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1.
Can J Cardiol ; 36(3): 416-423, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32145868

RESUMO

Cardiac amyloidosis occurs secondarily to the deposition of insoluble protein fibrils in cardiac tissue leading to progressive myocardial dysfunction, clinical heart failure, and arrhythmia. In recent years, increasing awareness and improved screening have resulted in an increased prevalence of cardiac amyloidosis, with contemporary estimates reporting a prevalence of 18-55 cases per 100,000 person-years, accounting for > 13% of heart failure hospitalizations. The arrhythmic manifestations of cardiac amyloidosis can range from conduction-system disease and bradyarrhythmias to atrial fibrillation and sudden cardiac death. Bradyarrhythmias and conduction system disease may occur secondarily to amyloid infiltration, but the timing of pacemaker implantation remains unclear. When available, biventricular pacing should be considered in symptomatic patients, particularly in those expected to receive a high burden of ventricular pacing (> 40%). The management of atrial fibrillation can be challenging, because contemporary agents for rate and rhythm control may be poorly tolerated in patients with cardiac amyloidosis. Patients with cardiac amyloidosis also have a high rate of intracardiac thrombus and should be anticoagulated in the presence of atrial fibrillation (regardless of CHADS2 score). We generally consider transesophageal echocardiography before cardioversion regardless of anticoagulation status or duration of arrhythmia. Ventricular arrhythmias may also occur in patients with cardiac amyloidosis, and decisions surrounding implantable cardioverter-defibrillator implantation should balance the risks of ventricular arrhythmia and sudden cardiac death with the competing risks of worsening heart failure and noncardiac death. In this review, we cover the primary arrhythmic manifestations of cardiac amyloidosis and discuss their management considerations.

2.
Anesth Analg ; 2020 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-32149759

RESUMO

BACKGROUND: QT interval prolongation is associated with torsade de pointes but remains a poor predictor of drug torsadogenicity. Increased transmural dispersion of myocardial repolarization (TDR), measured as the time interval between the peak and end of the T wave (Tp-e), is a more reliable predictor. Carbetocin is recommended as an uterotonic in patients undergoing cesarean delivery (CD), but its effect on Tp-e is unknown. We evaluated the effect of carbetocin dose on Tp-e and Bazett-corrected QT intervals (QTc) during elective CD under spinal anesthesia. METHODS: On patient consent, 50 healthy parturients undergoing elective CD with a standardized spinal anesthetic and phenylephrine infusion were randomized to receive an intravenous (IV) bolus of carbetocin 50 µg (C50) or 100 µg (C100) via an infusion pump over 1 minute. A 12-lead electrocardiogram (ECG) was obtained at baseline, 5 minutes after spinal anesthesia, then 5 and 10 minutes after carbetocin administration. A cardiologist blinded to group and timing of ECGs measured QTc and Tp-e using Emori's criteria. Primary outcome was the change in Tp-e at 5 minutes after carbetocin administration between the C50 and C100 groups and within each group compared to baseline values. Secondary outcomes included occurrence of arrhythmias, changes in QTc at 5 and 10 minutes after carbetocin, changes in both QTc and Tp-e after spinal anesthesia compared to baseline between and within groups. RESULTS: Data from 41 parturients with a mean (standard deviation [SD]) age of 39.0 (0.7) years and weight of 75.0 (12.0) kg were analyzed. Between groups, at 5 minutes after carbetocin administration, Tp-e in C100 was 4.1 milliseconds longer compared to C50 (95% confidence interval [CI], 0.8-7.5; P = .01). Within groups, at 5 minutes after carbetocin administration, C50 did not significantly increase Tp-e compared to baseline (mean difference [MD] 1.9 milliseconds; 95% CI, -0.95 to 4.81 milliseconds; P = .42) but C100 did (MD 5.1 milliseconds; 95% CI, 2.1-8.1; P = .003). QTc increased significantly within C50 and C100 groups at 5 and 10 minutes after carbetocin administration (all P < .001), with no between-group differences. There were no arrhythmias. CONCLUSIONS: Tp-e was unaffected by C50 IV given after CD in healthy parturients under spinal anesthesia, but minimally prolonged by C100. The increase in QTc after carbetocin administration was statistically significant, but with no apparent dose-dependent effect. The minimal Tp-e prolongation at the higher dose is unlikely to have any clinically significant impact on TDR and therefore the risk of inducing torsade de pointes is low.

