Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Interrupted aortic arch type B in A patient with cat eye syndrome.

ABSTRACT: We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an interrupted aortic arch type B is unusual in CES, although it is a frequent heart defect in the 22q11 deletion syndrome.

SUBMITTER: Belangero SI

PROVIDER: S-EPMC2814778 | biostudies-literature | 2009 May

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Interrupted aortic arch type B in A patient with cat eye syndrome.

Belangero Sintia Iole Nogueira SI Bellucco Fernanda Teixeira da Silva FT Cernach Mirlene C S P MC Hacker April M AM Emanuel Beverly S BS Melaragno Maria Isabel MI

Arquivos brasileiros de cardiologia 20090501 5

We report a patient with cat eye syndrome and interrupted aortic arch type B, a typical finding in the 22q11.2 deletion syndrome. Chromosomal analysis and fluorescent in situ hybridization (FISH) showed a supernumerary bisatellited isodicentric marker chromosome derived from chromosome 22. The segment from 22pter to 22q11.2 in the supernumerary chromosome found in our patient does not overlap with the region deleted in patients with the 22q11.2 deletion syndrome. However, the finding of an inter ...[more]

PMID: 19629279

Similar Datasets

6q21-22 deletion syndrome with interrupted aortic arch.

Project description:Interstitial deletion of 6q21-22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21-22 deletion presenting with interrupted aortic arch in addition to the previously described clinical signs. Array analysis using Agilent Human genome CGH 180K identified a 13.3-Mb deletion at 6q21-q22.31 (nt. 109885195-123209593).

| S-EPMC4785536 | biostudies-other

Cat eye syndrome.

Project description:A full-term female baby, a product of non-consanguineous marriage, was born at 37 weeks of gestation with a birth weight of 2.08 kg. Antenatal scan at 31 weeks revealed complex congenital heart disease with a hypoplastic right ventricle, pulmonary atresia and an intact septum. Immediately after birth, the infant was shifted to the nursery and was started on intravenous fluids and infusion prostaglandin E1 (Alprostidil). On examination, she had microcephaly, periorbital puffiness, a long philtrum, a broad nasal bridge and retrognathia, up slanting palpebral fissures, widely spaced nipples, a sacral dimple and right upper limb postaxial polydactyly. Postnatal echocardiography confirmed a large ostium secundum atrial septal defect with left to right shunt, right ventricle hypoplasia, pulmonary atresia with an intact septum and a large vertical patent ductus arteriosus. Ophthalmological examination showed a bilateral chorioretinal coloboma sparing disc and fovea. Karyotyping showed an extra small marker chromosome suggestive of the Cat eye syndrome.

| S-EPMC4039909 | biostudies-literature

A case report: stent implantation to treat coarctation of persistent 5th aortic arch associated with interrupted 4th aortic arch.

Project description:Persistent 5th aortic arch is a rare cardiac anomaly that is usually surgically corrected during infancy or early childhood if it is associated with coarctation of the aorta. Here, we report an adult with coarctation of the 5th aortic arch who was successfully treated by stent implantation. An asymptomatic 32-year-old woman presented with hypertension and a significant arm-leg difference in pressure. On suspicion of coarctation of the aorta, a chest computed tomography was performed, leading to a diagnosis of an interrupted 4th aortic arch with coarctation of a persistent 5th aortic arch. Percutaneous catheter intervention using a PALMAZ large stent dilated to 12 mm resulted in a minimal peak-to-peak pressure gradient. The patient was discharged home after a 2-day monitoring without hypertension and arm-leg blood pressure difference. She remained normotensive with a patent aortic arch on echocardiography performed 10 months after treatment. As for simple coarctation of the aorta, stent implantation was feasible and effective in an adult patient with coarctation of the 5th aortic arch.

| S-EPMC6601166 | biostudies-literature

Surgical repair of persistent fifth aortic arch coarctation and interrupted fourth aortic arch without cardiopulmonary bypass: a case report.

