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

Coronary Artery Bypass Salvage With Branched Aortic Endograft in a Patient With Aortic Arch Ulcer.

Project description:Treatment of multiple penetrating aortic ulcers becomes troublesome if they involve the aortic arch. We report a percutaneous aortic repair using a unibody design endoprosthesis with a precannulated side component for the left subclavian artery to manage a large aortic arch ulcer and preserve the patency of previous coronary artery bypass graft. (Level of Difficulty: Advanced.).

| S-EPMC9334133 | 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

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

Intravascular ultrasound guided transcatheter electrosurgical revascularization of an interrupted aortic arch.

Project description:Interrupted aortic arch is a rare (prevalence 1:100000) but malignant cause of secondary hypertension, with late sequela of early myocardial infarction, stroke, and heart failure. We present the case of a 49-year-old male patient with aortic interruption successfully treated by intravascular ultrasound guided transcatheter electrosurgical wire crossing and revascularization using a covered stent.Learning objectiveTranscatheter electrosurgical wire techniques utilizing intravascular ultrasound facilitate safe and effective percutaneous revascularization of complex aortic coarctation patients.

| S-EPMC9214865 | biostudies-literature

Bronchial artery aneurysm mimicking aortic arch aneurysm or aortic dissection.

Project description: Not available

| S-EPMC8302985 | biostudies-literature

Myocardial Priority Promotes Cardiovascular Recovery for Acute Type A Aortic Dissection Combined with Coronary Artery Disease Undergoing Aortic Arch Surgery.

Project description:The optimal surgical strategy for acute type A aortic dissection (ATAAD) with coronary artery disease (CAD) remains unclear. The goal of this study was to investigate the cardiovascular protective effects of the myocardial priority (MP) strategy or traditional selective cerebral perfusion (SCP) in ATAAD with CAD. A total of 214 adults were analyzed retrospectively, of which 80 underwent the MP strategy intraoperatively. Seventy-nine pairs were propensity-score-matched and divided into SCP and MP groups. The follow-up period ranged from 6 to 36 months. The MP group had a significantly shorter myocardial ischemic time, higher perfusion flow, higher radial artery pressure, and lower incidence of NIRS decrease >20% of the base value, but a longer lower limb circulatory arrest and bypass time than the SCP group. Although similar adverse cardiac and cerebrovascular events were observed in both groups, a shorter posthospital stay, less blood loss and transfusion, higher postoperative hemoglobin, lower creatinine, and higher PaO2/FiO2 were observed in the MP group. Subgroup analysis showed that when the TIMI Risk Score was <4, the MP group had a lower incidence of low cardiac output and lower postoperative cTnI level. The follow-up patients had similar morbidities between the two groups. The novel MP strategy is associated with a shortened myocardial ischemic time, better maintained perfusion of vital organs, and postoperative recovery after surgery for ATAAD combined with non-severe CAD.

| S-EPMC10532919 | biostudies-literature

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

Project description: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.

| S-EPMC2814778 | biostudies-literature

Perinatal Diagnosis and Management of a Case with Interrupted Aortic Arch, Pulmonary Valve Dysplasia and 22q11.2 Deletion: A Case Report.

Project description:The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11.2 deletion. The pregnancy was regularly followed until delivery which took place in Germany so that neonatal cardiac surgery could be performed in an experienced center for cardiac malformations. The distinctivness of our report resides in the fact that it offers a complete image of a case of 22q11.2 deletion syndrome starting from the prenatal diagnosis (and emphasizing on the most relevant sonographic features) and, with parents not opting for termination of pregnancy, ending with the newborn surviving major cardiac surgery, offering thus the possibility to bring into focus postnatal outcome and future expectations in similar cases.

| S-EPMC10608239 | biostudies-literature

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