RESUMO
Transposition of the great arteries (TGA) is a congenital heart defect with a complex pathogenesis that has not been fully elucidated. In this study, we performed whole-exome sequencing (WES) in isolated TGA-diagnosed patients and analyzed genes of motile and non-motile cilia ciliogenesis and ciliary trafficking, as well as genes previously associated with this heart malformation. Deleterious missense and splicing variants of genes DNAH9, DNAH11, and ODAD4 of cilia outer dynein arm and central apparatus, HYDIN, were found in our TGA patients. Remarkable, there is a clustering of deleterious genetic variants in cilia genes, suggesting it could be an oligogenic disease. Our data evidence the genetic diversity and etiological complexity of TGA and point out that population allele determination and genetic aggregation studies are required to improve genetic counseling.
Assuntos
Cílios , Transposição dos Grandes Vasos , Artérias , Dineínas do Axonema/genética , Cílios/genética , Análise por Conglomerados , Humanos , Transposição dos Grandes Vasos/genética , Sequenciamento do ExomaRESUMO
Right aortic arch with aberrant left subclavian artery from a Kommerell's diverticulum is a very rare variant of the incomplete vascular ring. Associated symptoms are caused due to tracheal or esophagus compression. Magnetic resonance is the gold standard for diagnosis. Surgical treatment is recommended for symptomatic patients or asymptomatic patients with a large diverticulum. We report three consecutive cases of patients with Kommerell's diverticulum, aberrant left subclavian artery, and right-sided aortic arch.
Assuntos
Aneurisma/etiologia , Aorta Torácica/anormalidades , Anormalidades Cardiovasculares/etiologia , Transtornos de Deglutição/etiologia , Divertículo/complicações , Artéria Subclávia/anormalidades , Pré-Escolar , Divertículo/diagnóstico , Divertículo/cirurgia , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética/métodos , MasculinoRESUMO
Objetivo: La reducción en la perfusión pulmonar se ha descrito tras el cierre percutáneo del conducto arterioso permeable con varios dispositivos. Evaluamos la perfusión pulmonar posterior al cierre percutáneo del conducto arterioso con el dispositivo Amplatzer Duct Occluder utilizando la gammagrafía pulmonar de perfusión. Métodos: Treinta pacientes con oclusión transcatéter exitosa del conducto arterioso permeable utilizando el dispositivo Amplatzer Duct Occluder fueron incluidos en este estudio. La gammagrafía pulmonar de perfusión se realizó 6 meses después del procedimiento. Las velocidades de flujo máximo y la protrusión del dispositivo fueron analizadas por ecocardiografía Doppler. Una perfusión pulmonar izquierda < 40% se consideró anormal. Resultados: El implante del dispositivo fue exitoso en todos. La media de perfusión hacia el pulmón izquierdo fue de 44.7 ± 4.9% (37.8-61.4). Cinco pacientes (16.6%) mostraron disminución en la perfusión pulmonar izquierda. Tanto la edad y el peso bajo, así como la longitud del conducto arterioso y la relación diámetro mínimo y máximo con la longitud del conducto arterioso fueron estadísticamente significativos en los pacientes con anomalías de la perfusión pulmonar. Se observó protrusión del dispositivo en 6 pacientes con una velocidad de flujo máximo mayor en la arteria pulmonar izquierda. Conclusión: La perfusión pulmonar izquierda puede comprometerse tras el cierre percutáneo del conducto arterioso con el Amplatzer Duct Occluder. El aumento en la velocidad de flujo en el origen de la arteria pulmonar izquierda puede ser un pobre indicador de la reducción en la perfusión pulmonar y puede ocurrir en ausencia de protrusión del dispositivo.
Objective: The closure of patent ductus arteriosus with multiple devices has been associated with a reduction in lung perfusion. We evaluated the pulmonary perfusion after percutaneous closure of patent ductus arteriosus with the Amplatzer Duct Occluder device using perfusion lung scan. Methods: Thirty patients underwent successful percutaneous patent ductus arteriosus occlusions using the Amplatzer Duct Occluder device were included in this study. Lung perfusion scans were preformed 6 months after the procedure. Peak flow velocities and protrusion of the device were analyzed by Doppler echocardiography. A left lung perfusion < 40% was considered abnormal. Results: The device implantation was successful in all patients. Average perfusion of left lung was 44.7 ± 4.9% (37.8-61.4). Five patients (16.6%) showed decreased perfusion of the left lung. Age, low weight, the length of the ductus arteriosus and the minimum and maximum diameter/length of the ductus arteriosus ratio were statistically significant in patients with abnormalities of lung perfusion. It was observed protrusion the device in 6 patients with a higher maximum flow rate in the left pulmonary artery. Conclusion: The left lung perfusion may be compromised after percutaneous closure of patent ductus arteriosus with the Amplatzer Duct Occluder. The increased flow velocity in the origin of the left pulmonary artery can be a poor indicator of reduction in pulmonary perfusion and can occur in the absence of protrusion of the device.
Assuntos
Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Permeabilidade do Canal Arterial/fisiopatologia , Permeabilidade do Canal Arterial/cirurgia , Pulmão/irrigação sanguínea , Artéria Pulmonar/fisiopatologia , Fluxo Sanguíneo Regional , Dispositivo para Oclusão Septal , Estudos RetrospectivosRESUMO
OBJECTIVE: The closure of patent ductus arteriosus with multiple devices has been associated with a reduction in lung perfusion. We evaluated the pulmonary perfusion after percutaneous closure of patent ductus arteriosus with the Amplatzer Duct Occluder device using perfusion lung scan. METHODS: Thirty patients underwent successful percutaneous patent ductus arteriosus occlusions using the Amplatzer Duct Occluder device were included in this study. Lung perfusion scans were preformed 6 months after the procedure. Peak flow velocities and protrusion of the device were analyzed by Doppler echocardiography. A left lung perfusion<40% was considered abnormal. RESULTS: The device implantation was successful in all patients. Average perfusion of left lung was 44.7±4.9% (37.8-61.4). Five patients (16.6%) showed decreased perfusion of the left lung. Age, low weight, the length of the ductus arteriosus and the minimum and maximum diameter/length of the ductus arteriosus ratio were statistically significant in patients with abnormalities of lung perfusion. It was observed protrusion the device in 6 patients with a higher maximum flow rate in the left pulmonary artery. CONCLUSION: The left lung perfusion may be compromised after percutaneous closure of patent ductus arteriosus with the Amplatzer Duct Occluder. The increased flow velocity in the origin of the left pulmonary artery can be a poor indicator of reduction in pulmonary perfusion and can occur in the absence of protrusion of the device.