Project description:Persistent fifth aortic arch (PFAA) is a rare congenital cardiovascular anomaly of the aortic arch, which can occur independently but is frequently associated with other cardiovascular malformations including patent ductus arteriosus (PDA), interrupted aortic arch (IAA), pulmonary atresia, tetralogy of Fallot, and transposition of the great vessels. PFAA can be classified into three different types according to different abnormal vascular connections (type A, B and C). We report an infant diagnosed with PFAA along with interrupted fourth aortic arch (type B) and PDA. Several surgical methods have been delivered to patients diagnosed with PFAA. In our case, the correction of coarctation PFAA and the ligation of PDA were performed without cardiopulmonary bypass through left lateral thoracotomy. We removed the coarctation part of the PFAA, and then performed the end-to-end anastomosis between the fifth aortic arch and the descending aorta. Despite the stenosis at the site of anastomosis was observed 10 months after the operation, the patient resulted in good recovery by once balloon dilation procedure. Thus, we recommend it is more appropriable to select this procedure in the surgical treatment of PFAA for those patients whose fourth aortic arches were interrupted with fifth aortic arches well developed. Our experience can provide a beneficial reference for future cases.

| S-EPMC8905098 | biostudies-literature

Short-Segment Type B Interrupted Aortic Arch Presenting With Subarachnoid Hemorrhage With Subsequent Primary Percutaneous Repair.

Project description:This report describes a young adult man presenting with subarachnoid hemorrhage secondary to an intracranial aneurysm who was found to have a short-segment type B interrupted aortic arch. We describe the clinical presentation, evaluation, and management of this patient and highlight imaging findings and percutaneous repair of the aneurysm and interrupted aortic arch. (Level of Difficulty: Intermediate.).

| S-EPMC8543161 | biostudies-literature

Diagnosis of Interrupted Aortic Arch in an Adult during Coronary Artery Evaluation.

Project description: Not available

| S-EPMC8318814 | biostudies-literature

Incidental diagnosis of interrupted aortic arch in a 72-year-old man.

Project description: Not available

| S-EPMC2763471 | biostudies-literature

Predictors of Left Ventricular Outflow Tract Obstruction After Primary Interrupted Aortic Arch Repair.

Project description:Left ventricular outflow tract obstruction is an important complication after interrupted aortic arch repair and subsequent interventions may adversely affect survival. Identification of patients at risk for obstruction is important to facilitate clinical decision-making and monitoring during follow-up. The aim of this review is to summarize reported risk factors for left ventricular outflow tract obstruction after corrective surgery for interrupted aortic arch. A systematic search of the literature was performed across the PubMed and EMBASE databases. Studies that reported echocardiographic and/or clinical predictors for left ventricular outflow tract obstruction in infants that underwent biventricular repair of interrupted aortic arch were included. From the 44 potentially relevant studies, eight studies met the inclusion criteria. Postoperative left ventricular outflow tract obstruction requiring an intervention was common, with an incidence ranging between 14 and 38%. Manifestation of postoperative left ventricular outflow tract obstruction was associated with a smaller pre-operative size of the aortic root (sinus of Valsalva), sinotubular junction, and aortic annulus. Anatomic and surgical risk factors for left ventricular outflow tract obstruction were the presence of an aberrant right subclavian artery, use of a pulmonary homograft or polytetrafluoroethylene interposition graft for aortic arch repair, and the presence of a small- or medium-sized ventricular septal defect. In patients with a borderline left ventricular outflow tract that undergo a primary repair, these (pre-) operative predictors can provide guidance for optimal surgical decision-making and for close monitoring during follow-up of patients at increased risk for developing left ventricular outflow tract obstruction after corrective surgery.

| S-EPMC8557160 | biostudies-literature

Corkscrew aortic arch in PHACES syndrome: Multimodal imaging of an unusual morphology of tortuous aortic arch in a rare but well-defined syndrome.

Project description:PHACES syndrome, a diffuse aortocraniocerebral vasculopathy, is a neural tube migration disorder, characterized by aortic coarctation and aberrant arch branches. Clinical diagnosis, echocardiography, and surgical management of coarctation in this syndrome are challenging due to peculiar morphological differences. Corkscrew aortic arch, an extreme tortuosity of the aortic arch described in arterial tortuosity syndrome, is not reported in PHACES syndrome so far. Multimodal imaging of this unusual corkscrew aortic arch in two patients with PHACES syndrome is presented.

| S-EPMC6716328 | biostudies-literature

The aortic arch management for type A aortic dissection: aggressive but experienced.

Project description: Not available

| S-EPMC7330748 | biostudies-literature