Prenatal diagnosis of de novo interstitial deletions involving 5q23.1–q23.3 and 18q12.1–q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect

Gene ◽  
2013 ◽  
Vol 531 (2) ◽  
pp. 496-501 ◽  
Author(s):  
Chih-Ping Chen ◽  
Ming-Chao Huang ◽  
Yi-Yung Chen ◽  
Schu-Rern Chern ◽  
Peih-Shan Wu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Atrial Septal Defect ◽  
Aortic Arch ◽  
Septal Defect ◽  
Array Cgh ◽  
De Novo ◽  
Interrupted Aortic Arch

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

2003 ◽  
Vol 11 (3) ◽  
pp. 250-254 ◽  
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.

Surgical repair of interrupted aortic arch with ventricular septal defect

1998 ◽  
Vol 8 (2) ◽  
pp. 217-220 ◽  
Author(s):  
Lindsey D Allan ◽  
Howard D Apfel ◽  
Yosef Levenbrown ◽  
Jan M Quaegebeur
Keyword(s):  
Ventricular Septal Defect ◽  
Aortic Arch ◽  
Septal Defect ◽  
Ventricular Outflow Tract ◽  
Interrupted Aortic Arch ◽  
Left Ventricular ◽  
Subaortic Stenosis ◽  
Current Debate ◽  
Aortic Orifice

AbstractBackgroundInterrupted aortic arch is often associated with subaortic narrowing and hypoplasia of the aortic orifice. The best surgical strategy for the management of these additional lesions is a matter of current debate.Methods and ResultsBetween 1986 and 1996, 19 patients underwent repair of interrupted aortic arch with closure of ventricular septal defect in a single stage, with no attempt at subaortic resection, irrespective of the dimensions of the left ventricular outflow tract. There was no perioperative hospital mortality, and all patients were alive at 1 year. Follow-up ranges from 0.75 −10 years, with a mean 4.2 ± 3.0 years. Seven patients (37%) have required reintervention for relief of subaortic stenosis, 2 of whom have died.ConclusionsOur results suggest that primary one-stage biventricular repair can be accomplished with low perioperative mortality without addressing the subaortic region. Further long-term follow-up will determine whether this is accomplished at the expense of later morbidity and mortality.

Echocardiographic assessment of interrupted aortic arch

1999 ◽  
Vol 9 (6) ◽  
pp. 562-571 ◽  
Author(s):  
Renate Kaulitz ◽  
Richard A. Jonas ◽  
Mary E. van der Velde
Keyword(s):  
Ventricular Septal Defect ◽  
Aortic Arch ◽  
Surgical Procedure ◽  
Septal Defect ◽  
Heart Defects ◽  
Interrupted Aortic Arch ◽  
Additional Information ◽  
Intracardiac Repair ◽  
Direct Anastomosis ◽  
Operative Notes

AbstractBackgroundIn patients with interrupted aortic arch echocardiography provides detailed information about the anatomy of the aortic arch and the associated cardiac anomalies. Only a few reports have evaluated the reliability of this non-invasive diagnostic procedure by correlation with angiographic and surgical findings.MethodsFrom 1988 through 1993, 45 infants with interrupted arch underwent surgical repair (mean age 13.02 days). Of the patients, 33 had interruption of the arch between the left common carotid and subclavian arteries; 25 patients had a ventricular septal defect, and the remaining 20 had coexisting complex congenital heart defects. Preoperative diagnosis was made exclusively by echocardiography in 25 of the patients. Accuracy of echocardiographic diagnosis was evaluated retrospectively by comparing preoperative studies with angiography and surgical reports. We then investigated whether the morphologic features of the interrupted arch might influence surgical procedure or outcome.ResultsIntracardiac anatomy was accurately diagnosed by echocardiography in all cases; in 2 patients angiography provided additional information concerning the morphology of the aortic arch. Operative notes described differences in morphology of the arch in 7 patients, but these did not influence the surgical procedure. Direct anastomosis of the interrupted segments was possible in 38 patients, and 36 patients underwent primary intracardiac repair. Echocardiographic measurements revealed that the diameter of the ascending aorta was related to the number of vessels originating from the proximal aortic arch. The distance between the interrupted segments was significantly different according to the site of interruption, but not between cases with an isolated ventricular septal defect versus those with complex heart disease. It did not influence the method of arch repair, nor was it related to recurrent or residual obstruction.ConclusionPreoperative echocardiography offers accurate and complete diagnosis in the critically ill neonate with interrupted aortic arch and associated intracardiac abnormalities.

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