Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 650
Filtrar
1.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 37(3): 289-294, 2020 Mar 10.
Artigo em Chinês | MEDLINE | ID: mdl-32128746

RESUMO

Long Q-T syndrome (LQTS) is an ion channel disease of the heart featuring single gene inheritance. It is characterized by prolonged QT interval, abnormal T wave, torsade de points (TdP) on electrocardiogram, with recurrent syncope, convulsion and even sudden death. Although the overall prevalence of LQTS is not high, the disease has attracted attention of cardiologists for its high incidence of sudden cardiac death. The compilation of this guideline has referred to the consensus of basic and clinical research, guidelines of other countries, and summarized the clinical manifestations, molecular basis, diagnostic criteria, treatment and prognosis, and genetic counseling of LQTS, with an aim to standardize its clinical diagnosis and treatment.


Assuntos
Canalopatias/diagnóstico , Canalopatias/terapia , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/terapia , Guias de Prática Clínica como Assunto , Morte Súbita Cardíaca , Eletrocardiografia , Humanos , Canais Iônicos , Prognóstico
2.
Zhonghua Er Ke Za Zhi ; 57(9): 700-704, 2019 Sep 02.
Artigo em Chinês | MEDLINE | ID: mdl-31530356

RESUMO

Objective: To analyze and summarize the diagnosis and treatment experience of common inherited cardiac arrhythmia syndrome in pediatric patients, and explore the most appropriate therapy. Methods: A retrospective review identified 30 pediatric cases (19 males, 11 females) diagnosed with long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), hypertrophic cardiomyopathy (HCM), arrhythmogenc right ventricular cardiomyopathy (ARVC) from January 2008 to December 2018 in the Pediatric Cardiology Department, Guangdong Provincial People's Hospital. Data obtained included the diagnosis, treatment and follow-up outcome. Results: The most common inherited cardiac arrhythmia syndromes were LQTS (n=14) including 1 case with epilepsy, CPVT (n=5), HCM (n=7), ARVC (n=1), and BrS (n=3). Twenty-seven cases were admitted to hospital due to syncope, whereas the remaining 3 cases of BrS had not presented with syncope before admission. The average onset age of inherited arrhythmia was (10.0±3.3) years. Genetic testing was performed on 20 patients. The median follow-up time was 40 months. Among 15 patients who underwent implantable cardioverter defibrillator (ICD) and survived, 2 patients had frequent ICD discharge. One patient underwent radiofrequency ablation, and the other one received left cardiac sympathetic denervation and an increased ICD defibrillation threshold, and the number of ICD discharge was significantly reduced. Among 10 patients who received drug therapy, 4 patients including two patients who discontinued treatment without advices died. Two patients whose parents refused treatment died, 1 case diagnosed with unexplained sudden cerebral death, and the remaining 2 cases without indication for drug therapy survived without any treatment. Conclusions: Mortality rate is high in pediatric patients with inherited cardiac arrhythmia and syncope. The therapeutic effect of drugs are not satisfactory, ICD implantation is the most effective treatment to prevent sudden cardiac death currently, but the postoperative frequent discharge should be brought to the forefront and handled in time.


Assuntos
Displasia Arritmogênica Ventricular Direita/genética , Síndrome de Brugada/genética , Cardiomiopatia Hipertrófica/genética , Síndrome do QT Longo/genética , Taquicardia Ventricular/genética , Arritmias Cardíacas , Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/mortalidade , Displasia Arritmogênica Ventricular Direita/terapia , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/mortalidade , Síndrome de Brugada/terapia , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/mortalidade , Cardiomiopatia Hipertrófica/terapia , Criança , Morte Súbita Cardíaca , Desfibriladores Implantáveis , Feminino , Seguimentos , Testes Genéticos , Humanos , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/mortalidade , Síndrome do QT Longo/terapia , Masculino , Estudos Retrospectivos , Síncope , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/mortalidade , Taquicardia Ventricular/terapia , Resultado do Tratamento
3.
J Stroke Cerebrovasc Dis ; 28(11): 104308, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31416760

