Diagnosis of Interrupted Aortic Arch in an Adult during Coronary Artery Evaluation.
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ABSTRACT:
SUBMITTER: Jeon KH
PROVIDER: S-EPMC8318814 | biostudies-literature |
REPOSITORIES: biostudies-literature
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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).
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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.
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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.
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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.
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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
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.
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Project description:Background:The purpose of this study was to investigate the correlation of the extent of aortic arch calcification (AAC) detectable on chest X-rays with the severity of coronary artery disease (CAD) as evaluated by the SYNTAX score (SS) in patients with acute coronary syndrome (ACS). Methods:A total of 1,418 patients (344 women; 59 ± 10 years) who underwent coronary angiography for ACS and were treated with coronary revascularization were included in the present study; chest X-rays were performed on admission. The AAC extent was divided into four grades (0-3). SS was calculated based on each patient's coronary angiographic findings. The relationship between the AAC extent and SS was assessed. Results:The AAC extent was positively correlated with SS (? = 0.639, P < 0.001). In the multivariate analysis, compared with grade 0, odds ratios (ORs) of AAC grades 1, 2, and 3 in predicting SS >22 were 12.95 (95% CI, 7.85-21.36), 191.76 (95% CI, 103.17-356.43), and 527.81 (95% CI, 198.24-1405.28), respectively. Receiver operating characteristic curve analysis yielded a strong predictive ability of the AAC extent for SS >22 (area under curve = 0.840, P < 0.001). Absence of AAC had a sensitivity, specificity, positive prognostic value, negative prognostic value, and accuracy of 46.7%, 95.9%, 94.1%, 56.4%, and 67.3%, respectively, for SS ?22. AAC grades ?2 had a sensitivity of 66.3%, specificity of 89.2%, positive prognostic value of 81.5%, negative prognostic value of 78.6%, and accuracy of 79.6% for the correct identification of SS >22. Conclusions:The extent of AAC detectable on chest X-rays might provide valuable information in predicting CAD severity in ACS patients.
| S-EPMC6702823 | biostudies-literature