Prenatal diagnosis of interrupted aortic arch using high-definition flow render mode and spatiotemporal image correlation.

OBJECTIVES: To evaluate the clinical utility of two dimensional (2D) ultrasound combined with spatiotemporal image correlation (STIC) in diagnosing interrupted aortic arch (IAA) in fetal life. METHODS: A total of 53 cases of fetal IAA were diagnosed using 2D ultrasound combined with STIC, and 53 normal fetuses of the same gestational week were selected. These cases were retrospectively analyzed to assess the utility of employing 2D ultrasound combined with STIC in the diagnosis of IAA. RESULTS: 2D ultrasound combined with STIC detected 22 cases of type A IAA, 24 cases of type B IAA, and seven cases of type C IAA. Furthermore, combining 2D ultrasound with STIC enabled dynamic visualization of the IAA, aiding in prenatal diagnosis. The diagnostic coincidence rate of IAA was found to be higher in the HD-flow combined with STIC than that in the 2D combined with HD-flow. CONCLUSION: HD-flow combined with STIC can assist in diagnosing fetal IAA, and this technique has important clinical value.

Human Genetics of Semilunar Valve and Aortic Arch Anomalies.

Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic valve disease will be discussed including the key role of NOTCH1 mutations. In addition, the complex trait of bicuspid aortic valve disease will be outlined, both in sporadic/familial cases and in the context of associated syndromes, such as Alagille, Williams, and Kabuki syndromes. Aortic arch abnormalities particularly coarctation of the aorta and interrupted aortic arch, including their association with syndromes such as Turner and 22q11 deletion, respectively, are also discussed. Finally, the genetic basis of congenital pulmonary valve stenosis is summarized, with particular note to Ras-/mitogen-activated protein kinase (Ras/MAPK) pathway syndromes and other less common associations, such as Holt-Oram syndrome.

Clinical Outcomes and Echocardiographic Predictors of Reintervention After Interrupted Aortic Arch Repair.

Left ventricular outflow tract obstruction (LVOTO) remains a significant complication after primary repair of interrupted aortic arch with ventricular septal defect (IAA-VSD). Clinical and echocardiographic predictors for LVOTO reoperation are controversial and procedures to prophylactically prevent future LVOTO are not reliable. However, it is important to identify the patients at risk for future LVOTO intervention after repair of IAA-VSD. Patients who underwent single-stage IAA-VSD repair at our center 2006-2021 were retrospectively reviewed, excluding patients with associated cardiac lesions. Two-dimensional measurements, LVOT gradients, and 4-chamber (4C) and short-axis (SAXM) strain were obtained from preoperative and predischarge echocardiograms. Univariate risk analysis for LVOTO reoperation was performed using unpaired t-test. Thirty patients were included with 21 (70%) IAA subtype B and mean weight at surgery 3.0 kg. Repair included aortic arch patch augmentation in 20 patients and subaortic obstruction intervention in three patients. Seven (23%) required reoperations for LVOTO. Patient characteristics were similar between patients who required LVOT reoperation and those who did not. Patch augmentation was not associated with LVOTO reintervention. Patients requiring reintervention had significantly smaller LVOT AP diameter preoperatively and at discharge, and higher LVOT velocity, smaller AV annular diameter, and ascending aortic diameter at discharge. There was an association between LVOT-indexed cross-sectional area (CSAcm2/BSAm2) ≤ 0.7 and reintervention. There was no significant difference in 4C or SAXM strain in patients requiring reintervention. LVOTO reoperation was not associated with preoperative clinical or surgical variables but was associated with smaller LVOT on preoperative echo and smaller LVOT, smaller AV annular diameter, and increased LVOT velocity at discharge.

Successful ductal stent implantation for initial palliation in two patients with aortic atresia and interrupted aortic arch.

The coexistence of aortic valve atresia and interrupted aortic arch are an extremely rare condition. In this pathology, blood flow to the ascending aorta and coronary arteries should be provided through the ductus arteriosus or collaterals originating from the descending aorta. In rare cases where bilateral ductus arteriosus is present, they can provide circulation. Here, we report two cases in which coronary arteries and ascending aorta were supplied by one ductus arteriosus and distal systemic circulation is supplied by a second ductus arteriosus in one patient and a collateral artery in the other. Initial palliation was successfully performed by bilateral pulmonary artery banding and transcatheter ductal stent implantation in both cases.