RESUMO

Stroke involving some areas of the cerebral hemisphere, such as insula, amygdala, and lateral hypothalamus, may cause changes in autonomic control of cardiac function. A 58-year-old woman presented to the emergency department for acute onset of left facial-brachial-crural hemiparesis and dysarthria. A brain CT scan showed subacute ischemic lesion with hemorrhagic infarction in right insular-rolandic cortex. Over the next few days ECG showed severe bradycardia with elongation of QTc, significative pauses (5 seconds), runs of nonsustained ventricular tachycardia and torsades de pointes. Drug induced and other several possible causes of elongation of QT and bradycardia such as hypokalemia, a history of heart failure, and structural heart disease were ruled out. The case confirms that insular cortex plays a major role in stroke-induced cardiovascular changes.


Assuntos
Córtex Cerebral/irrigação sanguínea , Sistema de Condução Cardíaco/fisiopatologia , Frequência Cardíaca , Síndrome do QT Longo/etiologia , Acidente Vascular Cerebral/complicações , Torsades de Pointes/etiologia , Potenciais de Ação , Bradicardia/etiologia , Bradicardia/fisiopatologia , Estimulação Cardíaca Artificial , Córtex Cerebral/diagnóstico por imagem , Feminino , Humanos , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/fisiopatologia , Síndrome do QT Longo/terapia , Pessoa de Meia-Idade , Marca-Passo Artificial , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/fisiopatologia , Acidente Vascular Cerebral/terapia , Taquicardia Ventricular/etiologia , Taquicardia Ventricular/fisiopatologia , Torsades de Pointes/diagnóstico , Torsades de Pointes/fisiopatologia , Torsades de Pointes/terapia , Resultado do Tratamento
4.
A A Pract ; 13(7): 245-249, 2019 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-31162228

RESUMO

Ventricular tachycardia (VT) storm, defined as recurrent VT requiring electrical cardioversion ≥3 times within 24 hours, is a rare presentation of long-QT syndrome. Pharmacologic autonomic modulation and/or left cardiac sympathetic denervation are established therapies in long-QT syndrome in adults but may not be effective or practical in the emergent treatment of VT storm. We present a novel case of a child with drug-refractory VT storm and prolonged QT requiring extracorporeal membrane oxygenation (ECMO) support. Continuous stellate ganglion blockade was remarkably effective in stabilizing his rhythm and should be considered in similar pediatric cases.


Assuntos
Síndrome do QT Longo/terapia , Gânglio Estrelado/cirurgia , Taquicardia Ventricular/terapia , Cateterismo , Criança , Oxigenação por Membrana Extracorpórea , Humanos , Masculino , Resultado do Tratamento
5.
Pediatrics ; 144(1)2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31167936

RESUMO

We present the case of a girl aged 17 years and 10 months who has a strong family history of long QT syndrome and genetic testing confirming the diagnosis of long QT syndrome in the patient also. She was initially medically treated with ß-blocker therapy; however, after suffering 1 episode of syncope during exertion, she underwent placement of an implantable cardioverter defibrillator. Since then, she has never had syncope. However, during the few months before this presentation, she experienced shocks on multiple occasions without any underlying arrhythmias. These shocks are disconcerting for her, and she is having significant anxiety about them. She requests the defibrillator to be inactivated. However, her mother, who also shares the diagnosis of long QT syndrome, disagrees and wants the defibrillator to remain active. The ethics team is consulted in this setting of disagreement between an adolescent, who is 2 months shy of the age of maturity and medical decision-making, and her mother, who is currently responsible for her medical decisions. The question for the consultation is whether it would be ethically permissible for the doctors to comply with the patient's request to turn off the defibrillator or whether the doctors should follow the mother's wishes until the patient is 18 years of age.


