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Interrupted aortic arch

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https://www.readbyqxmd.com/read/28328125/two-patients-with-the-heterozygous-r189h-mutation-in-acta2-and-complex-congenital-heart-defects-expands-the-cardiac-phenotype-of-multisystemic-smooth-muscle-dysfunction-syndrome
#1
Thushiha Logeswaran, Christoph Friedburg, Karoline Hofmann, Hakan Akintuerk, Saskia Biskup, Michael Graef, Ali Rad, Axel Weber, Bernd A Neubauer, Dietmar Schranz, Patrice Bouvagnet, Birgit Lorenz, Andreas Hahn
De novo heterozygous mutations changing R179 to histidine, leucine, or cysteine in the ACTA2 gene are associated with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS). Characteristic hallmarks of this condition, caused only by these specific ACTA2 mutations, are congenital mydriasis (mid-dilated, non-reactive pupils), a large persistent ductus arteriosus (PDA), aortic aneurysms evolving during childhood, and cerebrovascular anomalies. We describe two patients, a 3-day-old newborn and a 26-year-old woman, with this unique mutation in association with a huge PDA and an aorto-pulmonary window...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28300017/growth-of-left-ventricular-outflow-tract-and-predictors-of-future-re-intervention-after-repair-for-ventricular-septal-defect-and-aortic-arch-obstruction
#2
Abdulraouf Jijeh, Muna Ismail, Fahad Alhabshan
Ventricular septal defect and aortic arch obstruction are usually associated with a narrow left ventricular outflow tract. The aim of the present study was to analyse the growth and predictors of future obstruction of the left ventricular outflow tract after surgical repair. METHODS: We carried out a retrospective review of patients who underwent repair for ventricular septal defect and aortic arch obstruction - coarctation or interrupted aortic arch - between July, 2002 and June, 2013...
March 16, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28300009/prenatal-diagnosis-of-aortopulmonary-window-associated-with-aberrant-subclavian-artery
#3
Adetola F Louis-Jacques, Sarah Obican, Thieu Nguyen, Anthony Odibo
Aortopulmonary window is a rare cardiac developmental anomaly characterised by a communication between the ascending aorta and the pulmonary artery. Aortopulmonary window may be isolated or associated with cardiac defects such as ventricular septal defect, atrial septal defect, interrupted aortic arch, and tetralogy of Fallot. We report a case of aortopulmonary window associated with aberrant subclavian artery based on fetal two-dimensional echocardiogram. The mother was referred for fetal echocardiography because of multiple fetal anomalies...
March 16, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28290176/valve-dehiscence-after-bentall-procedure-the-detrimental-traits-of-propionibacterium
#4
Robert A F de Lind van Wijngaarden, Richard van Valen, Jos A Bekkers, Ad J J C Bogers
The present case exemplified the detrimental traits of prosthetic valve endocarditis caused by Propionibacterium acnes. As a baby, the patient had a congenital cardiac defect with truncus arteriosus type I with interrupted aortic arch and open ductus Botalli, and had undergone several operations. However, at 18 months after a Bentall procedure performed 29 years later he presented with major prosthetic dehiscence due to endocarditis. The patient underwent a high-risk reoperation for a re-do Bentall procedure and was treated postoperatively with intravenous antibiotics consisting of vancomycin for five weeks and penicillin and rifampicin each for six weeks...
November 2016: Journal of Heart Valve Disease
https://www.readbyqxmd.com/read/28260555/stent-implantation-to-ductus-arteriosus-in-a-patient-with-interrupted-aortic-arch-guided-by-ct-image-overlay
#5
Sebastian Goreczny, Pawel Dryzek, Tomasz Moszura
A 15-day-old premature patient with ventricular septal defect and interrupted aortic arch type B underwent "hybrid" initial treatment consisting of bilateral pulmonary artery banding followed by stenting of the ductus arteriosus. A pre-registered CT scan was re-purposed with a new three-dimensional image fusion software (VesselNavigator) to create a roadmap for stent delivery.
March 6, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28260541/aortic-arch-advancement-for-type-a-interrupted-aortic-arch-with-persistent-fifth-aortic-arch-type-b
#6
Ziyad M Binsalamah, Peter Chen, Emmett D McKenzie
Persistence of the fifth aortic arch is a very rare anomaly, but is clinically relevant when it is associated with coarctation. We report a case of a neonate with type A interrupted aortic arch and severe coarctation of a persistent fifth aortic arch, which was discovered after repair of a left congenital diaphragmatic hernia. The combination of anomalies was discovered intra-operatively following left thoracotomy, and was treated with aortic arch advancement. The postoperative course was uneventful.
