An Unusual Association: Total Anomalous Pulmonary Venous Return and Aortic Arch Obstruction in Patients with Cat Eye Syndrome

AbstractCat eye syndrome (CES) is a rare genetic defect, characterized by iris colobomas, preauricular skin tags, and anal malformations. Affecting 1 in 150,000 people, this defect is caused by duplication or triplication of the proximal long (q) arm of chromosome 22. Congenital heart disease is associated with CES. One of the most common heart defects in patients with CES is total anomalous pulmonary venous return (TAPVR). We report patients with a rare association of concomitant TAPVR and aortic arch obstruction: one with interrupted aortic arch and the other with coarctation of the aorta with an aberrant right subclavian artery.

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One-Stage Repair of Cardiac and Arch Anomalies without Circulatory Arrest

Asian Cardiovascular and Thoracic Annals ◽

10.1177/021849230301100315 ◽

2003 ◽

Vol 11 (3) ◽

pp. 250-254 ◽

Cited By ~ 1

Author(s):

Kona Samba Murthy ◽

Robert Coelho ◽

Christopher Roy ◽

Snehal Kulkarni ◽

Benjamin Ninan ◽

...

Keyword(s):

Ventricular Septal Defect ◽

Aortic Arch ◽

Septal Defect ◽

Circulatory Arrest ◽

Coarctation Of The Aorta ◽

Innominate Artery ◽

Double Outlet Right Ventricle ◽

Interrupted Aortic Arch ◽

Ischemic Time ◽

Arch Obstruction

Between 1999 and 2002, 23 patients underwent single-stage complete repair of cardiac anomalies and aortic arch obstruction, without circulatory arrest. Median age was 1.2 years. Intracardiac defects included ventricular septal defect in 9, double-outlet right ventricle in 6, d-transposition of the great arteries and ventricular septal defect in 2, subaortic obstruction in 3, and atrial septal defect in 3. Fourteen patients had coarctation of the aorta, 6 had coarctation with hypoplastic aortic arch, and 3 had interrupted aortic arch. Simple techniques were employed such as cannulation of the ascending aorta near the innominate artery and maintaining cerebral and myocardial perfusion. After correction of arch obstruction, intracardiac repair was undertaken. The mean cardiopulmonary bypass time was 169 min, aortic crossclamp time was 51 min, and arch repair took 16 min. There was no operative mortality or neurological deficit. In follow-up of 1–43 months, no patient had residual coarctation. This simplified technique avoids additional procedures, reduces ischemic time, and prevents problems related to circulatory arrest.

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A rare case of obstructive supracardiac TAPVR (Total Anomalous Pulmonary Venous Return) with aberrant right subclavian artery.

The Professional Medical Journal ◽

10.29309/tpmj/2021.28.07.6419 ◽

2021 ◽

Vol 28 (7) ◽

pp. 1058-1060

Author(s):

Fazal ur Rehman ◽

◽

Sabiha Khan ◽

Waqas Ali ◽

Asif Ali Khuhro ◽

...

Keyword(s):

Aortic Arch ◽

Subclavian Artery ◽

Right Atrium ◽

Venous Return ◽

Pulmonary Veins ◽

Vena Cava ◽

Aberrant Right Subclavian Artery ◽

Vertical Vein ◽

Anomalous Pulmonary Venous Return ◽

Tract Infections

Congenital aortic arch malformations manifest a broad-spectrum of differences and abnormalities that come from disturbed embryogenesis of branchial arches. Current case was a 10 months old baby girl with length of 69 cm (less than –3 SD) and weight of 5.5 kg (less than –3 SD). The patient had history of recurrent lower respiratory tract infections since the time of birth and failure to gain adequate weight since the time of birth. The patient has been having multiple check-ups with registered medical practitioners in the nearby locality and multiple courses of antibiotics with only partial resolution of symptoms. The 2-D echocardiogram showed her to be a case of supracardiac type of “Total Anomalous Pulmonary Venous Return (TAPVR)”. All pulmonary veins making a confluence and draining into the right atrium. Significant turbulence observed at the level of superior vena cava to right atrium junction. A level of obstruction was recorded at the junction of the confluence of pulmonary veins and the vertical vein. There was aberrant right subclavian artery from the aortic arch as its third branch with no obstruction or aneurysm formation, having retrotracheal and esophageal course.

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Interrupted Aortic Arch With Aortic Valve Atresia, Aorto-Pulmonary Window, Left Coronary Artery to Pulmonary Artery Fistula, and Cat Eye Syndrome

Journal of Diagnostic Medical Sonography ◽

10.1177/8756479312455862 ◽

2012 ◽

Vol 28 (6) ◽

pp. 299-302

Author(s):

Diana Ketchum ◽

Joshua Kailin ◽

Bobbie Boyd ◽

William Border

Keyword(s):

Coronary Artery ◽

Aortic Valve ◽

Pulmonary Artery ◽

Aortic Arch ◽

Left Coronary Artery ◽

Septal Defect ◽

Interrupted Aortic Arch ◽

Aberrant Right Subclavian Artery ◽

Cat Eye Syndrome ◽

Pulmonary Artery Fistula

This case study describes a newborn male infant with cat eye syndrome, found to have a rare constellation of congenital defects, which included an interrupted aortic arch, type B2 (with aberrant right subclavian artery), aortic valve atresia, aorto-pulmonary window, left coronary artery to pulmonary artery fistula, ventricular septal defect, atrial septal defect, and a restrictive patent ductus arteriosus.