3.
Circ Arrhythm Electrophysiol ; 13(3): e007471, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32063070

RESUMO

BACKGROUND: Risk stratification in catecholaminergic polymorphic ventricular tachycardia remains ill defined. Heart rate recovery (HRR) immediately after exercise is regulated by autonomic reflexes, particularly vagal tone, and may be associated with symptoms and ventricular arrhythmias in patients with catecholaminergic polymorphic ventricular tachycardia. Our objective was to evaluate whether HRR after maximal exercise on the exercise stress test (EST) is associated with symptoms and ventricular arrhythmias. METHODS: In this retrospective observational study, we included patients ≤65 years of age with an EST without antiarrhythmic drugs who attained at least 80% of their age- and sex-predicted maximal HR. HRR in the recovery phase was calculated as the difference in heart rate (HR) at maximal exercise and at 1 minute in the recovery phase (ΔHRR1'). RESULTS: We included 187 patients (median age, 36 years; 68 [36%] symptomatic before diagnosis). Pre-EST HR and maximal HR were equal among symptomatic and asymptomatic patients. Patients who were symptomatic before diagnosis had a greater ΔHRR1' after maximal exercise (43 [interquartile range, 25-58] versus 25 [interquartile range, 19-34] beats/min; P<0.001). Corrected for age, sex, and relatedness, patients in the upper tertile for ΔHRR1' had an odds ratio of 3.4 (95% CI, 1.6-7.4) of being symptomatic before diagnosis (P<0.001). In addition, ΔHRR1' was higher in patients with complex ventricular arrhythmias at EST off antiarrhythmic drugs (33 [interquartile range, 22-48] versus 27 [interquartile range, 20-36] beats/min; P=0.01). After diagnosis, patients with a ΔHRR1' in the upper tertile of its distribution had significantly more arrhythmic events as compared with patients in the other tertiles (P=0.045). CONCLUSIONS: Catecholaminergic polymorphic ventricular tachycardia patients with a larger HRR following exercise are more likely to be symptomatic and have complex ventricular arrhythmias during the first EST off antiarrhythmic drug.

4.
Heart Rhythm ; 2020 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-32036023

RESUMO

BACKGROUND: Unexplained cardiac arrest (UCA) is rare in children. Despite investigations, the etiology in up to one-half of patients remains unknown. OBJECTIVE: The purpose of this study was to assess the management and outcomes of pediatric UCA survivors through the Canadian Pediatric Heart Rhythm Network. METHODS: A retrospective case series of children (age 1-19 years) who presented with UCA between January 1, 2004, and November 1, 2017, was conducted. Patients with known heart disease pre-UCA were excluded. UCA details, investigations, genetic test results, treatment, implantable cardioverter-defibrillator (ICD) data, subsequent diagnoses, and family screening data were collected. RESULTS: Forty-six patients (61% male) were survivors of sudden unexpected death and met inclusion criteria at 8 participating sites. Median age at UCA was 13.8 years (interquartile range [IQR] 9-16 years). Baseline retrievable investigations included electrocardiogram (96%), echocardiogram (85%), exercise stress test (73%), and cardiac magnetic resonance imaging (57%). The presumed etiology for the UCA was identified in 24 (52%), mainly long QT syndrome or catecholaminergic polymorphic ventricular tachycardia. Genetic testing was performed in 33 of 46 (72%), with pathogenic/likely pathogenic variants identified in 13 of 33 (39%) and variants of uncertain significance in 8 of 33 (24%). ICDs were implanted in 35 of 46 (76%). Over median follow-up of 36 months (IQR 17-57 months), 8 of 35 had arrhythmia events captured on device interrogation. Families of 26 of 46 patients(57%) underwent screening, leading to a cardiac diagnosis in 6 of 26 families. CONCLUSION: A cause for UCA was not identified in nearly 50% of patients despite extensive investigations, including cascade screening. A large proportion (75%) of ICD shocks occurred in patients without a diagnosis.

