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2.
J Am Coll Cardiol ; 75(15): 1772-1784, 2020 Apr 21.
Artigo em Inglês | MEDLINE | ID: mdl-32299589

RESUMO

BACKGROUND: Andersen-Tawil Syndrome type 1 (ATS1) is a rare arrhythmogenic disorder, caused by loss-of-function mutations in the KCNJ2 gene. We present here the largest cohort of patients with ATS1 with outcome data reported. OBJECTIVES: This study sought to define the risk of life-threatening arrhythmic events (LAE), identify predictors of such events, and define the efficacy of antiarrhythmic therapy in patients with ATS1. METHODS: Clinical and genetic data from consecutive patients with ATS1 from 23 centers were entered in a database implemented at ICS Maugeri in Pavia, Italy, and pooled for analysis. RESULTS: We enrolled 118 patients with ATS1 from 57 families (age 23 ± 17 years at enrollment). Over a median follow-up of 6.2 years (interquartile range: 2.7 to 16.5 years), 17 patients experienced a first LAE, with a cumulative probability of 7.9% at 5 years. An increased risk of LAE was associated with a history of syncope (hazard ratio [HR]: 4.54; p = 0.02), with the documentation of sustained ventricular tachycardia (HR 9.34; p = 0.001) and with the administration of amiodarone (HR: 268; p < 0.001). The rate of LAE without therapy (1.24 per 100 person-years [py]) was not reduced by beta-blockers alone (1.37 per 100 py; p = 1.00), or in combination with Class Ic antiarrhythmic drugs (1.46 per 100 py, p = 1.00). CONCLUSIONS: Our data demonstrate that the clinical course of patients with ATS1 is characterized by a high rate of LAE. A history of unexplained syncope or of documented sustained ventricular tachycardia is associated with a higher risk of LAE. Amiodarone is proarrhythmic and should be avoided in patients with ATS1.

5.
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
6.
JACC Clin Electrophysiol ; 3(7): 727-743, 2017 07.
Artigo em Inglês | MEDLINE | ID: mdl-29759541

RESUMO

OBJECTIVES: This study sought to evaluate the phenotypic and functional expression of an apparent hotspot mutation associated with short QT syndrome (SQTS). BACKGROUND: SQTS is a rare channelopathy associated with a high risk of life-threatening arrhythmias and sudden cardiac death (SCD). METHODS: Probands diagnosed with SQTS and their family members were evaluated clinically and genetically. KCNH2 wild-type (WT) and mutant genes were transiently expressed in HEK293 cells, and currents were recorded using whole-cell patch clamp and action potential (AP) clamp techniques. RESULTS: KCNH2-T618I was identified in 18 members of 7 unrelated families (10 men; median age: 24.0 years). All carriers showed 100% penetrance with variable expressivity. Eighteen members in 7 families had SCD. The average QTc intervals of probands and all carriers was 294.1 ± 23.8 ms and 313.2 ± 23.8 ms, respectively. Seven carriers received an implantable cardioverter-defibrillator. Quinidine with adequate plasma levels was effective in prolonging QTc intervals among 5 cases, but 3 cases still had premature ventricular contraction or nonsustained ventricular tachycardia. Bepridil successfully prevented drug-refractory ventricular fibrillation in 1 case with 19-ms prolongation of the QTc interval. Functional studies with KCNE2 revealed a significant increase of IKr (rapidly activating delayed rectifier potassium channel) tail-current density in homozygous (119.0%) and heterozygous (74.6%) expression compared with WT. AP clamp recordings showed IKr was larger, and peak repolarizing current occurred earlier in mutant versus WT channels. CONCLUSIONS: We reported the clinical characteristics and biophysical properties of the highly frequent mutation that contributes to genetically identified SQTS probands. These findings extend our understanding of the spectrum of KCNH2 channel defects in SQTS.


Assuntos
Arritmias Cardíacas/genética , Adolescente , Adulto , Arritmias Cardíacas/patologia , Arritmias Cardíacas/fisiopatologia , Criança , Canal de Potássio ERG1/genética , Feminino , Genes/genética , Estudos de Associação Genética , Células HEK293 , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Linhagem , Adulto Jovem
7.
Kardiol Pol ; 73(12): 1339, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26727677

RESUMO

We report a three-generation family coming from southeastern region of Poland (Podkarpackie voivodship) with 6 women having normal hearts and presenting with a history of paroxysmal tachycardia with onset of symptoms in the adulthood. Recordings of clinical SVT, dual AVN electrophysiology, induction of typical AVNRT and results of RFCA are available. The history of this family shows the significance of a careful and detailed collection of medical history, and point towards the importance of family screening in AVNRT patients.