Assuntos
Desfibriladores Implantáveis/ética , Consentimento Informado por Menores/ética , Síndrome do QT Longo/terapia , Consentimento dos Pais/ética , Participação do Paciente , Adolescente , Fatores Etários , Desfibriladores Implantáveis/efeitos adversos , Desfibriladores Implantáveis/psicologia , Feminino , Humanos , Consentimento Informado por Menores/psicologia , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/psicologia , Relações Mãe-Filho/psicologia , Consentimento dos Pais/psicologia , Participação do Paciente/psicologia , Relações Médico-Paciente/ética , Relações Profissional-Família/ética
7.
Prog Cardiovasc Dis ; 62(3): 227-234, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31078562

RESUMO

Sudden cardiac death (SCD) accounts for 230,000 to 350,000 deaths per year in the United States. While many who suffer SCD possess underlying structural heart disease, inherited arrhythmia syndromes are also important contributors to SCD. In patients without structural heart disease, inherited arrhythmia syndromes are identified in >50% of the remaining patients. In this review, we will focus on the presentation and management of three major inherited syndromes that lead to SCD in patients without structural heart disease: long QT syndrome (LQTS), Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT). All these syndromes can present in patients who are asymptomatic or, at the other extreme, with syncope and even SCD. LQTS syndrome and Brugada are the most common inherited arrhythmogenic syndromes, while CPVT is much rarer. Determining which patients need pharmacologic treatment and those who would benefit from more aggressive treatment such as sympathectomies and implantable defibrillators is not always clear.


Assuntos
Síndrome de Brugada , Morte Súbita Cardíaca/etiologia , Síndrome do QT Longo , Taquicardia Ventricular , Síndrome de Brugada/complicações , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/terapia , Desfibriladores Implantáveis , Eletrocardiografia , Humanos , Síndrome do QT Longo/complicações , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/terapia , Medição de Risco , Taquicardia Ventricular/complicações , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/terapia
9.
Pediatrics ; 143(Suppl 1): S33-S36, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30600269

RESUMO

Ethical controversies may arise when genome sequencing reveals a genetic variant that is thought to be pathogenic, but the patient has no symptoms. This could be due to variable penetrance or expressivity. It could also result from a misclassification of the gene as pathogenic. In this article, I analyze 2 possibilities when such a situation occurs. The first is straightforward. We could conclude that the sequencing results should be considered a "false-positive" test result. The second is a bit more counterintuitive. In some cases, we could consider the test result to be a true-positive but in way that has not yet led to phenotypic findings. Somewhat playfully, we imagine that, in such cases, we could consider the patient's phenotype to be falsely negative. Sometimes, as odd as it seems, we act is if that is what we believe.


Assuntos
Doenças Assintomáticas , Reações Falso-Negativas , Testes Genéticos/ética , Variação Genética , Fenótipo , Cardiomiopatia Hipertrófica Familiar/diagnóstico , Cardiomiopatia Hipertrófica Familiar/genética , Desfibriladores Implantáveis , Humanos , Leucodistrofia de Células Globoides/diagnóstico , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/terapia , Programas de Rastreamento , Penetrância , Sequenciamento Completo do Genoma
10.
Curr Opin Cardiol ; 34(1): 46-56, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30394905

RESUMO

PURPOSE OF REVIEW: Our purpose is to provide an update on the new clinical and genetic aspects of long QT syndrome (LQTS). LQTS is the most common channelopathy and a cause of syncope and sudden death in the young. Although there are 17 types of LQTS, most patients have types 1 or 2 which are due to mutations in KCNQ1 and KCNH2 (encoding for the cardiac potassium channels), and type 3 which is due to a mutation in SCN5A (encoding for the sodium channel). LQTS is characterized by incomplete penetrance and variable expressivity. Significant data exist concerning the common types of LQTS and include mutational location, biophysical function, gene-specific triggers, and disease modifiers that are known and help characterize the disease. RECENT FINDINGS: Recent studies support the use of ß-blockers in LQTS. Nadolol and propranolol are superior likely because of their sodium channel blocking effects. There are recent data supporting the use of ß-blockers in LQTS type 3 in which their use was once discouraged. There are increasing data that left cardiac sympathetic denervation is effective in LQTS and should be considered before an implantable cardioverter defibrillator is implanted. SUMMARY: LQTS is a model for effective collaboration between clinicians and basic scientists and between cardiologists and geneticists. Recent advances in the derivation of induced pluripotent stem cells from LQTS patients and creation of genetically engineered human models using clusters of regularly interspaced palindromic repeats (CRISPR/Cas9) will advance translational arrhythmia research and move us toward the goal of personalized medicine.