6.
Circulation ; 141(6): 429-439, 2020 Feb 11.
Artigo em Inglês | MEDLINE | ID: mdl-31941373

RESUMO

BACKGROUND: Insight into type 5 long QT syndrome (LQT5) has been limited to case reports and small family series. Improved understanding of the clinical phenotype and genetic features associated with rare KCNE1 variants implicated in LQT5 was sought through an international multicenter collaboration. METHODS: Patients with either presumed autosomal dominant LQT5 (N = 229) or the recessive Type 2 Jervell and Lange-Nielsen syndrome (N = 19) were enrolled from 22 genetic arrhythmia clinics and 4 registries from 9 countries. KCNE1 variants were evaluated for ECG penetrance (defined as QTc >460 ms on presenting ECG) and genotype-phenotype segregation. Multivariable Cox regression was used to compare the associations between clinical and genetic variables with a composite primary outcome of definite arrhythmic events, including appropriate implantable cardioverter-defibrillator shocks, aborted cardiac arrest, and sudden cardiac death. RESULTS: A total of 32 distinct KCNE1 rare variants were identified in 89 probands and 140 genotype positive family members with presumed LQT5 and an additional 19 Type 2 Jervell and Lange-Nielsen syndrome patients. Among presumed LQT5 patients, the mean QTc on presenting ECG was significantly longer in probands (476.9±38.6 ms) compared with genotype positive family members (441.8±30.9 ms, P<0.001). ECG penetrance for heterozygous genotype positive family members was 20.7% (29/140). A definite arrhythmic event was experienced in 16.9% (15/89) of heterozygous probands in comparison with 1.4% (2/140) of family members (adjusted hazard ratio [HR] 11.6 [95% CI, 2.6-52.2]; P=0.001). Event incidence did not differ significantly for Type 2 Jervell and Lange-Nielsen syndrome patients relative to the overall heterozygous cohort (10.5% [2/19]; HR 1.7 [95% CI, 0.3-10.8], P=0.590). The cumulative prevalence of the 32 KCNE1 variants in the Genome Aggregation Database, which is a human database of exome and genome sequencing data from now over 140 000 individuals, was 238-fold greater than the anticipated prevalence of all LQT5 combined (0.238% vs 0.001%). CONCLUSIONS: The present study suggests that putative/confirmed loss-of-function KCNE1 variants predispose to QT prolongation, however, the low ECG penetrance observed suggests they do not manifest clinically in the majority of individuals, aligning with the mild phenotype observed for Type 2 Jervell and Lange-Nielsen syndrome patients.

7.
Heart Rhythm ; 17(2): 341-348, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31400520

RESUMO

Pregnancy is a period of increased cardiovascular risk in a woman's life. In the setting of an inherited arrhythmia syndrome (IAS), cardiologists and obstetricians may be unfamiliar with cardiovascular optimization and risk stratification in pregnancy. Historically, there were little data addressing the safety of pregnancy in these rare disorders. Recent advances suggest that no type of IAS represents an absolute contraindication to pregnancy. However, it is imperative that obstetric and cardiovascular clinicians understand the major forms of IAS and how they affect the risks and course of pregnancy. This includes any disease-specific proarrhythmic triggers unique to pregnancy, such as the postpartum period in long QT syndrome (especially type 2), which poses the greatest risk of arrhythmias, and the adrenergic nature of labor and delivery, which is relevant to catecholaminergic polymorphic ventricular tachycardia. Fortunately, several effective antiarrhythmic options exist that pose little fetal risk. IAS-specific optimization of implantable cardioverter-defibrillator algorithms, drug therapy, and a maternal cardiac plan addressing the antepartum, labor, and delivery and postpartum periods reduces the risk. Where evidence does not exist, there are plausible mechanistic considerations to guide clinicians. To achieve optimal outcomes, early involvement of an expert pregnancy heart team comprising obstetrics, genetics, cardiology, and anesthesiology team members and a shared decision-making approach to IAS issues in pregnancy are needed.

