):  
Yusei Kawahara ◽  
Miwa Ito ◽  
Tadashi Hoshiyama ◽  
Hisanori Kanazawa ◽  
Kenichi Tsujita
Keyword(s):  
Cardiac Amyloidosis ◽  
Pacemaker Implantation ◽  
The Other ◽  
Cardiac Conduction ◽  
Wild Type ◽  
Conduction Disorders ◽  
Other Hand ◽  
Conduction Disorder ◽  
Second Degree

Background and Objectives: It has been shown that cardiac conduction disorders can be seen in patients with wild-type amyloidogenic transthyretin (ATTRwt) and variant ATTR (ATTRv) cardiac amyloidosis. However, its appropriate timing of pacemaker implantation has not been clarified yet. Methods and Results: The consecutive 100 patients with ATTRwt cardiac amyloidosis who diagnosed by myocardium biopsy and/or technetium-99m-pyrophosphate scintigraphy and 62 patients with ATTRv cardiac amyloidosis who diagnosed by means of genetic screening were included in this study. In patients with ATTRwt cardiac amyloidosis, 21 patients have normal conduction at the time of diagnosis. However, conduction disorder had seen in only 5 patient (first degree atrioventricular block (AVB); 4 patients, complete AVB; 1 patients) and only one patient underwent cardiac implantable electric device (CIED) implantation during follow-up period. On the other hand, in patients with ATTRv cardiac amyloidosis, 36 patients have normal conduction at the time of diagnosis. However, conduction disorder had seen in 13 patient (first degree AVB; 8 patients, second degree AVB; 3 patients, trifascicular block; 1 patients, complete AVB; 1 patients) (5/21 vs 13/36, p=0.335) and 6 patients underwent CIED implantation during follow-up period (1/21 vs 6/36, p=0.186). Furthermore, in ATTRwt cardiac amyloidosis, 10 patients (first degree AVB; 2 patients, second degree AVB; 1 patient, trifascicular block; 7 patients) had underwent CIED implantation because of cardiac conduction disorders and/or prevention of sudden cardiac death. However, only 4 patients with trifascicular block progressed to complete AVB.On the other hand, In ATTRv cardiac amyloidosis, 14 patients (first degree AVB; 2 patients, second degree AVB; 4 patient, trifascicular block; 8 patients) had underwent CIED implantation for same reason. However, only 3 patients with trifascicular block progressed to complete AVB. Conclusions: Patients with ATTRv cardiac amyloidosis were more likely to progress conduction disorders than those with ATTRwt cardiac amyloidosis. However, prophylactic pacemaker implantation might had not need in both ATTRwt and ATTRv patients with first or second degree AVB.

scholarly journals Circulating Soluble ST2 Predicts All-Cause Mortality in Severe Heart Failure Patients with an Implantable Cardioverter Defibrillator

2020 ◽  
Vol 2020 ◽  
pp. 1-7
Author(s):  
Zhi-wei Hou ◽  
Hai-bo Yu ◽  
Yan-chun Liang ◽  
Yang Gao ◽  
Guo-qing Xu ◽  
...  
Keyword(s):  
Heart Failure ◽  
High Risk ◽  
Implantable Cardioverter Defibrillator ◽  
Severe Heart Failure ◽  
Icd Implantation ◽  
Soluble St2 ◽  
Cardioverter Defibrillator ◽  
Device Implantation ◽  
All Cause Mortality

Background. Heart failure (HF) is the terminal stage of all cardiovascular events. Although implantable cardioverter defibrillator (ICD) therapies have reduced mortality among the high-risk HF population, it is necessary to determine whether certain factors can predict mortality even after cardiac device implantation. Growth stimulation expressed gene 2 (ST2) is an emerging biomarker for HF patient stratification in different clinical settings. Aims. This study aimed to investigate the relationship between baseline soluble ST2 (sST2) levels in serum and the clinical outcomes of high-risk HF patients with device implantation. Methods. Between January 2017 and August 2018, we prospectively recruited consecutive patients implanted with an ICD for heart failure, with LVEF ≤35% as recommended, and analyzed the basic characteristics, baseline serum sST2, and NT-proBNP levels, with at least 1-year follow-up. All-cause mortality was the primary endpoint. Results. During a 643-day follow-up, all-cause mortality occurred in 16 of 150 patients (10.67%). Incidence of all-cause mortality increased significantly in patients with sST2 levels above 34.98846 ng/ml (16.00% vs. 5.33%, P = 0.034 ). After adjusting the model (age, gender, device implantation, prevention of sudden death, LVEDD, LVEF, WBC and CLBBB, hsTNT, etiology, and eGFR) and the model combined with NT-proBNP, the risk of all-cause death was increased by 2.5% and 1.9%, respectively, per ng/ml of sST2. The best sST2 cutoff for predicting all-cause death was 43.42671 ng/ml (area under the curve: 0.72, sensitive: 0.69, and specificity: 0.69). Compared to patients with sST2 levels below 43.42671 ng/ml, the risk of all-cause mortality was higher in those with values above the threshold (5.1% vs. 21.2%, P = 0.002 ). ST2 level ≥43.42671 ng/ml was an independent predictor of all-cause mortality (HR: 3.30 [95% CI 1.02–10.67]). Age (HR: 1.06 [95% CI: 1.01–1.12]) and increased NT-proBNP per 100 (HR: 1.02 [95% CI: 1.01–1.03]) were also associated with all-cause mortality in ICD patients. Conclusions. sST2 level was associated with risk of all-cause mortality, and a threshold of 43.43 ng/ml showed good distinguishing performance to predict all-cause mortality in patients with severe heart failure, recommended for ICD implantation. Patients with sST2 levels more than 43.42671 ng/ml even after ICD implantation should therefore be monitored carefully.

