RESUMEN
Há vários anos, a oclusão percutânea do canal arterial persistente é uma técnica factível e eficaz na maioria das variantes morfológicas descritas por Krishenko. O tipo B, em janela, caracterizado por ser curto, permanece um desafio, devido ao maior risco de embolizações das próteses e das oclusões incompletas. Descrevemos aqui o uso bem-sucedido de oclusores septais AMPLATZER® em três pacientes com canal arterial em janela, dois casos tratados com dispositivos de 5 mm e um com o de 7 mm. O dispositivo AMPLATZER® desenhado para a oclusão da comunicação interatrial mostrou-se eficaz para o tratamento percutâneo dessa variante morfológica de canal arterial persistente.
For several years the percutaneous closure of patent ductus arteriosus has been a reliable and effective technique for most of the morphologic variants described by Krichenko. Type B, or window-type, patent ductus arteriosus remains a challenge due to the higher risk of device embolizations and incomplete occlusions. We report the successful use of AMPLATZERTM septal occluder in three patients with window-type patent ductus arteriosus, two cases treated with a 5-mm device and one case with a 7-mm device. The AMPLATZERTM device designed for the occlusion of atrial septal defects is effective for the percutaneous treatment of this morphological variant of patent ductus arteriosus.
Asunto(s)
Humanos , Masculino , Femenino , Niño , Adolescente , Adulto , Implantación de Prótesis Vascular , Conducto Arterioso Permeable/cirugía , Conducto Arterioso Permeable/genética , Angiografía/métodos , Defectos del Tabique Interatrial/cirugía , Defectos del Tabique Interatrial/genética , Defectos de los Tabiques Cardíacos/cirugía , Defectos de los Tabiques Cardíacos/genéticaRESUMEN
Background & objectives: Cardiac malformations in the young constitute a major portion of clinically significant birth defects. Congenital heart disease (CHD) is a common congenital cardiac birth defect, affecting nearly 1 per cent of all live births. Patent ductus arteriosus (PDA) is clinically significant foetal circulation anomaly, second most common form of CHD which constitutes approximately 10 per cent of total CHDs. The study aimed to screen for TFAP2B mutations in CHD patients of Mysore. Methods: With informed consent, 100 clinically diagnosed CHD patients and 50 healthy controls in Mysore, south India, were recruited for the analysis of screening of mutations. MassARRAY analysis of 5 prominent mutations of TFAP2B was performed. Results: The analysis did not show any of the five mutations of TFAP2B screened by massARRAY in patients and controls, indicating that these mutations were not involved in the manifestation of CHD in the patients at Mysore, south India. Interpretation & Conclusions: The findings suggest the lack of involvement of known mutations of TFAP2B with syndromic or nonsyndromic CHDs in Mysore patients.
Asunto(s)
Niño , Preescolar , Conducto Arterioso Permeable/genética , Femenino , Cardiopatías Congénitas/genética , Cardiopatías/genética , Humanos , India , Lactante , Recién Nacido , Masculino , Mutación/genética , Factor de Transcripción AP-2/genéticaRESUMEN
We report on a patient with a partial deletion on the short arm of chromosome 18 (del 18p), who presented with dysmorphic features and delayed developmental milestones as well as with a patent ductus arteriosus (PDA) and pulmonary valve stenosis (PS). Several forms of congenital heart disease (CHD) are found in about 10% of patients with del (18p), but coexisting PDA and PS have not been reported. Del (18p) must be considered in patients with characteristic phenotypic abnormalities and congenital heart disease, including a combination of PDA and PS.