8.
Artigo em Inglês | MEDLINE | ID: mdl-31685385

RESUMO

The implantable cardioverter defibrillator (ICD) is often considered a routine intervention for an inherited heart rhythm disorder (IHRD) despite there being little to no randomized data for non-ischemic indications. Furthermore, existing IHRD studies often do not report adverse ICD outcomes, and observational data increasingly show that complications are under-recognized. Only recently have tools emerged to address the rational use of ICDs for specific forms of IHRD, although the acceptable risk of device complications remains unestablished. Here, we summarize the evidence of ICD benefit and harm in IHRD, highlight current knowledge gaps, and propose alternative and adjunctive options to the transvenous ICD.

9.
J Cardiovasc Electrophysiol ; 30(10): 1923-1929, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31231889

RESUMO

INTRODUCTION: Risk stratification tools for catecholaminergic polymorphic ventricular tachycardia (CPVT) are limited. The exercise stress test (EST) is the most important diagnostic and prognostic test. We aimed to determine whether heart rate (HR) and blood pressure (BP) response during EST were associated with the risk of arrhythmias. MATERIALS AND METHODS: We studied the association between HR and BP response and ventricular arrhythmia burden on EST in 20 CPVT patients. HR reserve values <80% and ≤62% were used to define chronotropic incompetence (CI) off and on therapy, respectively. Symptoms and ventricular arrhythmia score (VAS) in all patients with respect to CI and BP during index EST off therapy and on maximal therapy were compared. RESULTS: CI in CPVT patients off therapy was associated with a worse VAS during EST (P = .046). Patients with CI also more frequently presented with syncope and/or cardiac arrest compared to patients with a normal chronotropic response (P = .008). Once on therapy, patients with CI had similar VAS compared to patients without CI (P = .50), suggesting that treatment attenuates risk related to CI. Patients with CI also had a lower peak systolic BP (P = .041) which persisted on maximal therapy (P = .033). CONCLUSION: Untreated CPVT patients with CI have more ventricular arrhythmias than those without CI. This may serve as a simple disease prognosticator that can be modified by antiarrhythmic therapy. A mechanistic link between CI and arrhythmia susceptibility remains unknown. Larger studies are needed to confirm and establish the mechanism of these findings.

11.
Eur Heart J ; 40(35): 2953-2961, 2019 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-31145795

RESUMO

AIMS: In patients with catecholaminergic polymorphic ventricular tachycardia (CPVT), implantable cardioverter-defibrillator (ICD) shocks are sometimes ineffective and may even trigger fatal electrical storms. We assessed the efficacy and complications of ICDs placed in patients with CPVT who presented with a sentinel event of sudden cardiac arrest (SCA) while undiagnosed and therefore untreated. METHODS AND RESULTS: We analysed 136 patients who presented with SCA and in whom CPVT was diagnosed subsequently, leading to the initiation of guideline-directed therapy, including ß-blockers, flecainide, and/or left cardiac sympathetic denervation. An ICD was implanted in 79 patients (58.1%). The primary outcome of the study was sudden cardiac death (SCD). The secondary outcomes were composite outcomes of SCD, SCA, appropriate ICD shocks, and syncope. After a median follow-up of 4.8 years, SCD had occurred in three patients (3.8%) with an ICD and none of the patients without an ICD (P = 0.1). SCD, SCA, or appropriate ICD shocks occurred in 37 patients (46.8%) with an ICD and 9 patients (15.8%) without an ICD (P < 0.0001). Inappropriate ICD shocks occurred in 19 patients (24.7%) and other device-related complications in 22 patients (28.9%). CONCLUSION: In previously undiagnosed patients with CPVT who presented with SCA, an ICD was not associated with improved survival. Instead, the ICD was associated with both a high rate of appropriate ICD shocks and inappropriate ICD shocks along with other device-related complications. Strict adherence to guideline-directed therapy without an ICD may provide adequate protection in these patients without all the potential disadvantages of an ICD.

