Search results for "Ductus arteriosus"
showing 10 items of 12 documents
Microdeletion 22q11 in complex cardiovascular malformations.
1997
Besides DiGeorge, velocardiofacial and conotruncal anomaly face syndromes, some of the isolated congenital heart diseases have also been associated with a chromosomal deletion in 22q11. These disease entities, which had originally been considered to have a different genetic background, are now included in the CATCH-22 microdeletion complex. CATCH 22 is an acronym for cardiac defect, abnormal facies, thymic hypoplasia or aplasia and T-cell deficiency, cleft palate, hypoparathyroidism, and hypocalcemia. In the present study, we focused on the complex cardiovascular defects (CCVD) and screened 40 patients for a microdeletion of 22q11 by fluorescence in situ hybridization using the D22S75 DNA p…
Double inlet left ventricular main chamber, subaortic small left sided right ventricle and interrupted aortic arch type A. What operation is indicate…
1987
A case of a 23 year old female patient who suffered from the complex congenital heart lesion of a double inlet left ventricular main chamber, subaortic small left sided right ventricle and interrupted aortic arch type A is reported. With equally high blood pressures, the perfusion in the upper half of the body was maintained through the ascending aorta while the lower half and the lungs were supplied through the pulmonary artery and a patent ductus arteriosus (PDA). Angiographically, the bulbo-ventricular foramen appeared to be nonrestrictive. However, distinct signs of muscular subaortic stenosis were detected. The hemodynamic status principally allowed surgical correction when this became…
Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus
2006
We have recently described two kindreds presenting thoracic aortic aneurysm and/or aortic dissection ( TAAD) and patent ductus arteriosus (PDA)(1,2) and mapped the disease locus to 16p12.2-p13.13 (ref. 3). We now demonstrate that the disease is caused by mutations in the MYH11 gene affecting the C-terminal coiled-coil region of the smooth muscle myosin heavy chain, a specific contractile protein of smooth muscle cells (SMC). All individuals bearing the heterozygous mutations, even if asymptomatic, showed marked aortic stiffness. Examination of pathological aortas showed large areas of medial degeneration with very low SMC content. Abnormal immunological recognition of SM-MHC and the colocal…
Ceramide Mediates Acute Oxygen Sensing in Vascular Tissues
2014
AbstractAims: A variety of vessels, such as resistance pulmonary arteries (PA) and fetoplacental arteries and the ductus arteriosus (DA) are specialized in sensing and responding to changes in oxygen tension. Despite opposite stimuli, normoxic DA contraction and hypoxic fetoplacental and PA vasoconstriction share some mechanistic features. Activation of neutral sphingomyelinase (nSMase) and subsequent ceramide production has been involved in hypoxic pulmonary vasoconstriction (HPV). Herein we aimed to study the possible role of nSMase-derived ceramide as a common factor in the acute oxygen-sensing function of specialized vascular tissues. Results: The nSMase inhibitor GW4869 and an anticera…
A New Off-Pump Hybrid Open and Endovascular Repair to Treat Ductus Botalli and Ascendens Aneurysms
2012
To report a combined ascending aorta and aortic arch hybrid repair, we performed off-pump with no aortic graft replacement. A 65-year-old man, developing progressive recurrent laryngeal nerve paralysis, underwent a computed tomography (CT) angiography detecting nonpatent residual ductus Botalli aneurysm and ascending aorta aneurysm. Due to severe multimorbidities, a less-invasive alternative was elaborated. In a first step, appropriate proximal landing zone for aortic stent grafting was achieved by ascending aorta diameter reduction, with epiaortic wrapping, and debranching the supra-aortic trunks. In the second step, endovascular stent grafts were deployed from proximal ascending aorta to…
Trends in congenital anomalies in Europe from 1980 to 2012
2018
Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003±2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to …
Familial thoracic aortic aneurysm/dissection with patent ductus arteriosus: genetic arguments for a particular pathophysiological entity.
2004
International audience; Thoracic aortic aneurysm and aortic dissection (TAA and AD) are an important cause of sudden death. Familial cases could account for 20% of all cases. A genetic heterogeneity with two identified genes (FBN1 and COL3A1) and three loci (3p24-25 or MFS2/TAAD2, 5q13-q14 and 11q23.2-24) has been shown previously. Study of a single family composed of 179 members with an abnormally high occurrence of TAA/AD disease. A total of 40 subjects from three generations were investigated. In addition to five cases of stroke and three cases of sudden death, there were four cases of AD and four cases of TAA in adults. In all, 11 cases of patent ductus arteriosus (PDA) were observed, t…
Transcatheter recanalisation and stenting of a closed ductus arteriosus in duct dependent lung perfusion
1998
In patients with the congenital cardiac malformation of tetralogy of Fallot, occasionally one pulmonary artery, usually the left, seems angiographically to be absent.1 This pulmonary artery is usually present, but discontinuous with the pulmonary trunk, having originally been supplied by a patent arterial duct. With closure of the duct, the receiving flow to that pulmonary artery is by small collateral vessels, which leads to reduced growth of the involved pulmonary vessels and impedes definite surgical repair. We report a case of a 2 day old, 1890 g, premature, cyanotic boy (oxygen saturation 82%) with tetralogy of Fallot, right sided aortic arch, and discontinuity between the pulmonary tr…
Efecto de la administración concomitante de indometacina o ibuprofeno en la farmacocinética de amikacina en neonatos prematuros
2006
Objective: To evaluate whether the concomitant administration of ibuprofen or indomethacin plus amikacin may alter the latter drug's pharmacokinetic parameters, and hence amikacin plasma levels. Method: Retrospective cohort study performed by reviewing the medical records of premature children with persistent ductus arteriosus receiving amikacin and ibuprofen, or amikacin and indomethacin. They were divided up into three groups: group 1: treatment with amikacin went before indomethacin or ibuprofen; group 2: simultaneously treated with amikacin and indomethacin; group 3: simultaneously treated with amikacin and ibuprofen. Pharmacokinetic parameters, distribution volume, and amikacin clearan…
A Case of Cardiomyopathy Due to Premature Ductus Arteriosus Closure: The Flip Side of Paracetamol.
2017
Paracetamol (acetaminophen or N-acetyl-p-aminophenol) is considered a safe analgesic and antipyretic nonsteroidal antiinflammatory drug commonly used during pediatric ages and during pregnancy. We report on a term neonate with closed ductus arteriosus, severe cardiomyopathy, right ventricular dysfunction, and functional stenosis of pulmonary arteries at birth after maternal self-medication with paracetamol and consumption of polyphenol-rich foods in late pregnancy. This drug, especially when associated with other vasoconstrictors (such as polyphenols), interferes with prostaglandin metabolism, which seriously accentuates the intrauterine ductus arteriosus constriction and leads to pharmacol…