scholarly journals Inappropriate shock in Brugada syndrome: incidence and predictors in patients with a subcutaneous implantable cardiac defibrillator

2021 ◽  
Author(s):  
Gavino Casu ◽  
Etelvino Silva ◽  
Felipe Bisbal ◽  
Graziana Viola ◽  
Pierluigi Merella ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Age At Diagnosis ◽  
Screening Tests ◽  
Implantable Cardioverter Defibrillators ◽  
Icd Implantation ◽  
Screening Process ◽  
Younger Age ◽  
Primary Vector ◽  
Automated Screening

Abstract Background: Subcutaneous implantable cardioverter defibrillators (S-ICDs) avoid complications secondary to transvenous leads, but inappropriate shocks (ISs) are frequent. Furthermore, IS data from patients with Brugada syndrome (BrS) with an S-ICD are scarce. Objective: We aimed to establish the incidence, mechanisms, and predictors of S-ICD in this population. Methods: We analyzed the clinical and electrocardiographic characteristics, automated screening test data, device programming, and IS occurrence in adult patients with BrS with an S-ICD. Results: Thirty-nine patients were enrolled (69% male, mean age at diagnosis 46±13 years, mean age at implantation 48±13 years). During a mean follow-up of 26±21 months, 18% patients experienced IS. Patients with IS were younger at the time of diagnosis (36±8 versus 48±13 years, p=0.018) and S-ICD implantation (38±9 versus 50±23 years, p=0.019) and presented with spontaneous type 1 Brugada ECG pattern more frequently at diagnosis or during follow-up (71% versus 25%, p=0.018). During automated screening tests, patients with IS showed lower QRS voltage in the primary vector in the supine position (0.58±0.26 versus 1.10±0.35 mV, p=0.011) and lower defibrillator automated screening score (DASS) in the primary vector in the supine (123±165 versus 554±390 mV, p=0.005) and standing (162±179 versus 486±388 mV, p=0.038) positions. Age at diagnosis was the only independent predictor of IS (hazard ratio=0.873, 95% confidence interval: 0.767-0.992, p=0.037). Conclusion: IS was a frequent complication in patients with BrS with an S-ICD. Younger age was independently associated with IS. A more thorough screening process might help prevent IS in this population.

Incidence and predictors of complete atrioventricular conduction recovery among patients with heart block

2020 ◽  
Author(s):  
Samet Yilmaz ◽  
Mehmet Kilinc ◽  
Mehmet Koray Adali ◽  
Ipek Buber ◽  
Dursun Dursunoglu
Keyword(s):  
Pacemaker Implantation ◽  
High Serum ◽  
Av Block ◽  
Clinical Factors ◽  
Coronary Syndrome ◽  
Younger Age ◽  
Tertiary Center ◽  
Β Blocker ◽  
Complete Atrioventricular

Aim: In this study, our aim was to determine clinical factors related to the recovery of the conduction system in patients presenting with atrioventricular (AV) block. Materials & methods: A total of 178 patients who were hospitalized at a tertiary center due to second- or third-degree AV block were retrospectively analyzed. Results: During hospital follow-up, 19.1% of patients had fully recovered from AV block. According to a logistic regression analysis; younger age (odds ratio [OR]: 0.950; 95% CI: 0.932–0.967; p < 0.001), presenting with acute coronary syndrome (OR: 18.863; 95% CI: 3.776–94.222; p < 0.001), β-blocker usage (OR: 12.081; 95% CI: 3.498–41.726; p < 0.001), high serum creatinine levels (OR: 4.338; 95% CI: 2.110–8.918; p < 0.001) and no calcification at the aortic valve (OR: 0.189; 95% CI: 0.050–0.679; p = 0.011) were found to be related to resolution of AV block. Conclusion: It is crucial to know the reversible causes of AV block to prevent unnecessary permanent pacemaker implantation.

scholarly journals ICD implantation and device therapy: Fabry vs hypertrophic cardiomyopathy

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
R Vijapurapu ◽  
A Zegard ◽  
F Leyva ◽  
W Bradlow ◽  
A Jovanovic ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Primary Prevention ◽  
Shock Therapy ◽  
Left Ventricular ◽  
Device Therapy ◽  
Icd Implantation ◽  
Device Implantation ◽  
Cardiac Devices ◽  
Lv Mass

