scholarly journals 6q21–22 deletion syndrome with interrupted aortic arch

2015 ◽  
Vol 2 (1) ◽  
Author(s):  
Ayumi Matsumoto ◽  
Yasuyuki Nozaki ◽  
Takaomi Minami ◽  
Eriko F Jimbo ◽  
Hirohiko Shiraishi ◽  
...  
Keyword(s):  
Aortic Arch ◽  
Interrupted Aortic Arch ◽  
Deletion Syndrome

Conotruncal heart defects and aortic arch anomalies in fetuses with 22q11.2 deletion syndrome

2020 ◽  
Author(s):  
I.V. Novikova, O.M. Khurs, T.V. Demidovich et all
Keyword(s):  
Aortic Arch ◽  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Ventricular Outflow Tract ◽  
Double Outlet Right Ventricle ◽  
Interrupted Aortic Arch ◽  
Left Ventricular ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Aortic Arch Anomalies

16 second trimester fetuses with 22q11.2 deletion syndrome have been examined at anatomic-pathological investigation. Main cardiovascular diseases were ascending aorta hypoplasia with aortic valve stenosis (n = 6; 37.5%), truncus arteriosus (n = 5; 31.25%), tetralogy of Fallot (n = 3; 18.75%) and double-outlet right ventricle (n = 1; 6.25%). Ventricular septal defect was present in 16 cases. Associated aortic arch anomalies included interrupted aortic arch (n = 9; 56.25%), right aortic arch (n = 6; 37.5%), retroesophageal ring (n = 1; 6.25%) and aberrant right subclavian arteria (n = 5; 31.25%). 5 fetuses had left ventricular outflow tract obstructive lesions with interrupted aortic arch of type B combined with aberrant right subclavian arteria.

Perioperative and Anesthetic Considerations in Interrupted Aortic Arch

2018 ◽  
Vol 22 (3) ◽  
pp. 270-277 ◽  
Author(s):  
Nelson Burbano-Vera ◽  
Katherine L. Zaleski ◽  
Gregory J. Latham ◽  
Viviane G. Nasr
Keyword(s):  
Aortic Arch ◽  
Anesthetic Management ◽  
Ductus Arteriosus ◽  
Strong Association ◽  
Interrupted Aortic Arch ◽  
Left Ventricular ◽  
Deletion Syndrome ◽  
Ventricular Outflow Obstruction ◽  
Left Ventricular Outflow ◽  
And Function

Interrupted aortic arch (IAA) is defined as the loss of luminal continuity between the ascending and descending aorta and is classified based on the anatomic level of interruption. IAA is associated with a number of intracardiac anomalies with the most common being patent ductus arteriosus, ventricular septal defect, and left ventricular outflow obstruction. There is also a strong association between type B interruption and 22q11 deletion syndrome. The perioperative management of the neonate with IAA begins in the intensive care unit with optimization of end-organ perfusion and function. Survival depends on the prompt initiation of prostaglandin E1 in order to maintain ductal patency, careful management of the patient’s ratio of pulmonary to systemic blood flow (Qp:Qs), and a thorough understanding of the physiologic implications of the surgical plan, type of interruption, and associated syndromes and anomalies. This review will focus on the anatomy, physiology, and perioperative anesthetic management considerations specific to the management of IAA.

scholarly journals Pax9 and Gbx2 Interact in the Pharyngeal Endoderm to Control Cardiovascular Development

2020 ◽  
Vol 7 (2) ◽  
pp. 20
Author(s):  
Catherine A. Stothard ◽  
Silvia Mazzotta ◽  
Arjun Vyas ◽  
Jurgen E. Schneider ◽  
Timothy J. Mohun ◽  
...  
Keyword(s):  
Aortic Arch ◽  
Regulatory Networks ◽  
Genetic Interaction ◽  
Heart Defects ◽  
Double Outlet Right Ventricle ◽  
Interrupted Aortic Arch ◽  
Deletion Syndrome ◽  
Cardiovascular Development ◽  
Pharyngeal Endoderm ◽  
Regulated Gene Expression

