Search results for "Heart septal defect"
showing 10 items of 16 documents
VATER/VACTERL association: clinical variability and expanding phenotype including laryngeal stenosis.
1992
Vertebral abnormalities and anorectal and tracheoesophageal defects are the main manifestations in the VATER/VACTERL association. Radial defects vary from radial aplasia to thumb duplication. Heart and renal defects are reported with lower frequency. Additional malformations, such as the laryngeal stenosis described in the present patient, may expand the phenotype of the association. The wide spectrum of congenital abnormalities confirms the high clinical variability of VATER/VACTERL association which seems to be due to a disruption of blastogenesis. © 1992 Wiley-Liss, Inc.
Natural and modified history of isolated ventricular septal defect: A 17-year study
1992
We studied 882 cases of isolated ventricular septal defect (VSD) diagnosed from 1971 to 1988 with a mean follow-up period of 9.5 years. They represent 22.5% of all congenital heart defects diagnosed in this period. Six hundred eighty-three children (77.4%) did not develop symptoms, had small defects, and the rate of spontaneous closure was high (40.2%). The remaining 199 children presented symptoms; at the initial catheterization 25, 65, 107, and 2 cases were grouped in hemodynamic groups 2, 3, 4, and 5-6, respectively, on the basis of pulmonary flow and resistance. Only seven patients (0.7%) developed aortic regurgitation, and only five patients (0.5%) developed infective endocarditis. Com…
Search for a gene responsible for Floating-Harbor syndrome on chromosome 12q15q21.1.
2012
International audience; Floating-Harbor syndrome (FHS) is characterized by characteristic facial dysmorphism, short stature with delayed bone age, and expressive language delay. To date, the gene(s) responsible for FHS is (are) unknown and the diagnosis is only made on the basis of the clinical phenotype. The majority of cases appeared to be sporadic but rare cases following autosomal dominant inheritance have been reported. We identified a 4.7 Mb de novo 12q15-q21.1 microdeletion in a patient with FHS and intellectual deficiency. Pangenomic 244K array-CGH performed in a series of 12 patients with FHS failed to identify overlapping deletions. We hypothesized that FHS is caused by haploinsuf…
Coronary Artery Fistula in Down Syndrome: A Hidden Association
2017
Cardiac regenerative capacity is age- and disease-dependent in childhood heart disease
2018
Objective We sought to define the intrinsic stem cell capacity in pediatric heart lesions, and the effects of diagnosis and of age, in order to inform evidence-based use of potential autologous stem cell sources for regenerative medicine therapy. Methods Ventricular explants derived from patients with hypoplastic left heart syndrome (HLHS), tetralogy of Fallot (TF), dilated cardiomyopathy (DCM) and ventricular septal defect (VSD) were analyzed following standard in vitro culture conditions, which yielded cardiospheres (C-spheres), indicative of endogenous stem cell capacity. C-sphere counts generated per 5 mm3 tissue explant and the presence of cardiac progenitor cells were correlated to pa…
Congenital anomalies among live births in a high environmental risk area—A case-control study in Brindisi (southern Italy)
2013
Maternal exposure to ambient pollution has been increasingly linked to the risk of congenital anomalies (CAs) in the fetus and newborns. Recently, a descriptive study in the high environmental risk city of Brindisi (Italy) revealed an increased prevalence of total CAs, especially congenital heart disease (CHD) and ventricular septal defects (VSDs), both at the local level and in comparison with the pool of EUROCAT registries. This paper concerns a population-based case control study to investigate the association between maternal exposure to air pollutants - sulfur dioxide (SO2) and total suspended particulate (TSP) matter - and the risk of CA. Cases were newborns up to 28 days of age, born…
Transcatheter radiofrequency perforation and stent implantation for palliation of pulmonary atresia in a 3060-g infant
1995
In a 3060-g infant with fibromuscular pulmonary atresia an open right ventricular outflow tract was created by means of interventional cardiological methods. Following two inadvertent perforations without sequelae or clinical symptoms, radiofrequency perforation and subsequent balloon dilatation were successfully performed. The implantation of a Palmaz iliac stent led to a predictable communication between the right ventricle and pulmonary artery.
THE NONCOMPACTION OF THE LEFT VENTRICULAR MYOCARDIUM: OUR PEDIATRIC EXPERIENCE
2007
OBJECTIVES: The noncompaction of the left ventricular myocardium is a rare congenital heart disease, characterized by an excessive prominence of trabecular meshwork, spaced out by deep intertrabecular recesses, consequent to the arrest of the normal myocardium embryogenesis. Although there are numerous descriptions, the physiopathological effects of the structural alterations, just like the clinical spectrum and the evolution of the disease, are not totally clarified. In the present study, we have evaluated the natural history of the disease, the familial incidence and the alterations of the systolic and diastolic function. METHODS: We collected a series of 21 young patients who were affect…
Hypoplasia of the posterior mitral valve leaflet: Don't forget to look beyond the mitral valve.
2020
Hypoplasia of the posterior mitral valve leaflet (PMVL) is a very rare finding in adulthood and can coexist with other congenital heart defects. In this image, a transesophageal echocardiography (TOE) carried out on a 59-year-old woman with a 2-month history of dyspnea revealed a hypoplastic PMVL causing severe mitral regurgitation associated with a secundum-type atrial septal defect (ASD) with left-to-right shunting. This case demonstrates how essential 3-dimensional TOE is for a comprehensive assessment of the mitral valve and to improve the diagnostic accuracy of concomitant congenital heart abnormalities.