Predictors of left ventricular outflow tract obstruction after biventricular repair in interrupted aortic arch or aortic coarctation.

BACKGROUND: Left ventricular outflow tract obstruction (LVOTO) re-intervention is a significant cause of morbidity and mortality in patients with coarctation of the aorta (CoA) or interrupted aortic arch (IAA) after aortoplasty. METHODS: This retrospective study analyzed data from neonates with IAA/CoA who underwent biventricular repair between 2012 and 2022. LVOTO events were defined by the detection of color Doppler flow acceleration ≥3.0 m/s at the valvular, subvalvular, or supravalvular regions via transthoracic echocardiography, and the necessity for surgical or catheter intervention to relieve the obstruction. RESULTS: Among 121 neonates with CoA/IAA, 16 (13.7%) primary aortoplasty patients developed LVOTO. Additionally, one patient (25%) who underwent a staged Yasui operation developed LVOTO due to a narrowed ventricular septal defect-pulmonary atresia tunnel. During follow-up, 58% of patients with a bicuspid valve and 25% of patients with a subaortic ridge developed LVOTO. The combination of either a bicuspid valve, subaortic ridge, or an aortic valve annulus Z-score < -3.0 predicted a high re-intervention rate (7/8 [87.5%]). CONCLUSIONS: In patients with IAA/CoA, the presence of multiple risk factors, including a bicuspid valve, subaortic ridge, and an aortic valve annulus Z-score < -3.0, is associated with a significantly increased rate of re-intervention for LVOTO.

Successful one-stage surgical repair in a rare adult patient with berry syndrome.

BACKGROUND: Berry syndrome is a rare congenital cardiac malformation, herein we report an adult male patient who was successfully repaired by one-stage surgery. CASE DESCRIPTION: 18-year-old male patient presenting symptoms of chest tightness and shortness for over a year presented to outpatient clinic in our department to have corrective procedure heart. CTA revealed an Aortopulmonary Window (APW) type III, measuring 4.6 cm in maximum diameter. The right pulmonary artery originated from the ascending aorta, and the pulmonary trunk exhibited dilation with dimensions of 8.3 cm × 5.7 cm × 5.9 cm. Additional findings included Interrupted Aortic Arch (IAA) type A, intact ventricular septum, and Patent Ductus Arteriosus (PDA). Echocardiography showed bidirectional shunt at the level of APW in severe pulmonary hypertension. The right heart catheterization indicated a mean pulmonary artery pressure of 70mmHg and a pulmonary artery resistance of 5 Wood units. We evaluated after two weeks of treatment with epoprostenol at a rate of 20 ng/(kg. min) and found a significant improvement in pulmonary-artery pressure. Finally, we communicated with the patient's family and decided to proceed with the procedure. CONCLUSIONS: For complex cardiovascular malformations, the ideal treatment strategy must be tailored to the characteristics of the patient to provide maximum efficacy and safety.

Hybrid First-stage Palliation and Other Strategies to Achieve Biventricular Repair in High-Risk Neonates With Complex Heart Anomalies and Aortic Arch Obstruction.

Medical and surgical advances have allowed single-stage total repair in neonates born with complex congenital heart anomalies and aortic arch obstruction. Nonetheless, total repair might be too complex or high risk in certain neonates with demographic, clinical or morphologic risk factors. Alternative management strategies might offer these neonates better outcomes with superior anatomic repair, shorter hospitalization, reduced morbidity, and improved survival. Alternative initial surgical strategies might include aortic arch repair and pulmonary artery band with or without cardiopulmonary bypass, extracardiac repair only and pulmonary artery band, Norwood operation, and hybrid first-stage palliation; all deferring complex biventricular intra-cardiac repair to later stage. The strategy choice should be personalized to each patient, taking into consideration the morphologic and clinical state, and the existent goals of care.

Tricuspid atresia and common arterial trunk: a rare form of CHD.

Tricuspid atresia with common arterial trunk is a very rare association in complex CHD. This association has even more infrequently been documented concomitantly with interrupted aortic arch. We present the diagnosis and initial surgical management of an infant with a fetal diagnosis of tricuspid atresia and common arterial trunk, with additional postnatal finding of interrupted aortic arch with interruption between the left common carotid and left subclavian artery. Due to the infant's small size, she was initially palliated with bilateral pulmonary artery bands and a ductal stent. This was followed by septation of the common arterial trunk and interrupted aortic arch repair and 4 mm right subclavian artery to main pulmonary artery shunt placement at two months of age. She was discharged home on day of life 81.