12.
Can J Cardiol ; 35(4): 539-543, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-30935645

RESUMO

ß-Blockers are a cornerstone of therapy for cardiovascular disease, but their clinical benefits are not consistent across the class and specific agents are preferred for certain indications. Further, when prescribed, a patient's clinical status might change, requiring the cardiologist to switch to an alternate agent. Examples of such scenarios include the development or a worsening of chronic noncardiac diseases (eg, hyperthyroidism, renal failure), new cardiac-related disease (eg, heart failure, atrial fibrillation), or practical/safety issues (eg, pregnancy, cost, side effects). However, guidelines on how to best switch to a different ß-blocker are lacking. Additionally, most hospital-based formularies and guidelines do not provide recommendations around common challenges, like medication intolerance or adjustments for acute illness. We present a practical approach to switching between commonly prescribed ß-blockers, which considers drug interchangeability for various indications, rationale for switching, necessary initial adjustments to dose/frequency, and differences in target/maximal doses.


Assuntos
Antagonistas Adrenérgicos beta/farmacologia , Substituição de Medicamentos , Antagonistas Adrenérgicos beta/administração & dosagem , Doenças Cardiovasculares/tratamento farmacológico , Comorbidade , Relação Dose-Resposta a Droga , Esquema de Medicação , Humanos
13.
JACC Clin Electrophysiol ; 5(3): 267-283, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30898228

RESUMO

After the most common causes of sudden cardiac death including ischemic and structural heart disease have been ruled out, clinicians on the front lines of emergent medical care can be faced with unexplained and recurrent life-threatening arrhythmia episodes in children and adults. In these cases, an inherited arrhythmia syndrome should be suspected, and a departure from conventional advanced cardiac life support algorithms may be required. This review focuses on the electrocardiographic clues of an inherited arrhythmia syndrome that can be uncovered through a careful analysis of the baseline electrocardiogram (ECG) and classification of the presenting ventricular arrhythmia and its mode of onset. After presenting an informed working diagnosis and an explanation of the implied electrophysiologic mechanisms, discussion provides a protocol approach to acute and subacute management decisions. Careful attention to a patient's response to treatment and its ECG surrogates have the potential to facilitate tailored therapy based on the underlying arrhythmogenic substrate and pathophysiology.

14.
JACC Clin Electrophysiol ; 5(3): 387-394, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30898243

RESUMO

OBJECTIVES: This investigation was a retrospective study of catecholaminergic polymorphic ventricular tachycardia (CPVT) patients in Canada and the Netherlands to compare pregnancy, postpartum, and nonpregnant event rates. BACKGROUND: CPVT is characterized by life-threatening arrhythmias during exertion or emotional stress. The arrhythmic risk in CPVT patients during pregnancy is unknown. METHODS: Baseline demographics, genetics, treatment, and pregnancy complications were reviewed. Event rate calculations assumed a 40-week pregnancy and 24-week postpartum period. RESULTS: Ninety-six CPVT patients had 228 pregnancies (median 2 pregnancies per patient; range: 1 to 10; total: 175.4 pregnant patient-years). The median age of CPVT diagnosis was 40.7 years (range: 12 to 84 years), with a median follow-up of 2.9 years (range: 0 to 20 years; total 448.1 patient-years). Most patients had pregnancies before CPVT diagnosis (82%). Pregnancy and postpartum cardiac events included syncope (5%) and an aborted cardiac arrest (1%), which occurred in patients who were not taking beta-blockers. Other complications included miscarriages (13%) and intrauterine growth restriction (1 case). There were 6 cardiac events (6%) during the nonpregnant period. The pregnancy and postpartum event rates were 1.71 and 2.85 events per 100 patient-years, respectively, and the combined event rate during the pregnancy and postpartum period was 2.14 events per 100 patient-years. These rates were not different from the nonpregnant event rate (1.46 events per 100 patient-years). CONCLUSIONS: The combined pregnancy and postpartum arrhythmic risk in CPVT patients was not elevated compared with the nonpregnant period. Most patients had pregnancies before diagnosis, and all patients with events were not taking beta-blockers at the time of the event.