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Double Arterial Cannulation in the Critical Management of Neonatal Aortic Arch Obstruction With Closed Ductus Arteriosus

World Journal for Pediatric and Congenital Heart Surgery ◽

10.1177/2150135118790944 ◽

2019 ◽

Vol 10 (1) ◽

pp. 105-108 ◽

Cited By ~ 6

Author(s):

Yuriy Y. Kulyabin ◽

Yuriy N. Gorbatykh ◽

Ilya A. Soynov ◽

Nataliya R. Nichay ◽

Alexey V. Zubritskiy ◽

...

Keyword(s):

Aortic Arch ◽

Ductus Arteriosus ◽

Coarctation Of The Aorta ◽

Good Alternative ◽

Interrupted Aortic Arch ◽

Multiple Organ ◽

Arterial Cannulation ◽

Arch Obstruction ◽

Total Body ◽

Further Development

The neonatal management of critical aortic arch obstruction in association with an arterial duct that remains closed or significantly constricted requires urgent surgical repair, with a postoperative focus on resolving the impaired function of compromised organs. Here, we present two neonatal cases illustrating the use of the dual arterial cannulation perfusion method in the complete repair of interrupted aortic arch and critical coarctation of the aorta with nonfunctional ductus arteriosus. We suggest that dual arterial cannulation, which provides total body perfusion (with the exception of cardiac perfusion during cardioplegic arrest of the heart), may be a good alternative to other perfusion strategies in cases of absent ductal blood flow, as this method allowed us to avoid the further development of severe multiple organ failure.

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

10.21516/2413-1458-2020-19-3-203-209 ◽

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.

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Study on the views and methods of ultrasonic screening and diagnosis for abnormal aortic arch in infants

Cardiovascular Ultrasound ◽

10.1186/s12947-021-00237-2 ◽

2021 ◽

Vol 19 (1) ◽

Author(s):

Xinjian He ◽

Jiaoyang Chen ◽

Gaoyang Li

Keyword(s):

Diagnostic Accuracy ◽

Aortic Arch ◽

Subclavian Artery ◽

Coarctation Of The Aorta ◽

Double Aortic Arch ◽

Aberrant Right Subclavian Artery ◽

Coincidence Rate ◽

Aortic Arch Anomalies ◽

Screening Sensitivity ◽

Axis View

Abstract Background The purpose of this study was to explore echocardiographic views and methods of aortic arch anomalies in infants, so as to improve the screening sensitivity and diagnostic accuracy. Methods 140 children with abnormal aortic arch diagnosed by ultrasound in Children’s Hospital of Hebei Province from January 2014 to December 2019 were selected for retrospective analysis. All were confirmed by surgery or/and computerized tomography angiography. Series of views for aortic arch (the three-vessel and tracheal view, aortic arch short axis view, left aortic arch long axis view, aortic arch long axis continuous scan views) were performed in all cases on the basis of the routine views of echocardiography. The screening sensitivity and diagnostic coincidence rate of different echocardiographic views for aortic arch anomalies were analyzed. Results Among the 140 infants, right aortic arch were 21 cases (6/21 were accompanied by mirror branch and 15/21 were with aberrant left subclavian artery). Left aortic arch with aberrant right subclavian artery were 2 cases, and double aortic arch with both arches open were 20 cases. Double aortic arch with left arch atresia were 2 cases, and atresia of the proximal aorta with aortic arch dysplasia was 1 case. Coarctation of the aorta were 67 cases, and interruption of aortic arch were 27 cases. All the patients were correctly diagnosed except that 2 infants with interruption of aortic arch were incorrectly diagnosed as coarctation of the aorta, and 1 infant with coarctation of the aorta was misdiagnosed as interruption of aortic arch by echocardiography. The screening sensitivities of four views and four-view combination for abnormal aortic arch were 99.3, 73.6, 87.1, 99.3, and 100%; the diagnostic coincidence rates were 85.7, 27.1,66.4, 95.0%, and 97.9% respectively. On the basis of traditional left aortic long axis view, other three views had their own advantages. The screening sensitivity and diagnostic coincidence rate of four-view combination were significantly improved. Conclusions The three-vessel trachea view is simple and feasible, which is suitable for screening abnormal aortic arch. The combination of four views conduces to improving screening sensitivity and diagnostic accuracy of aortic arch abnormalities.

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Hospital Outcomes Among Infants With Interrupted Aortic Arch With Simple and Complex Associated Heart Defects

The American Journal of Cardiology ◽

10.1016/j.amjcard.2021.11.032 ◽

2021 ◽

Author(s):

Aura Andrea Sanchez Mejia ◽

Neil Cambronero ◽

Deepa Dongarwar ◽

Hamisu Mohammed Salihu ◽

Maria Anita Vigil-Mallette ◽

...

Keyword(s):

Aortic Arch ◽

Heart Defects ◽

Interrupted Aortic Arch ◽

Hospital Outcomes

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Transcatheter mechanical thrombectomy of neonatal occlusive aortic thrombus using an Amplatzer Piccolo PDA occluder

Cardiology in the Young ◽

10.1017/s1047951121003267 ◽

2021 ◽

pp. 1-3

Author(s):

Christopher Herron ◽

Stuart Covi ◽

Athina Pappas ◽

Daisuke Kobayashi

Keyword(s):

Aortic Arch ◽

Critical Condition ◽

Mechanical Thrombectomy ◽

Coarctation Of The Aorta ◽

Premature Neonate ◽

Interrupted Aortic Arch ◽

Thromboembolic Events ◽

Descending Aorta ◽

Aortic Thrombus

Abstract Neonatal aortic thrombus is a rare and critical condition that can present mimicking severe coarctation of the aorta or interrupted aortic arch. Transcatheter thrombectomy for this lesion has not been well described. We report a premature neonate with an occlusive proximal descending aorta thrombus, who underwent transcatheter mechanical thrombectomy using an Amplatzer Piccolo PDA occluder (Abbott, North Chicago, IL, USA). The procedure was successful with no subsequent distal thromboembolic events.

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