Aortic valve atresia and type C interrupted aortic arch with circle of Willis dependent circulation: a case of successful biventricular repair in the neonatal period.

We report a rare case of aortic valve atresia and type C interrupted aortic arch with retrograde filling of the ascending aorta via the right common carotid artery through intracranial collateralisation and a presumed intact circle of Willis, who successfully underwent a complete biventricular repair in the neonatal period.

Giant early post-surgical aneurysm of the aortic arch in an infant.

Ten-day-old neonate who underwent correction of interrupted aortic arch developed a giant early post-surgical aneurysm. To our knowledge, this unusual complication has been only reported as a late complication.

Use of 3D volume-rendered CT imaging in analysing the anatomy of an unusual type of common arterial trunk.

A common arterial trunk with pulmonary dominance is rare. We report the use of 3D volume-rendered CT imaging to define common arterial trunk with pulmonary arterial dominance and associated abnormalities.

The association of bicuspid aortic valve on long-term outcome following one-stage repair of aortic arch obstruction associated with ventricular septal defect.

OBJECTIVE: The aim of this study was to evaluate the association of bicuspid aortic valve on contemporary outcomes, including reoperation rates, after one-stage correction for interrupted aortic arch with ventricular septal defect or for aortic coarctation with hypoplastic aortic arch and ventricular septal defect. METHODS: Seventy-four consecutive patients (35 boys, 47% and 39 girls, 53%) with interrupted aortic arch (n = 41, 55%) or aortic coarctation with hypoplastic aortic arch (n = 33, 45%) with ventricular septal defect underwent early one-stage correction. Twenty (27%) patients had bicuspid aortic valve, and the remaining 54 (73%) had a tricuspid aortic valve. The median aortic valve annulus diameter was 6.0 mm (IQR: 2.0). Patients' median age was 7 ± 29 days (range, 2-150); median weight was 3.3 ± 0.7 kg (range, 1.5-6.0), with 21 (28%) patients <3.0 kg. Selective brain perfusion through the innominate artery and selective coronary perfusion through the aortic root during aortic arch reconstruction were used in all patients. Statistical analysis was performed using SPSS version 20.0 software (SPSS Inc., Chicago, IL, USA). RESULTS: The early mortality was 1.3%. One premature neonate died in the hospital with extracorporeal membrane oxygenation after aortic coarctation plus ventricular septal defect repair. There was no further mortality. Median follow-up was 5.7 years (IQR: 10.48). Reinterventions occurred in 36 (49%) patients: balloon angioplasty in 18 (24%) patients, reoperations in 4 (5%) patients, and both in 14 (19%) patients. A total of 86 follow-up procedures were required in these 36 (49%) patients: aortic valve valvulopasty (n = 6, 8%), stent implantation (n = 8, 11%), balloon dilatation (n = 39, 53%), and reoperation (n = 33, 45%). The median time to reinterventions was 9.094 years (SE 0.890). A potential risk factor for reintervention after interrupted aortic arch and aortic coarctation with ventricular septal defect repair was bicuspid aortic valve (p = 0.019, Chi2 (1) = 5.457). In addition, a multivariate Cox analysis with backward selection and significance level <0.015 was applied to all variables that showed significant effects in univariable analyzes. This regression confirmed that bicuspid aortic valve (HR = 0.381, p = .016), and interrupted aortic arch (HR = 0.412, p = 0.043) were predictors of late reintervention. All patients had no obvious neurologic impairment in routine examinations at last follow-up. CONCLUSION: Bicuspid aortic valve was a significant risk factor for valve-related reintervention after one-stage repair for aortic arch obstruction with ventricular septal defect due to later development of stenosis associated with higher late morbidity and mortality. Particularly neonates with bicuspid aortic valve will possibly require reintervention in the future. Regular lifelong cardiac follow-up is recommended.

Invited commentary to one-stage repair of transposition complex and interrupted aortic arch in children.

The management of patients with transposition complex in combination with an interrupted aortic arch (IAA) presents a technical challenge to the surgeon to decide which is the best approach to correct both defects. This is a rare disorder and with significant variation in anatomic arrangements deciding on the ideal surgical repair. Over time, a single-stage approach to repair has become standard.

Novel interrupted aortic arch: A case report.