March 6, 2017: Cardiology in the Young
https://www.readbyqxmd.com/read/28251324/middle-cerebral-artery-aneurysm-rupture-in-a-neonate-with-interrupted-aortic-arch-case-report
#7
Joaquin Hidalgo, James Charles Dickerson, Brandon Burnsed, Ali Luqman, James Mason Shiflett
INTRODUCTION: Arterial cerebral aneurysms in the neonatal population are rare, and while the association of interrupted aortic arch and intracranial aneurysm has been reported in the adult and pediatric population (three cases each), to date, it has not been reported in the neonate. CASE REPORT: We report the case of a 26-day-old girl who presented with a generalized seizure 2 weeks after undergoing congenital heart surgery. Head CT revealed diffuse SAH with a 1...
March 1, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28174644/interstitial-deletion-of-chromosome-1-1p21-1p12-in-an-infant-with-congenital-diaphragmatic-hernia-hydrops-fetalis-and-interrupted-aortic-arch
#8
Masitah Ibrahim, Matthew Hunter, Lucy Gugasyan, Yuen Chan, Atul Malhotra, Arvind Sehgal, Kenneth Tan
We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA.
February 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28161345/interruption-of-the-aortic-arch
#9
Nicolas Combes, Victor Waldmann, François Heitz, Eric Bruguiere, Jean-François Quedreux, Olivier Vahdat, Pascal Chambran, Kumar Narayanan, Eloi Marijon
No abstract text is available yet for this article.
February 2, 2017: American Journal of Medicine
https://www.readbyqxmd.com/read/28148317/echocardiography-of-coarctation-of-the-aorta-aortic-arch-hypoplasia-and-arch-interruption-strategies-for-evaluation-of-the-aortic-arch
#10
REVIEW
Suma P Goudar, Sanket S Shah, Girish S Shirali
Aim Echocardiography is the modality of choice for the diagnosis and serial follow-up of aortic arch pathology. In this article, we review the types of obstruction of the aortic arch, various classification schemes of coarctation of the aorta and interrupted aortic arch, methodology for optimal echocardiographic imaging of the aortic arch, and key echocardiographic measurements for accurate diagnosis of obstruction and hypoplasia of the aortic arch. Finally, we will discuss the limitations of echocardiography in optimal imaging of the aortic arch and the use of other non-invasive imaging modalities such as CT or MRI to provide additional information in these cases...
December 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/28139013/aortopulmonary-window-morphology-diagnosis-and-long-term-results
#11
Sachin Talwar, Palkesh Agarwal, Shiv Kumar Choudhary, Shyam Sunder Kothari, Rajnish Juneja, Anita Saxena, Balram Airan
OBJECTIVE: Aortopulmonary window (APW) is a rare congenital heart defect. We reviewed our experience with this condition over the last two decades. METHODS: Between September 1993 and December 2013, 62 patients underwent surgery for APW. Depending on the associated lesions, they were divided into two groups: Simple (Group 1) or complex (Group 2). In the complex group, six patients had a ventricular septal defect, five patients had interrupted aortic arch, three patients had tetralogy of Fallot, two patients had double outlet right ventricle, and one patient had the right pulmonary artery arising from the ascending aorta...
January 30, 2017: Journal of Cardiac Surgery
https://www.readbyqxmd.com/read/28089641/current-outcomes-of-one-stage-surgical-correction-for-berry-syndrome
#12
Renjie Hu, Wen Zhang, Xinrong Liu, Wei Dong, Hongbin Zhu, Haibo Zhang
OBJECTIVES: Berry syndrome is a combination of distal aortopulmonary window (APW), aortic origin of the right pulmonary artery (RPA), intact ventricular septum, and interrupted aortic arch. We present here our current experience of primary repair of this syndrome with the goal of optimizing treatment for this rare condition. METHODS: From January 2003 through December 2015, 16 infants with Berry syndrome underwent one-stage repair at Shanghai Children's Medical Center...
December 19, 2016: Journal of Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28066610/the-application-of-autologous-pulmonary-artery-in-surgical-correction-of-complicated-aortic-arch-anomaly
#13
Shusheng Wen, Jianzheng Cen, Jimei Chen, Gang Xu, Biaochuan He, Yun Teng, Jian Zhuang
BACKGROUND: In the patients with longer-segment aortic arch hypoplasia or interruption with ventricular septal defect, surgery with homograft vessel or autologous pericardial patch to augment descending aortic arch will not result in adverse reactions caused by end-to-end anastomosis. In this study, we retrospectively analyzed primary experience of surgical correction of complicated aortic arch anomaly with autologous main pulmonary artery. METHODS: From July 2010 to March 2016, the twenty-one cases of aortic arch complex anomalies were reconstructed with autologous main pulmonary artery...