Assuntos
Linhagem , Taquicardia por Reentrada no Nó Atrioventricular/cirurgia , Adulto , Idoso de 80 Anos ou mais , Ablação por Cateter , Feminino , Humanos , Anamnese , Pessoa de Meia-Idade , Polônia , Adulto Jovem
8.
J Am Coll Cardiol ; 63(13): 1300-1308, 2014 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-24291113

RESUMO

OBJECTIVES: This study intends to gain further insights into the natural history, the yield of familial and genetic screening, and the arrhythmogenic mechanisms in the largest cohort of short QT syndrome (SQTS) patients described so far. BACKGROUND: SQTS is a rare genetic disorder associated with life-threatening arrhythmias, and its natural history is incompletely ascertained. METHODS: Seventy-three SQTS patients (84% male; age, 26 ± 15 years; corrected QT interval, 329 ± 22 ms) were studied, and 62 were followed for 60 ± 41 months (median, 56 months). RESULTS: Cardiac arrest (CA) was the most frequent presenting symptom (40% of probands; range, <1 month to 41 years). The rate of CA was 4% in the first year of life and 1.3% per year between 20 and 40 years; the probability of a first occurrence of CA by 40 years of age was 41%. Despite the male predominance, female patients had a risk profile superimposable to that of men (p = 0.49). The yield of genetic screening was low (14%), despite familial disease being present in 44% of kindreds. A history of CA was the only predictor of recurrences at follow-up (p < 0.0000001). Two patterns of onset of ventricular fibrillation were observed and were reproducible in patients with multiple occurrences of CA. Arrhythmias occurred mainly at rest. CONCLUSIONS: SQTS is highly lethal; CA is often the first manifestation of the disease with a peak incidence in the first year of life. Survivors of CA have a high CA recurrence rate; therefore, implantation of a defibrillator is strongly recommended in this group of patients.


Assuntos
DNA/genética , Eletrocardiografia , Canais de Potássio Éter-A-Go-Go/genética , Predisposição Genética para Doença , Testes Genéticos/métodos , Mutação , Adulto , Arritmias Cardíacas/epidemiologia , Arritmias Cardíacas/genética , Arritmias Cardíacas/metabolismo , Análise Mutacional de DNA , Canais de Potássio Éter-A-Go-Go/metabolismo , Feminino , Seguimentos , Frequência do Gene , Humanos , Incidência , Itália/epidemiologia , Masculino , Taxa de Sobrevida/tendências , Fatores de Tempo , Adulto Jovem
10.
Cardiol J ; 20(1): 78-82, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23558814

RESUMO

This article presents the case of a 35 year-old male with long QT syndrome (LQTS) who suffered from sudden cardiac arrest. Even though asymptomatic LQTS had been diagnosed, the patient had not undergone any medical treatment. His two daughters, aged four and seven, were also diagnosed with LQTS. A new, previously unknown, mutation of the SCN5A gene has been found in the family. The older daughter died suddenly before implantable cardioverterdefibrillator (ICD) implantation, but the father and the younger daughter have been implanted with ICDs.


Assuntos
Morte Súbita Cardíaca , Síndrome do QT Longo/genética , Síndrome do QT Longo/terapia , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Adulto , Desfibriladores Implantáveis , Eletrocardiografia , Família , Saúde da Família , Feminino , Humanos , Síndrome do QT Longo/congênito , Masculino
11.
Kardiol Pol ; 71(3): 295-9, 2013.
Artigo em Polonês | MEDLINE | ID: mdl-23575789

RESUMO

We described a case of 30 year-old woman with episodes of syncope primarily diagnosed as epilepsy, and finally recognised as long QT syndrome. Based on QTc prolongation > 600 ms in series of electrocardiograms and Holter monitoring the patient was implanted with cardioverter-defibrillator (ICD). During follow-up many appropriate ICD shocks due to ventricular fibrillation occurred.


Assuntos
Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/terapia , Síncope/etiologia , Adulto , Desfibriladores Implantáveis , Diagnóstico Diferencial , Eletrocardiografia , Eletrocardiografia Ambulatorial , Eletroencefalografia , Epilepsia/diagnóstico , Feminino , Seguimentos , Humanos , Síndrome do QT Longo/complicações
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