BACKGROUND AND AIM OF THE STUDY: Interrupted aortic arch (IAA) is a rare and fatal malformation. Most patients with IAA are diagnosed in early childhood because of the severity of their symptoms. IAA is classified into three morphologic types (A, B, or C), depending on the site of the interruption. In our case, this patient did not have a common brachiocephalic trunk, left carotid artery, or left subclavian artery, IAA classification of this case cannot be judged based on the existing interruption method. METHODS: We present a 6-year-old Chinese boy with a history of neck masses since birth, and an echocardiogram from a local county hospital revealing an IAA without any cardiac anomalies, was referred to our hospital. RESULTS: The patient was feeling good and was nearly asymptomatic. Computed tomography angiography was performed, which indicated an absent aortic arch, likely due to disruption during development, and aortic discontinuity. The ascending aorta gave rise to both carotid arteries, and the descending aorta was supplied by large subclavian arteries. The right vertebral artery was supplied by right large collateral vessels that connected the right carotid artery. The left side was similar in structure to the right side. The descending aorta was supplied by large subclavian arteries. The subclavian arteries and carotid arteries were connected by large collateral vessels. Due to the large collateral vessels, the child's lower body had sufficient blood supplied, so that the typical differential cyanosis did not occur, and the child without symptomatic can survive to now. CONCLUSIONS: This patient did not have a common brachiocephalic trunk, left carotid artery, or left subclavian artery. Maybe, this patient belonged to a new type of IAA.

One-stage repair of transposition complex and interrupted aortic arch in children.

BACKGROUND/AIM: A transposition complex with an interrupted aortic arch (IAA) is rare and surgically challenging because of its anatomical diversity and complexity. Herein, we aimed to present our 20-year experience with one-stage arterial switch surgery associated with IAA repair. METHODS: From January 2000 to April 2017, 11 patients were diagnosed with transposition complex and IAA and underwent one-stage repair at our center. These patients were retrospectively reviewed. Two patients had transposition of the great arteries, while the others had double outlet right ventricles, of whom eight had subpulmonary ventricular septal defects (VSDs; Taussig-Bing anomalies), and one had a noncommitted VSD. In terms of the IAA, three patients underwent repair by extended end-to-end anastomosis, and one 16-mm prosthetic vascular graft was replaced in an elder patient. The remaining patients underwent autologous pericardial patch enlargement. All the variables were summarized and reported with descriptive statistics. RESULTS: Three early deaths occurred in this study. The median follow-up time was approximately 5 years (range: 3-14 years). No late deaths were reported. Only one patient required percutaneous re-intervention for recurrent coarctation. Moderate aortic regurgitation was observed in three patients. However, there was no requirement for aortic valvuloplasty or valve replacement. One patient had more than moderate tricuspid regurgitation. The other survivors are presently healthy. CONCLUSIONS: Although one-stage repair for transposition complex and IAA still has non-negligible mortality even in older children, the late outcomes of survivors are acceptable. Owing to the high rate of valve regurgitation, closer follow-up is necessary for these patients.

Predictors of Left Ventricular Outflow Tract Obstruction After Conventional Repair for Patients with Interrupted Aortic Arch or Coarctation of the Aorta, Combined with Ventricular Septal Defect: A Single-Center Experience.

Left ventricular outflow tract obstruction (LVOTO) affects survival and reoperation rates after surgical treatment of patients with interruption of the aortic arch (IAA) or coarctation of the aorta (CoA) with ventricular septal defect (VSD). The aim of the study was to determine predictors of LVOTO and to evaluate the relationship between aortic valve (AoV) morphology and the re-intervention rate. Retrospective review of patients, who underwent a conventional repair for IAA/CoA with VSD at a tertiary referral center between 1996 and 2017. The preoperative demographic data as well as pre- and post-operative echocardiographic parameters and re-interventions were reviewed. In the median follow-up of 8.3 years (range of 6.15-10.27) 5 patients (11.9%) from a total of 47 patients included in the study presented with a significant LVOTO. Four of them required reoperation after median period of 2.3 years (range of 0.3-7.9) after the initial surgery. Multivariable logistic regression identified AoV z-score (OR 0.44, p = 0.017) as predictor of LVOTO. The mean AoV z-score before the primary repair was significantly smaller in those with LVOTO as compared to those with unobstructed flow from the LV (- 3.58 ± 1.96 vs. - 1.44 ± 1.55; p = 0.0016). At 1-year follow-up, both groups showed an increase in the AoV z-score (p = 0.98). The re-intervention rate after primary repair (both surgical procedures and percutaneous interventions), either for LVOTO or reCoA, was higher in patients with AoV z-score ≤ - 3 (p = 0.007 vs. p = 0.46) and those, whose aortic annulus was less or equal than patient's weight (kg) + 1.5 mm as compared to those with larger aortic annulus (p = 0.03 vs. p = 0.16). In patients after surgical treatment of IAA/CoA with VSD, the AoV z-score at diagnosis is a significant risk factor for reoperation for LVOTO. With age, AoV growth and z-score improvement is expected. Small AoV at diagnosis is correlated with increased rate of re-intervention for LVOTO and reCoA.