Assuntos
Canal de Potássio KCNQ1 , Síndrome do QT Longo , Medicina de Precisão , Antagonistas Adrenérgicos beta/uso terapêutico , Canal de Potássio ERG1/genética , Canais de Potássio Éter-A-Go-Go , Humanos , Canal de Potássio KCNQ1/genética , Síndrome do QT Longo/genética , Síndrome do QT Longo/terapia , Mutação
11.
Curr Probl Cardiol ; 44(3): 92-106, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29784533

RESUMO

Long QT syndrome (LQT) represents a heterogeneous family of cardiac electrophysiologic disorders characterized by QT prolongation and T-wave abnormalities on the electrocardiogram. It is commonly associated with syncope, however, sudden cardiac death can occur due to torsades de pointes. LQT is a clinical diagnosis and should be suspected in individuals on the basis of clinical presentation, family history and ECG characteristics. Management is focused on the prevention of syncope and ultimately sudden death. Complete cessation of symptoms is the goal. Life-style modification, beta blockers and ICD implantation are the most important therapeutic modalities in proper management of patients with LQT. Awareness should be raised regarding possible circumstances that could increase the risk of QT prolongation. Advanced age, hypokalemia, a history of heart failure, and structural heart disease are often mentioned in this context. Prudent consideration is needed before making a decision to recommend an ICD implantation in a young, active patient. Medical and/or device therapy still represent important therapeutic modalities in the management of patients with LQT with careful clinical judgement for the substrate of patients who will benefit. Insights from benchside to bedside have facilitated progress toward better therapeutic strategies, there also remains a need for tailoring management toward individuals in a mechanism-specific manner to optimize care. In addition, continued progress toward fundamental understanding of mechanisms of ion channel function and drug-channel interaction will guide the development of more effective, mechanism-based molecular agents in the treatment of LQT.


Assuntos
Morte Súbita Cardíaca/prevenção & controle , Gerenciamento Clínico , Técnicas Eletrofisiológicas Cardíacas/métodos , Síndrome do QT Longo , Morte Súbita Cardíaca/etiologia , Humanos , Síndrome do QT Longo/classificação , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/fisiopatologia , Síndrome do QT Longo/terapia
12.
Hong Kong Med J ; 24(6): 561-570, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30530868

RESUMO

INTRODUCTION: Congenital long QT syndrome (LQTS) is a genetically transmitted cardiac channelopathy that can lead to sudden cardiac death. This study aimed to report the clinical and genetic characteristics of all young patients diagnosed with LQTS in the only tertiary paediatric cardiology centre in Hong Kong. METHODS: This is a retrospective review of all paediatric and young adult patients diagnosed at our centre with LQTS from January 1997 to December 2016. The diagnosis of LQTS was established with a corrected QT interval (QTc) ≥480 ms, Schwartz score of >3 points, or the presence of a pathogenic mutation. RESULTS: Fifty-nine patients (33 males) from 52 families were included, with a mean age of 8.17 years (range, 0.00-16.95 years) at presentation. Five patients had concomitant congenital heart diseases. The mean follow-up duration was 5.33 ± 4.65 years. The mean QTc in the cohort was 504 ± 47 ms. They presented with syncope and convulsion (49%), cardiac arrest (10%), bradycardia and neonatal atrioventricular block (12%). Fifteen (25%) patients were asymptomatic at diagnosis. Thirty-eight (64.4%) patients were confirmed to have a pathogenic mutation for LQTS genes. Forty-five (76.3%) patients received beta blocker therapy. Thirteen (22.0%) patients required implantable cardioverter defibrillator. There was no mortality in the study period. The 1-, 5-, and 10-year breakthrough cardiac event-free rates were 93.0%, 80.7%, and 72.6%, respectively. CONCLUSION: Identification of the disorder, administration of beta blockers, and lifestyle modification can prevent subsequent cardiac events in LQTS. Genotyping in patients with LQTS is essential in guiding medical therapy and improving prognosis.