The correct formation of the aortic arch arteries depends on a coordinated and regulated gene expression profile within the tissues of the pharyngeal arches. Perturbation of the gene regulatory networks in these tissues results in congenital heart defects affecting the arch arteries and the outflow tract of the heart. Aberrant development of these structures leads to interruption of the aortic arch and double outlet right ventricle, abnormalities that are a leading cause of morbidity in 22q11 Deletion Syndrome (DS) patients. We have recently shown that Pax9 functionally interacts with the 22q11DS gene Tbx1 in the pharyngeal endoderm for 4th pharyngeal arch artery morphogenesis, with double heterozygous mice dying at birth with interrupted aortic arch. Mice lacking Pax9 die perinatally with complex cardiovascular defects and in this study we sought to validate further potential genetic interacting partners of Pax9, focussing on Gbx2 which is down-regulated in the pharyngeal endoderm of Pax9-null embryos. Here, we describe the Gbx2-null cardiovascular phenotype and demonstrate a genetic interaction between Gbx2 and Pax9 in the pharyngeal endoderm during cardiovascular development.

scholarly journals Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports

2016 ◽  
Vol 2016 ◽  
pp. 1-6
Author(s):  
Kazushi Yasuda ◽  
Eiji Morihana ◽  
Naoki Fusazaki ◽  
Shiro Ishikawa
Keyword(s):  
Aortic Arch ◽  
Gene Mutation ◽  
22Q11.2 Deletion Syndrome ◽  
Charge Syndrome ◽  
Interrupted Aortic Arch ◽  
Deletion Syndrome ◽  
Type B ◽  
Cardiovascular Malformations ◽  
22Q11.2 Deletion ◽  
Dysmorphic Features

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 22q11.2 is found in more than 95% of patients with 22q11.2 deletion syndrome. CHARGE syndrome is occasionally accompanied by DiGeorge phenotype. We report two patients with dysmorphic features of both CHARGE syndrome and 22q11.2 deletion syndrome. Although both of the two cases did not have 22q11.2 deletion, they had typical dysmorphic features of 22q11.2 deletion syndrome including cardiovascular malformations such as interrupted aortic arch type B. They also had characteristic features of CHARGE syndrome including ear malformation, genital hypoplasia, limb malformation, and endocrinological disorders. CHD7 gene mutation was confirmed in one of the two cases. When a patient with cardiovascular malformations frequently associated with 22q11.2 deletion syndrome does not have 22q11.2 deletion, we suggest that associated malformations characteristic of CHARGE syndrome should be searched for.

Type B Interrupted Aorta in an Adult Patient

2014 ◽  
Vol 17 (2) ◽  
pp. 80
Author(s):  
Ahmet Ozkara ◽  
Mehmet Ezelsoy ◽  
Levent Onat ◽  
Ilhan Sanisoglu
Keyword(s):  
Cardiopulmonary Bypass ◽  
Aortic Arch ◽  
Collateral Circulation ◽  
Neonatal Period ◽  
Interrupted Aortic Arch ◽  
Complete Loss ◽  
Posterolateral Thoracotomy ◽  
Type B ◽  
Case Presentation ◽  
Descending Aorta

<p><b>Introduction:</b> Interrupted aortic arch is a rare congenital malformation characterized by a complete loss of luminal continuity between the ascending and descending aorta. It is often diagnosed during the neonatal period.</p><p><b>Case presentation:</b> We presented a 51-year-old male patient with interrupted aortic arch type B who was treated successfully with posterolateral thoracotomy without using cardiopulmonary bypass.</p><p><b>Conclusion:</b> The prognosis for interrupted aortic arch depends on the associated congenital anomalies, but the outcome is usually very poor unless there is surgical treatment. Survival into adulthood depends on the development of collateral circulation.</p>

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