RESUMO
A very recent study suggested that HCN4 mutations could be associated with sinusal bradycardia and myocardial non compaction. A French family with 3 affected sisters presenting the same clinical phenotype (sinus bradycardia in combination with non compaction cardiomyopathy (NCCM)) have benefited both from a systematic cardiovascular exploration and molecular investigations. The molecular analysis, performed by NGS sequencing, led to identify only one likely-disease causing variation: p.Gly482Arg on HCN4 gene. Our results confirm the genetic evidence for the involvement of the HCN4 mutations in the combined bradycardia-NCCM phenotype and illustrates that, in front of this combined clinical phenotype, HCN4 mutations has to be suspected.
Assuntos
Bradicardia/genética , Cardiomiopatias/genética , Canais Disparados por Nucleotídeos Cíclicos Ativados por Hiperpolarização/genética , Proteínas Musculares/genética , Canais de Potássio/genética , Adolescente , Sequência de Bases , Criança , Feminino , Testes Genéticos , Humanos , Canais Disparados por Nucleotídeos Cíclicos Ativados por Hiperpolarização/metabolismo , Dados de Sequência Molecular , Proteínas Musculares/metabolismo , Mutação , Fenótipo , Canais de Potássio/metabolismo , Adulto JovemRESUMO
BACKGROUND: The purpose of this study was to assess the value of technetium 99m sestamibi gated single photon emission computed tomography (SPECT) in predicting the evolution of left ventricular volumes in patients treated successfully in the acute phase of a myocardial infarction (MI). METHODS AND RESULTS: Twenty-nine patients with acute MI and early percutaneous transluminal coronary angioplasty (PTCA) were included in this study. A rest Tc-99m sestamibi electrocardiography (ECG)-gated SPECT study was performed 21 +/- 5 days after PTCA. The myocardial perfusion index was calculated by use of a semiautomatic sectorial analysis. All patients had contrast ventriculography performed during the acute phase and 6 months later. The patients were separated into two groups according to the absence (group I, n = 21) or presence (group II, n = 8) of end-systolic enlargement. The perfusion index in the infarct sectors was -2.29 +/- 2.90 SD in group I and -6.40 +/- 2.85 SD in group II ( P < .01). With a cutoff value of -2.46 SD, the sensitivity and specificity of Tc-99m sestamibi SPECT for the prediction of end-systolic volume enlargement were 100% and 62%, respectively. When the functional data from ECG-gated acquisitions were added, specificity increased to 86%. CONCLUSIONS: Despite successful PTCA in the acute phase of MI, an increase in end-systolic volume was observed at 6 months in 28% of patients. Tc-99m sestamibi ECG-gated SPECT performed 3 weeks after the acute phase could predict this enlargement with a high accuracy.
Assuntos
Angioplastia com Balão , Infarto do Miocárdio/diagnóstico por imagem , Infarto do Miocárdio/cirurgia , Tecnécio Tc 99m Sestamibi , Disfunção Ventricular Esquerda/diagnóstico por imagem , Disfunção Ventricular Esquerda/cirurgia , Remodelação Ventricular , Feminino , Imagem do Acúmulo Cardíaco de Comporta/métodos , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/complicações , Infarto do Miocárdio/diagnóstico , Necrose/diagnóstico por imagem , Necrose/etiologia , Prognóstico , Compostos Radiofarmacêuticos , Reprodutibilidade dos Testes , Descanso , Sensibilidade e Especificidade , Índice de Gravidade de Doença , Sobrevivência de Tecidos , Tomografia Computadorizada de Emissão de Fóton Único/métodos , Resultado do Tratamento , Disfunção Ventricular Esquerda/etiologiaRESUMO
The prevalence of coronary artery abnormalities, in particular the single vessel form, is low among the general population. We report a case of a transluminal angioplasty of the left anterior descending artery arising from the right coronary artery during the acute phase of myocardial infarction.