Abstract Background Cardiac involvement of Fabry disease (FD) includes left ventricular hypertrophy (LVH), inflammation, arrhythmia and sudden death. There are limited data regarding potential risk predictors and no definitive criteria exist to guide implantation of cardiac devices for primary prevention. Despite phenotypic similarities between FD and hypertrophic cardiomyopathy (HCM), FD is specifically excluded from the ESC sudden cardiac death risk prediction tool used for HCM. Purpose To evaluate differences in device implantation and arrhythmic burden between advanced Fabry cardiomyopathy and HCM. Methods This multi-centre, retrospective study including genetically confirmed FD and age/gender-matched HCM patients all of whom had an implantable cardioverter defibrillator (ICD). Data was collected prior to device implantation on disease characteristics, biomarkers and CMR imaging. Arrhythmia burden and changes in therapy were captured following implantation. Results Of the UK FD population under follow-up, 50/880 had an ICD implanted (80% males, 51% non-classical mutation, mean age at device implantation 57±12 years). A comparator group included 64 age- and gender-matched HCM patients (67% males, mean age at implant 46±39 years). Baseline LV mass was greater in FD (291±97g/m2 vs 218±78g/m2, p=0.012). FD patients had higher troponin (95 vs 19ng/l, p&lt;0.001) but similar NT-pro-BNP (1687 vs 888ng/l, p=0.086) levels. Indications for ICD insertion in FD included: presumed HCM dual pathology 14%, symptomatic NSVT 18%, asymptomatic NSVT 24%, co-existing long QT 2%, CRT-D 14%, no clear indication (primary prevention in the presence of multiple potential arrhythmic risk factors) 28%. All HCM patients were risk stratified and underwent device implantation based on an estimated 5-year SCD risk &gt;4%. All FD patients had a SCD risk &gt;4% using this risk calculator. Arrhythmia were more common in FD over shorter follow-up (37/50, 74% over 4.3±3.0 years vs 28/64 in HCM, 44% over 6.5±2.9 years, p=0.001). Notably, VT requiring anti-tachycardia pacing (ATP) +/− defibrillation therapy from the ICD was more frequent (FD: 14/50, 28% vs HCM: 8/64, 12%, p=0.055), as was immediate shock therapy for sustained VT (p=0.009, figure panel B). FD patients with arrhythmia were often older, had greater LV mass, a larger left atrium and a broader QRS duration. These clinical features tended to occur more frequently in FD than in the HCM group. Conclusion This study has shown that delivery of device therapy in Fabry cardiomyopathy is higher than in HCM. Despite similar rates of asymptomatic NSVT, a higher rate of ventricular arrhythmia requiring ATP/defibrillation therapy occurred in FD. Although both FD and HCM had similar risk percentages according to the ESC calculator, active troponitis in FD was double that of HCM. Funding Acknowledgement Type of funding source: None

scholarly journals Rare SCN10A variants associated with cardiac conduction system diseases

2020 ◽  
Vol 41 (Supplement_2) ◽  
Author(s):  
K Hayashi ◽  
N Fujino ◽  
H Furusho ◽  
S Usui ◽  
K Sakata ◽  
...  
Keyword(s):  
Rare Variants ◽  
Association Studies ◽  
Electrophysiological Study ◽  
Sinus Node ◽  
Pacemaker Implantation ◽  
Conduction System ◽  
Cardiac Conduction ◽  
Cardiac Conduction System ◽  
Genome Wide Association Studies ◽  
Standards And Guidelines

Abstract Background The genetic bases of cardiac conduction-system disease (CCSD) range from ion channelopathies to mutations in many other genes. Genome-wide association studies have shown common variants in SCN10A influence cardiac conduction. However, it has not yet to be determined whether vulnerability to CCSD is associated with rare coding sequence variation in the SCN10A gene. Purpose We sought to determine the clinical impact of rare variants in SCN10A in patients with CCSD and classified the variants according to the 2015 American College of Medical Genetics and Genomics (ACMG) standards and guidelines. Methods We performed screening for rare variants (minor allele frequency ≤0.001) in SCN10A in CCSD patients with an onset at a young age under 65 or those who had a family history of pacemaker implantation (PMI) (n=40; 18 female; mean age, 41±18 years). We transiently expressed engineered variants in ND 7/23 cells, and conducted whole-cell voltage clamp experiments to clarify the functional properties of the Nav1.8 current. Results We identified nine rare variants in SCN10A in 7 patients. Two patients were carriers of two rare variants in SCN10A and 5 were carriers of one rare variant in SCN10A. Four patients were affected with sinus node dysfunction, 1 were atrioventricular block, and 2 were both dysfunctions. We performed electrophysiological study for 8 of 9 rare variants. It demonstrated that 2 rare variants showed gain-of-function, and 3 rare variants showed loss-of-function. We finally determined 5 likely pathogenic variants in SCN10A in 5 patients (12.5%) according to the ACMG standards and guidelines. All 5 patients underwent a pacemaker implantation at an average age of 43±16. Conclusions These results demonstrate that SCN10A variants play a pivotal role in enhanced susceptibility of CCSD. We suggest the importance for screening SCN10A variants in clinical settings. Funding Acknowledgement Type of funding source: None

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