Publications by authors named "Fredy H Prada-Martinez"

Background: Scimitar syndrome is a rare form of congenital heart disease (CHD) characterized by anomalous pulmonary venous drainage of the right lung to the inferior vena cava. We describe the presentation, diagnosis, therapeutic management and long-term follow-up of 10 pediatric patients with Scimitar Syndrome.

Methods: We performed a retrospective observational study of all pediatric patients from our institution with scimitar syndrome (March 1996-July 2023).

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Myhre syndrome is a rare disease secondary to pathogenic variants in gene. It is a multisystem disease characterised by short stature, deafness, joint stiffness, craniofacial dysmorphism, and potential cardiac manifestations. Herein, we report two new paediatric cases of Myhre syndrome who, additionally, presented with mid-aortic syndrome.

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Mid-aortic syndrome (MAS) is an uncommon condition characterized by severe narrowing of the abdominal aorta, usually involving visceral and renal arteries. Most patients are asymptomatic and typically present with incidental hypertension which might evolve into end-organ damage if untreated. Our aim was to review 8 new pediatric MAS cases.

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We report a case of massive ascending aortic dilatation in a patient with generalized arterial calcification of infancy (GACI). He was found to carry compound heterozygous mutations in gene, previously associated with pseudoxanthoma elasticum, although recently linked to GACI. Our case confirms previous reports of a genotypic overlap between both entities.

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Introduction And Objectives: The NitOcclud Lê VSD Coil was specifically designed for transcatheter occlusion of ventricular septal defects (VSD) and became available for this purpose in August 2010. Our objective was to describe the Spanish experience of this technique and analyze its reliability and short- to mid-term efficacy.

Methods: National multicenter observational study, which retrospectively recruited all patients (of any age) with VSD (of any location or type) who underwent percutaneous NitOcclud occlusion, using an intention-to-treat analysis, until January 2019.

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Introduction And Objectives: Transposition of the great arteries is a prevalent congenital heart defect with a high survival rate and a good long-term outcome, especially if managed with early surgical intervention during the neonatal period. In this study, our main objective was to describe patient characteristics and outcomes and to identify possible predictors of early and long-term morbidity and mortality.

Methods: Retrospective analysis through review of clinical and surgical charts of patients with transposition of the great arteries admitted to the service of neonatology during 2000-2011.

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