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1.
Circulation ; 120(4): 278-85, 2009 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-19597050

RESUMO

BACKGROUND: Cardiac arrest without evident cardiac disease may be caused by subclinical genetic conditions. Provocative testing to unmask a phenotype is often necessary to detect primary electrical disease, direct genetic testing, and perform family screening. METHODS AND RESULTS: Patients with apparently unexplained cardiac arrest and no evident cardiac disease (normal cardiac function on echocardiogram, no evidence of coronary artery disease, and a normal ECG) underwent systematic evaluation that included cardiac magnetic resonance imaging, signal-averaged ECG, exercise testing, drug challenge, and selective electrophysiological testing. Diagnostic criteria were based on accepted criteria or provocation of the characteristic clinical features for long-QT syndrome, catecholaminergic polymorphic ventricular tachycardia, Brugada syndrome, early repolarization, arrhythmogenic right ventricular cardiomyopathy, coronary spasm, and myocarditis. Sixty-three patients in 9 centers were enrolled (age 43.0+/-13.4 years, 29 women). A diagnosis was obtained in 35 patients (56%): Long-QT syndrome in 8, catecholaminergic polymorphic ventricular tachycardia in 8, arrhythmogenic right ventricular cardiomyopathy in 6, early repolarization in 5, coronary spasm in 4, Brugada syndrome in 3, and myocarditis in 1. Targeted genetic testing demonstrated evidence of causative mutations in 9 (47%) of 19 patients. Screening of 64 family members of these patients identified 15 affected individuals who were treated (24%). The remaining 28 patients (44%) were considered to have idiopathic ventricular fibrillation. CONCLUSIONS: Systematic clinical testing, including drug provocation and advanced imaging, results in unmasking of the cause of apparently unexplained cardiac arrest in >50% of patients. This approach assists in directing genetic testing to diagnose genetically mediated arrhythmia syndromes, which results in successful family screening.


Assuntos
Parada Cardíaca/classificação , Parada Cardíaca/etiologia , Sistema de Registros , Volume Sistólico , Sobreviventes , Adolescente , Adulto , Idoso , Angiografia Coronária/métodos , Feminino , Parada Cardíaca/diagnóstico por imagem , Parada Cardíaca/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Volume Sistólico/fisiologia , Adulto Jovem
2.
EDTNA ERCA J ; 23(2): 11-3, 1997.
Artigo em Inglês | MEDLINE | ID: mdl-9663987

RESUMO

For over two decades kidney transplantation has been the treatment of choice for end-stage renal disease. Better immunosuppressive drugs with less side effects, superior infection control and sensitive methods detecting rejection episodes in an early phase are to be credited for these transplantation results. Besides improving quality of life of the recipient, kidney transplantation compared to dialysis is cost-effective.


Assuntos
Transplante de Rim , Doadores de Tecidos/estatística & dados numéricos , Obtenção de Tecidos e Órgãos/organização & administração , Análise Custo-Benefício , Parada Cardíaca/classificação , Humanos , Falência Renal Crônica/psicologia , Falência Renal Crônica/cirurgia , Transplante de Rim/economia , Transplante de Rim/psicologia , Países Baixos , Qualidade de Vida
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