Search results for "Great vessels"
showing 9 items of 9 documents
Redefining the MED13L syndrome
2015
Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficu…
Mediastinal lymph node staging with transesophageal echography in cancer of the lung.
1990
Transesophageal echography (TEE) was used prospectively to study mediastinal lymph node enlargement in 23 patients with cancer of the lung. The findings were validated blindly by comparison with computed tomography (CT, n = 23) and pathological N classification after curative surgery (n = 9). Lymph nodes larger than 1 cm were defined as pathologically enlarged. In the upper mediastinum, 22% (8 vs 36), in the lower mediastinum including the subaortic region 112% (37 vs 33) and in the hilar region 67% (6 vs 9) of enlarged lymph nodes diagnosed by CT were detected by TEE. A pathological study in 9 patients demonstrated true positive findings in 2 vs 1, true negatives in 4 vs 5, false positives…
Hyperplastic Conotruncal Endocardial Cushions and Transposition of Great Arteries in Perlecan-Null Mice
2002
Perlecan is a heparan-sulfate proteoglycan abundantly expressed in pericellular matrices and basement membranes during development. Inactivation of the perlecan gene in mice is lethal at two developmental stages: around E10 and around birth. We report a high incidence of malformations of the cardiac outflow tract in perlecan-deficient embryos. Complete transposition of great arteries was diagnosed in 11 out of 15 late embryos studied (73%). Three of these 11 embryos also showed malformations of semilunar valves. Mesenchymal cells in the outflow tract were abnormally abundant in mutant embryos by E9.5, when the endocardial-mesenchymal transformation starts in wild-type embryos. At E10.5, mut…
Bifocal stimulation in patient with congenitally corrected transposition of great vessels
2012
Congenitally corrected transposition of the great vessels (CCTGV) is a rare congenital heart defect associated with multiple cardiac morphological abnormalities and conduction defects. Complete atrioventricular (AV) block occurs in 30% of patients and it may be present at birth or develop later with a rate of 2% per year; moreover, a systemic right ventricle is frequently characterized by heart failure in adult life. We used a bifocal cardiac stimulation for a young woman affected by CCTGV and atrioventricular Mobitz 2 and 2:1 block, considering structural, anatomic condition, and the high rate of pacing she underwent
Transposition of the great arteries and aortopulmonary window in the same patient: clinical report and follow-up.
2002
Trasnposition of great arteries (TGA) Has been reported in combination with several congenital defects. Only one case of TGA has been described in association with aortopulmonary window (APW).
Development of the coronary arteries in a murine model of transposition of great arteries.
2003
Transposition of great arteries in humans is associated with a wide spectrum of coronary artery patterns. However, no information is available about how this pattern diversity develops. We have studied the development of the coronary arteries in mouse embryos with a targeted mutation of perlecan, a mutation that leads to ventriculo-arterial discordance and complete transposition in about 70% of the embryos. The perlecan-deficient embryos bearing complete transposition showed a coronary artery pattern consisting of right and left coronary arteries arising from the morphologically dorsal and ventral sinuses of Valsalva, respectively. The left coronary artery gives rise to a large septal arter…
Bifocal Stimulation in Patient with Congenitally Corrected Transposition of Great Vessels
2011
Congenitally corrected transposition of the great vessels (CCTGV) is a rare congenital heart defect associated with multiple cardiac morphological abnormalities and conduction defects. Complete atrioventricular (AV) block occurs in 30% of patients and it may be present at birth or develop later with a rate of 2% per year; moreover, a systemic right ventricle is frequently characterized by heart failure in adult life. We used a bifocal cardiac stimulation for a young woman affected by CCTGV and atrioventricular Mobitz 2 and 2:1 block, considering structural, anatomic condition, and the high rate of pacing she underwent. (PACE 2012; 35:e296–e298)
Gradual angioplasty and stent implantation to treat complete superior vena cava occlusion after Mustard procedure
1996
A 16-year-old male was admitted with complete occlusion of the superior vena cava pathway 14 years after Mustard procedure for transposition of the great arteries. From a left subclavian vein approach, the atretic vein segment was perforated using a straight guidewire, and was followed by sequential balloon dilation. Implantation of a 30 mm Palmaz-stent through a femoral vein approach resulted in a widely patent channel of the vena cava superior into the systemic venous atrium. © 1996 Wiley-Liss, Inc.
Congenitally corrected transposition of great vessels: MRI and echocardiographic appearance
1995
This paper presents the case of a 36-year-old male with congenitally corrected transposition of great vessels (CTGV). This is a rare cardiac anomaly characterized by atrioventricular and ventriculoarterial discordance, occuriing in less than 1% of all congenital heart diseases. This was diagnosed by echocardiography and MRI. The MRI findings demonstrated cardiac abnormality.