17.
PLoS One ; 13(11): e0205925, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30403697

RESUMO

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is often a life-threatening arrhythmia disorder with variable penetrance and expressivity. Little is known about the incidence or outcomes of CPVT patients with ≥2 variants. METHODS: The phenotypes, genotypes and outcomes of patients in the Pediatric and Congenital Electrophysiology Society CPVT Registry with ≥2 variants in genes linked to CPVT were ascertained. The American College of Medical Genetics & Genomics (ACMG) criteria and structural mapping were used to predict the pathogenicity of variants (3D model of pig RyR2 in open-state). RESULTS: Among 237 CPVT subjects, 193 (81%) had genetic testing. Fifteen patients (8%) with a median age of 9 years (IQR 5-12) had ≥2 variants. Sudden cardiac arrest occurred in 11 children (73%), although none died during a median follow-up of 4.3 years (IQR 2.5-6.1). Thirteen patients (80%) had at least two RYR2 variants, while the remaining two patients had RYR2 variants plus variants in other CPVT-linked genes. Among all variants identified, re-classification of the commercial laboratory interpretation using ACMG criteria led to the upgrade from variant of unknown significance (VUS) to pathogenic/likely pathogenic (P/LP) for 5 variants, and downgrade from P/LP to VUS for 6 variants. For RYR2 variants, 3D mapping using the RyR2 model suggested that 2 VUS by ACMG criteria were P/LP, while 2 variants were downgraded to likely benign. CONCLUSIONS: This severely affected cohort demonstrates that a minority of CPVT cases are related to ≥2 variants, which may have implications on family-based genetic counselling. While multi-variant CPVT patients were at high-risk for sudden cardiac arrest, there are insufficient data to conclude that this genetic phenomenon has prognostic implications at present. Further research is needed to determine the significance and generalizability of this observation. This study also shows that a rigorous approach to variant re-classification using the ACMG criteria and 3D mapping is important in reaching an accurate diagnosis, especially in the multi-variant population.


Assuntos
Predisposição Genética para Doença , Sistema de Registros , Taquicardia Ventricular/genética , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Recém-Nascido , Masculino , Miocárdio/patologia , Domínios Proteicos , Canal de Liberação de Cálcio do Receptor de Rianodina/química , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Taquicardia Ventricular/terapia , Resultado do Tratamento
18.
Heart Rhythm ; 15(12): 1791-1799, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30063211

RESUMO

BACKGROUND: The implantable cardioverter-defibrillator (ICD) may be associated with a high risk of complications in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT). However, ICDs in this population have not been systematically evaluated. OBJECTIVE: The purpose of this study was to characterize the use and outcomes of ICDs in CPVT. METHODS: We conducted a systematic review using Embase, MEDLINE, PubMed, and Google Scholar to identify studies that included patients with CPVT who had an ICD. RESULTS: Fifty-three studies describing 1429 patients with CPVT were included. In total, 503 patients (35.2%) had an ICD (median age 15.0 years; interquartile range 11.0-21.0 years). Among ICD recipients with a reported medication status, 96.7% were prescribed ß-blockers and 13.2% flecainide. Sympathetic denervation was performed in 23.2%. Nearly half of patients received an ICD for primary prevention (47.3%), and 12.8% were prescribed optimal antiarrhythmic therapy. During follow-up, 40.1% had ≥1 appropriate shock, 20.8% experienced ≥1 inappropriate shock, 19.6% had electrical storm, and 7 patients (1.4%) died. An ICD-associated electrical storm was implicated in 4 deaths. Additional complications such as lead failure, endocarditis, or surgical revisions were observed in 96 of 296 patients (32.4%). A subanalysis of the 10 studies encompassing 330 patients with the most detailed ICD-related data showed similar trends. CONCLUSION: In this population with CPVT, ICDs were common and associated with a high burden of shocks and complications. The reliance on primary prevention ICDs, and poor uptake of adjuvant antiarrhythmic therapies, suggests that improved adherence to guideline-directed management could reduce ICD use and harm.