November 2016: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/28043468/outcomes-of-truncus-arteriosus-repair-in-children-35-years-of-experience-from-a-single-institution
#14
Phillip S Naimo, Tyson A Fricke, Matthew S Yong, Yves d'Udekem, Andrew Kelly, Dorothy J Radford, Andrew Bullock, Robert G Weintraub, Christian P Brizard, Igor E Konstantinov
We evaluated the long-term outcomes following repair of truncus arteriosus (TA) from a single institution. We conducted a retrospective review of children (n = 171) who underwent TA repair between 1979 and 2014. Early mortality rate was 11.7% (20/171). There were 19 late deaths. Most deaths (74%, 29/39) occurred within the first year following surgery. The 1-year mortality rate in 1979-2004 was 18% (25/136) and decreased to 11% (4/35) in 2005-2014. The overall survival rate was 73.6% at 30 years. Multivariate analysis identified postoperative extracorporeal membrane oxygenation (P = 0...
July 2016: Seminars in Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/28003674/prenatal-diagnosis-of-interrupted-aortic-arch-usefulness-of-three-vessel-and-four-chamber-views
#15
Yumika Hirano, Hisashi Masuyama, Kei Hayata, Eriko Eto, Etsuko Nobumoto, Yuji Hiramatsu
Interrupted aortic arch (IAA) is fatal if not diagnosed. Prenatal diagnosis is helpful, but it is difficult to detect IAA and even more so to differentiate types A and B prenatally. Our objectives were to find a way to detect IAA using 2 views-three-vessel view (3VV) and four-chamber view (4CV)-and to differentiate between types A and B. We retrospectively analyzed fetal echocardiographic images and medical records of eight IAA patients. All eight patients had a ventricular septal defect (VSD) on 4CV. The aorta/main pulmonary artery (Ao/MPA) diameter ratio on 3VV was significantly low, which is characteristic of type B IAA...
December 2016: Acta Medica Okayama
https://www.readbyqxmd.com/read/27957375/cardiovascular-malformations-in-charge-syndrome-with-digeorge-phenotype-two-case-reports
#16
Kazushi Yasuda, Eiji Morihana, Naoki Fusazaki, Shiro Ishikawa
Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27893194/incidence-morphology-and-progression-of-bicuspid-aortic-valve-in-pediatric-and-young-adult-subjects-with-coexisting-congenital-heart-defects
#17
Talha Niaz, Joseph T Poterucha, Jonathan N Johnson, Cecilia Craviari, Thomas Nienaber, Jared Palfreeman, Frank Cetta, Donald J Hagler
BACKGROUND: Bicuspid aortic valve (BAV) occurs both as an isolated cardiac lesion and in association with congenital heart defects (CHD). Their aim was to identify the incidence and morphology of BAV in patients with coexisting CHD and compare their disease progression to patients with isolated BAV. METHODS: The Mayo Clinic echocardiography database was retrospectively analyzed to identify pediatric and young adult patients (≤22 years) who were diagnosed with BAV from 1990 to 2015...
November 28, 2016: Congenital Heart Disease
https://www.readbyqxmd.com/read/27860551/congenital-variants-and-anomalies-of-the-aortic-arch
#18
Kate Hanneman, Beverley Newman, Frandics Chan
Congenital variants and anomalies of the aortic arch are important to recognize as they may be associated with vascular rings, congenital heart disease, and chromosomal abnormalities, and can have important implications for prognosis and management. The purpose of this article is to review cross-sectional imaging techniques used in the evaluation of the aortic arch, describe the embryology and anatomy of the aortic arch system, discuss aortic arch variants and anomalies, and review other malformations of the aortic arch, including interrupted aortic arch, hypoplastic aortic arch, and aortic coarctation...
January 2017: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27843801/interrupted-aortic-arch-with-isolated-persistent-left-superior-vena-cava-in-patient-with-turners-syndrome
#19
M Obadah Kattea, Osama A Smettei, Abdulrahman Kattea, Rami M Abazid
We present a case of 13-year-old female with Turner syndrome (TS), who presented with unexplained lower limbs swelling and ejection systolic murmur at the left second intercostal space. Suspicion of mild aortic coarctation was made by echocardiography. Computed tomography angiography (CTA) showed a complete interruption of the aortic arch (IAA) below the left subclavian artery with persistent left superior vena cava (PLSVC) and absent right SVC, defined as an isolated PLSVC. The patient underwent successful surgical correction after unsuccessful trial of transcatheter stent placement...
October 2016: Avicenna Journal of Medicine
https://www.readbyqxmd.com/read/27821787/arterial-cannulation-and-cerebral-perfusion-strategies-for-aortic-arch-operations
#20
REVIEW
Lisa S Foley, Katsuhiro Yamanaka, T Brett Reece
Neurologic injuries following aortic arch operations can be devastating, with stroke occurring in up to 12% of elective operations and significant cerebral dysfunction occurring in up to 25% of cases. The primary challenge unique to aortic arch operations involves interruption of direct perfusion of the brachiocephalic vessels during arch reconstruction. For this reason, neuroprotection is paramount. The 2 main modes of protection are (1) reducing metabolic demand through hypothermia and (2) limiting, or even eliminating, the ischemic period...
December 2016: Seminars in Cardiothoracic and Vascular Anesthesia
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