Assuntos
Antagonistas Adrenérgicos beta/uso terapêutico , Desfibriladores Implantáveis , Cardiopatias Congênitas/epidemiologia , Síndrome do QT Longo/congênito , Adolescente , Adulto , Criança , Pré-Escolar , Eletrocardiografia , Feminino , Seguimentos , Hong Kong/epidemiologia , Humanos , Lactente , Recém-Nascido , Síndrome do QT Longo/genética , Síndrome do QT Longo/terapia , Masculino , Prognóstico , Estudos Retrospectivos , Síncope/epidemiologia , Adulto Jovem
13.
Kardiol Pol ; 76(12): 1687-1696, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30251242

RESUMO

BACKGROUND: Implantable cardioverter-defibrillator (ICD) therapy has been proven effective in the prevention of sudden cardiac death, but data on outcomes of ICD therapy in the young and otherwise healthy patients with long QT syndrome (LQTS) are limited. AIM: We sought to collect data on appropriate and inappropriate ICD discharges, risk factors, and ICD-related complications. METHODS: All LQTS patients implanted with an ICD in 14 centres were investigated. Demographic, clinical, and ICD therapy data were collected. RESULTS: The study included 67 patients (88% female). Median age at ICD implantation was 31 years (12-77 years). ICD indication was based on resuscitated cardiac arrest in 46 patients, syncope in 18 patients, and malignant family history in three patients. During a median follow-up of 48 months, 39 (58%) patients received one or more ICD therapies. Time to first appropriate discharge was up to 55 months. Inappropriate therapies were triggered by fast sinus rhythm, atrial fibrillation, and T-wave oversensing. No predictors of inappropriate shocks were identified. Risk factors for appropriate ICD therapy were: (1) recurrent syncope despite b-blocker treatment before ICD implantation, (2) pacemaker therapy before ICD implantation, (3) single-chamber ICD, and (4) noncompliance to b-blockers. In 38 (57%) patients, at least one complication occurred. CONCLUSIONS: ICD therapy is effective in nearly half the patient population; however, the rates of early and late complica-tions are high. Although the number of unnecessary ICD shocks and reimplantation procedures may be lowered by modern programming and increased longevity of newer ICD generators, other adverse events are less likely to be reduced.


Assuntos
Fibrilação Atrial/terapia , Morte Súbita Cardíaca/prevenção & controle , Desfibriladores Implantáveis/estatística & dados numéricos , Síndrome do QT Longo/terapia , Adolescente , Adulto , Idoso , Fibrilação Atrial/complicações , Cardiomiopatia Hipertrófica/complicações , Morte Súbita Cardíaca/etiologia , Desfibriladores Implantáveis/efeitos adversos , Eletrocardiografia , Feminino , Seguimentos , Humanos , Síndrome do QT Longo/complicações , Masculino , Pessoa de Meia-Idade , Adulto Jovem
14.
JACC Clin Electrophysiol ; 4(4): 459-466, 2018 04.
Artigo em Inglês | MEDLINE | ID: mdl-30067485

RESUMO

OBJECTIVES: The objective of this study was to evaluate contemporary clinical outcomes and identify triggers for arrhythmias or sudden death in an international cohort of Timothy Syndrome (TS) patients including those with novel TS-associated CACNA1C mutations. BACKGROUND: TS is an extremely rare genetic disorder of the L-type cardiac channel Cav1.2 encoded by CACNA1C. The syndrome is characterized by multisystem abnormalities consisting of QT prolongation, congenital heart defects, syndactyly, facial dysmorphism, and neurological symptoms. METHODS: Patients diagnosed with TS between January 1, 1994, and April 1, 2016, from 12 international tertiary care pediatric centers were included in this retrospective study. Data were gathered via survey from the patients' electrophysiologists. RESULTS: Seventeen patients diagnosed with TS were identified. Length of follow-up was 4.9 years (range 3.0 to 19.0 years). Mean QTc was 640 ms (range 500 to 976 ms). All patients were treated with beta-blockers; 13 patients (76%) were also treated with an implantable defibrillator. Eleven patients experienced an episode of aborted cardiac arrest, 6 associated with general anesthesia and 2 with hypoglycemia. Four patients died suddenly due to ventricular fibrillation, 2 of whom had associated hypoglycemia. CONCLUSIONS: This study shows that mortality in TS patients is due to multifactorial mechanisms, which include ventricular arrhythmias, pulseless electrical activity, and hypoglycemia. A simple nomenclature for ongoing studies of TS and related syndromes is described. A worldwide prospective registry is needed for continued exploration of this syndrome.