Single ventricle palliation of truncus arteriosus with mitral atresia, interrupted aortic arch, and aberrant right subclavian artery.

The association of truncus arteriosus communis with interrupted aortic arch and mitral atresia is an exceptionally rare congenital defect. We describe the initial decision-making and management of this lesion, which eventually achieved a Fontan palliation.

Prenatal diagnosis of type A fetal interrupted aortic arch by four-dimensional echocardiography with HD-flow STIC: A case report.

Interrupted aortic arch (IAA) is a rare complex congenital heart disease characterized by interrupted continuity between ascending aorta and descending aorta. Prenatal diagnosis of IAA by echocardiography is not uncommonly reported despite its rarity. However, employing four-dimensional ultrasound HD-flow imaging and spatiotemporal image correlation (STIC) in diagnosis of this condition has seldom been reported. We report a case of fetal IAA prenatally diagnosed by two-dimensional echocardiography and HD-flow STIC.

Berry syndrome: a case report and literature review.

BACKGROUND: Berry syndrome, a rare combination of cardiac anomalies, consists of aortopulmonary window (APW); aortic origin of the right pulmonary artery; interrupted aortic arch (IAA) or hypoplastic aortic arch or coarctation of the aorta; and an intact ventricular septum. There is lack of review articles that elucidate the clinical features, diagnosis, treatment, and outcomes of Berry syndrome. This publication systematically reviews the 89 cases published since 1982 on Berry syndrome. CASE PRESENTATION: A 38-year-old woman presented with a loud murmur and cyanosis. Transthoracic echocardiography demonstrated a severely dilated aorta and main pulmonary artery with a large intervening defect. Distal to the APW, the ascending aorta gave rise to the right pulmonary artery. Additionally, a type A IAA, an intact ventricular septum, and a large patent ductus arteriosus were revealed. Computed tomography angiography with 3-dimensional reconstruction confirmed above findings. This is the first report of a patient of this age with Berry syndrome who did not undergo surgery. CONCLUSIONS: Berry syndrome is a rare but well-identified and surgically correctable anomaly. Patients with Berry syndrome should be followed up for longer periods to better characterize long-term outcomes.

Hospital Survival After Surgical Repair of Truncus Arteriosus with Interrupted Aortic Arch: Results from a Multi-institutional Database.

Truncus arteriosus (TA) is a major congenital cardiac malformation that requires surgical repair in the first few weeks of life. Interrupted aortic arch (IAA) is an associated malformation that significantly impacts the complexity of the TA operation. The aim of this study was to (1) define the comorbid conditions associated with TA and (2) determine the hospital survival and morbidity of patients with TA with and without an IAA. Data was collected from the Vizient Clinical Database/Resource Manager, formerly University HealthSystem Consortium, which encompasses more than 160 academic medical centers in the United States. The database was queried for patients admitted from 2002 to 2016 who were ≤ 4 months of age at initial admission, diagnosed with TA, and underwent complete surgical repair during that hospitalization. Of the 645 patients with TA who underwent surgery, 98 (15%) had TA with an interrupted aortic arch (TA-IAA). Both TA and TA-IAA were associated with a high prevalence of comorbidities, including DiGeorge syndrome, prematurity, and other congenital malformations. There was no difference in mortality between TA and TA-IAA (13.7-18.4%, p value = 0.227). No comorbid conditions were associated with an increased mortality in either group. However, patients with TA-IAA had a longer post-operative length of stay (LOS) compared to those without IAA (30 versus 40.3 days, p value = 0.001) and this effect was additive with each additional comorbid condition. In conclusion, the addition of IAA to TA is associated with an increased post-operative LOS, but does not increase in-hospital mortality.