RESUMO
BACKGROUND: Mitral valve prolapse (MVP) is the most common primary valvular abnormality in a young population. In some individuals, MVP is silent or associated with palpitations, dizziness, chest pain, and abnormal electrocardiogram (ECG) repolarization with or without ventricular arrhythmias. HYPOTHESIS: The aim of the present study was to assess the occurrence of the clinical and electrocardiographic abnormalities in young athletes with silent MVP. METHODS: A group of 10 children, who have been sport training intensively, with preparticipation silent MVP were examined for symptoms and/or ECG abnormalities. The diagnosis of MVP was made by echocardiography. RESULTS: Three athletes were asymptomatic at initial presentation. The other 7 athletes presented with symptoms. The QTc intervals > 440 msec were recorded in 2 athletes (1 with syncope). Abnormal ECG repolarization was found in 7 athletes (4 athletes were symptomatic and 3 were asymptomatic). A large variety of T-waves was registered in athletes who presented with symptoms. In asymptomatic athletes, the tall and flat T-waves were recorded. CONCLUSIONS: Young athletes with MVP are often predisposed to electrocardiographic abnormalities of ventricular repolarization, which requires annual cardiologic evaluation.
Assuntos
Arritmias Cardíacas/etiologia , Morte Súbita Cardíaca/etiologia , Eletrocardiografia , Prolapso da Valva Mitral/diagnóstico , Esportes , Potenciais de Ação , Adolescente , Fatores Etários , Arritmias Cardíacas/fisiopatologia , Dor no Peito/etiologia , Dor no Peito/fisiopatologia , Criança , Ecocardiografia Doppler , Fadiga/etiologia , Fadiga/fisiopatologia , Feminino , Cefaleia/etiologia , Cefaleia/fisiopatologia , Ventrículos do Coração/fisiopatologia , Humanos , Cinética , Masculino , Prolapso da Valva Mitral/complicações , Prolapso da Valva Mitral/fisiopatologia , Valor Preditivo dos Testes , Síncope/etiologia , Síncope/fisiopatologiaRESUMO
We describe the clinical and genetic characteristics of the family, in which the diagnosis of LQT1 had been made. The electrocardiogram (ECG) characteristics of this patient indicated the likelihood of LQTS1. Polymorphic ventricular extrasystolies and episodes of polymorphic non-sustained ventricular tachycardia were confirmed by Holter ECG monitoring. On the exertional electrocardiogram polymorphic ventricular tachycardia (torsade de pointes) was recorded. Direct sequencing of both DNA strands revealed the absence of mutations or polymorphisms in the KCNQ1, HERG, and SCN5A genes.
Assuntos
Eletrocardiografia/métodos , Testes Genéticos/métodos , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/genética , Adolescente , Adulto , Criança , Diagnóstico Diferencial , Feminino , Predisposição Genética para Doença/genética , HumanosRESUMO
Arrhythmogenic right ventricular dysplasia (ARVD) is a complex arrhythmogenic cardiomyopathy, characterized by a partial or total replacement of the right ventricular myocytes by fatty and fibrous tissue. In this study, we present a case of ARVD in 17 year old girl, who was admitted to the hospital after syncope with ventricular arrhythmia. The echocardiography did not demonstrate structural cardiac abnormalities but the magnetic resonance recently showed thinning of the right ventricular wall. The girl was treated with the lidocaine, amiodarone and next, after radiofrequency catheter ablation she was receiving metoprolol. The girl has remained asymptomatic for four years of follow-up.
Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/terapia , Adolescente , Amiodarona/uso terapêutico , Antiarrítmicos/uso terapêutico , Ablação por Cateter , Terapia Combinada , Diagnóstico Diferencial , Ecocardiografia , Eletrocardiografia , Feminino , Humanos , Lidocaína/uso terapêutico , Imageamento por Ressonância Magnética , Metoprolol/uso terapêuticoAssuntos
Cardiomiopatias/genética , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/genética , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/genética , Aciltransferases , Cardiomiopatias/diagnóstico , Cardiomiopatias/tratamento farmacológico , Pré-Escolar , Cromossomos Humanos/genética , Proteínas Associadas à Distrofina/genética , Feminino , Seguimentos , Doenças Genéticas Inatas/tratamento farmacológico , Doenças Genéticas Inatas/fisiopatologia , Cardiopatias Congênitas/tratamento farmacológico , Cardiopatias Congênitas/fisiopatologia , Insuficiência Cardíaca/tratamento farmacológico , Insuficiência Cardíaca/fisiopatologia , Humanos , Lactente , Íntrons/genética , Lamina Tipo A/genética , Masculino , Mutação de Sentido Incorreto , Proteínas/genética , Sítios de Splice de RNA/genética , RNA Mensageiro/genética , Proteína 1A de Ligação a Tacrolimo/genética , Fatores de Transcrição/genéticaRESUMO
Isolated non-compaction of the ventricular myocardium (INVM), sometimes referred to as 'spongy myocardium', is a congenital and exceedingly rare cardiomyopathy. Isolated ventricular non-compaction occurs in the absence of other structural heart diseases and, hypothetically, it is due to the arrest of myocardial morphogenesis. Isolated non-compaction of the ventricular myocardium may manifest itself from infancy to young adulthood with a high mortality rate. Both sexes are affected. In our study, we present a case of INVM (left and right ventricles) in a 3-year-old girl, diagnosed by two-dimensional echocardiography. The anomaly presented as a restrictive cardiomyopathy. The girl was admitted to our hospital with heart failure, when she was 10 months old. She was treated with dopamine, digoxin, furosemide, spironolactone, and acenocoumarol and her condition improved. Presently, the girl remains asymptomatic and for 3 years of follow-up, her development has been almost normal. We here describe the genetic background of this disorder (based on a literature review).