Assuntos
Transtorno Autístico , Síndrome do QT Longo , Sindactilia , Adolescente , Adulto , Antiarrítmicos/uso terapêutico , Transtorno Autístico/diagnóstico , Transtorno Autístico/epidemiologia , Transtorno Autístico/mortalidade , Transtorno Autístico/terapia , Criança , Pré-Escolar , Morte Súbita Cardíaca , Desfibriladores Implantáveis , Eletrocardiografia , Feminino , Humanos , Hipoglicemia , Lactente , Recém-Nascido , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/epidemiologia , Síndrome do QT Longo/mortalidade , Síndrome do QT Longo/terapia , Masculino , Estudos Retrospectivos , Sindactilia/diagnóstico , Sindactilia/epidemiologia , Sindactilia/mortalidade , Sindactilia/terapia , Fibrilação Ventricular , Adulto Jovem
15.
Int J Cardiol ; 268: 132-136, 2018 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-30041777

RESUMO

BACKGROUND: Long QT syndrome (LQTS) is a potentially lethal cardiac channelopathy, but with the appropriate treatment strategy, such as beta-blockers, left cardiac sympathetic denervation (LCSD), and/or an implantable cardioverter defibrillator (ICD), most LQTS-triggered tragedies can be avoided. Since 2001, wearable cardioverter defibrillators (WCD:LifeVest™) have been available clinically. OBJECTIVE: Herein, we evaluated the use and outcome of WCDs in patients with LQTS. METHODS: We performed a retrospective review of 1027 patients with LQTS to identify patients who received a WCD, and collected pertinent clinical information regarding their LQTS diagnosis as well as indication and experience regarding use of the WCD. RESULTS: Overall, 10 LQTS patients (1%, 8 females, age at diagnosis 29 ±â€¯18 years, mean QTc 488 ±â€¯34 ms) were prescribed a WCD. Most common indication for WCD was as bridge to treatment during (temporary) situation of assessed high risk of sudden cardiac arrest (SCA; n = 6). The mean time of WCD use was 24 days (range 0 to 114 days). One patient (female, age 42, LQT2) received an appropriate VF-terminating shock 2 days after receiving her WCD. No inappropriate treatments or adverse events from wearing the WCD have occurred. CONCLUSIONS: A WCD can be considered in patients with LQTS deemed to be at high risk for SCA while up-titrating beta blockers, considering ICD therapy, or when navigating short term periods of increased SCA-risk, like the post-partum period in LQT2 women, ICD revision or temporary inactivation, or during short term administration of known QT prolonging medications.


Assuntos
Desfibriladores Implantáveis/tendências , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/terapia , Dispositivos Eletrônicos Vestíveis/tendências , Adolescente , Adulto , Idoso , Desfibriladores Implantáveis/efeitos adversos , Desfibriladores Implantáveis/normas , Feminino , Humanos , Síndrome do QT Longo/fisiopatologia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Dispositivos Eletrônicos Vestíveis/efeitos adversos , Dispositivos Eletrônicos Vestíveis/normas , Adulto Jovem
17.
JACC Clin Electrophysiol ; 4(5): 569-579, 2018 05.
Artigo em Inglês | MEDLINE | ID: mdl-29798782