Assuntos
Morte Súbita Cardíaca/prevenção & controle , Desfibriladores Implantáveis , Eletrocardiografia , Taquicardia Ventricular/terapia , Humanos , Resultado do Tratamento
19.
Can J Cardiol ; 34(2): 195-201, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29407009

RESUMO

BACKGROUND: The prevalence, hospitalization patterns, and outcomes of pediatric and adolescent syncope have not been rigorously characterized. METHODS: Patients < 20 years presenting to an emergency department (ED) with a primary diagnosis of syncope (International Classification of Diseases, 10th revision, code R55) between fiscal year (FY) 2006/2007 and FY 2013/2014 in the province of Alberta, Canada were grouped according to discharge status from the ED, ie, (1) admitted to hospital and (2) discharged without admission. Temporal trends and differences in baseline characteristics, medication use, and outcomes between admitted and discharged patients were examined. RESULTS: The prevalence of syncope increased from 143/100,000 population in FY 2006/2007 to 166/100,000 population in FY 2013/2014 (P < 0.01). The majority of the 11,488 patients who presented to the ED with syncope were discharged home (n = 11,214 [98%]). Cardiac disease was present in 12.7% and thoracic conditions were present in 8% of the study population. A majority of patients (66.2% admitted and 56.4% discharged; P = 0.018) were taking a prescription drug in the year before presentation. By 30 days, 26.1% of admitted patients had a second ED presentation and 8.1% had a rehospitalization. Among discharged patients, the 30-day repeated ED presentation rate was 11.7% and the hospitalization rate was 1.1%. By 1 year, the rates of repeated ED visits increased to 64.1% and 47.5%, and rehospitalization rates increased to 21.4% and 6.8% among admitted and discharged patients, respectively. CONCLUSIONS: Our data suggest that pediatric and adolescent syncope is increasing in prevalence and represents a growing public health problem. This population has a high burden of comorbidities that likely contribute to increased health care resource use and polypharmacy.


Assuntos
Serviço Hospitalar de Emergência/estatística & dados numéricos , Síncope/epidemiologia , Adolescente , Alberta/epidemiologia , Criança , Bases de Dados Factuais , Prescrições de Medicamentos/estatística & dados numéricos , Feminino , Cardiopatias/epidemiologia , Hospitalização/estatística & dados numéricos , Humanos , Pneumopatias/epidemiologia , Masculino , Readmissão do Paciente/estatística & dados numéricos , Prevalência
20.
Forensic Sci Int ; 284: 39-45, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29331839

RESUMO

Long QT syndrome (LQTS) is the most common cardiac ion channelopathy and has been found to be responsible for approximately 10% of sudden infant death syndrome (SIDS) cases. Despite increasing use of broad panels and now whole exome sequencing (WES) in the investigation of SIDS, the probability of identifying a pathogenic mutation in a SIDS victim is low. We report a family-based study who are afflicted by recurrent SIDS in which several members harbor a variant, p.Pro963Thr, in the C-terminal region of the human-ether-a-go-go (hERG) gene, published to be responsible for cases of LQTS type 2. Functional characterization was undertaken due to the variable phenotype in carriers, the discrepancy with published cases, and the importance of identifying a cause for recurrent deaths in a single family. Studies of the mutated ion channel in in vitro heterologous expression systems revealed that the mutation has no detectable impact on membrane surface expression, biophysical gating properties such as activation, deactivation and inactivation, or the amplitude of the protective current conducted by hERG channels during early repolarization. These observations suggest that the p.Pro963Thr mutation is not a monogenic disease-causing LQTS mutation despite evidence of co-segregation in two siblings affected by SIDS. Our findings demonstrate some of the potential pitfalls in post-mortem molecular testing and the importance of functional testing of gene variants in determining disease-causation, especially where the impacts of cascade screening can affect multiple generations.


Assuntos
Canal de Potássio ERG1/genética , Mutação , Morte Súbita do Lactente/genética , Pré-Escolar , Eletrocardiografia , Feminino , Testes Genéticos , Humanos , Lactente , Síndrome do QT Longo/genética , Masculino , Linhagem , Recidiva
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