RESUMO

SCN5A gene encodes the pore-forming ion-conducting α-subunit of the cardiac sodium channel (Nav1.5), which is responsible for the initiation and propagation of action potentials and thereby determines cardiac excitability and conduction of electrical stimuli through the heart. The importance of Nav1.5 for normal cardiac electricity is reflected by various disease entities that can be caused by mutations in SCN5A. Gain-of-function mutations in SCN5A lead to more sodium influx into cardiomyocytes through aberrant channel gating and cause long QT syndrome, a primary electrical disease of the heart. Loss-of-function mutations in SCN5A lead to lower expression levels of SCN5A or production of defective Nav1.5 proteins and cause Brugada syndrome, an electrical disease with minor structural changes in the heart. In addition, both loss- and gain-of-function mutations may cause dilated cardiomyopathy, which is an arrhythmogenic disease with gross structural defects of the left ventricle (and sometimes both ventricles). Other SCN5A-related diseases are multifocal ectopic premature Purkinje-related complexes (gain-of-function mutations), isolated cardiac conduction defect (loss-of-function mutations), sick sinus syndrome (loss-of-function mutations), atrial fibrillation (loss-of-function or gain-of-function mutations), and overlap syndromes (mutations with both loss-of-function and gain-of-function effects). Growing insights into the role of SCN5A in health and disease has enabled clinicians to lay out gene-specific risk stratification schemes and mutation-specific diagnostic and therapeutic strategies in the management of patients with a SCN5A mutation. This review summarizes currently available knowledge about the pathophysiological mechanisms of SCN5A mutations and describes how this knowledge can be used to manage patients suffering from potentially lethal cardiac diseases.


Assuntos
Síndrome de Brugada , Cardiomiopatias , Síndrome do QT Longo , Canal de Sódio Disparado por Voltagem NAV1.5 , Síndrome de Brugada/genética , Síndrome de Brugada/fisiopatologia , Síndrome de Brugada/terapia , Cardiomiopatias/genética , Cardiomiopatias/fisiopatologia , Cardiomiopatias/terapia , Humanos , Síndrome do QT Longo/genética , Síndrome do QT Longo/fisiopatologia , Síndrome do QT Longo/terapia , Mutação/genética , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Canal de Sódio Disparado por Voltagem NAV1.5/metabolismo , Canal de Sódio Disparado por Voltagem NAV1.5/fisiologia
18.
J Electrocardiol ; 51(3): 366-369, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29779524

RESUMO

We present a case series of five patients reporting abnormal automatic mode switching (AMS) episodes during routinary cardiac defibrillator (ICD) and pacemaker (PM) follow-up. This non-previously described phenomenon was reported to St. Jude Medical (Abbott) Technical Support that confirmed the inappropriate automatic mode switching.


Assuntos
Estimulação Cardíaca Artificial , Desfibriladores Implantáveis , Síndrome do QT Longo/terapia , Síndrome do Nó Sinusal/terapia , Taquicardia Ventricular/terapia , Adulto , Idoso , Técnicas Eletrofisiológicas Cardíacas , Feminino , Humanos , Síndrome do QT Longo/fisiopatologia , Masculino , Pessoa de Meia-Idade , Síndrome do Nó Sinusal/fisiopatologia , Taquicardia Ventricular/fisiopatologia
20.
Int Heart J ; 59(2): 417-419, 2018 Mar 30.
Artigo em Inglês | MEDLINE | ID: mdl-29445055

RESUMO

A 17-year-old woman was resuscitated from cardiac arrest due to ventricular fibrillation and was diagnosed with concealed long QT syndrome. She underwent subcutaneous implantable cardiac defibrillator (S-ICD) implantation at our hospital. The device electrogram immediately after implantation was normal. Four days after implantation, she received an inappropriate shock. The device interrogation revealed a continuous baseline shift and frequent oversensing for low amplitude signals, followed by a shock. A chest radiograph in the orthogonal view showed entrapped subcutaneous air surrounding the distal electrode. Entrapped subcutaneous air can cause inappropriate shocks in the early period after S-ICD implantation.


Assuntos
Desfibriladores Implantáveis/efeitos adversos , Falha de Equipamento , Síndrome do QT Longo/terapia , Enfisema Subcutâneo/etiologia , Fibrilação Ventricular/terapia , Adolescente , Feminino , Humanos , Síndrome do QT Longo/fisiopatologia , Enfisema Subcutâneo/diagnóstico , Fatores de Tempo , Fibrilação Ventricular/fisiopatologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA