PHACES syndrome and multi-regional odontodysplasia: a case report.

PHACES syndrome is an acronym for the syndromic presentation of Posterior fossa malformation, Hemangioma, Arterial anomalies, Coarctation of aorta/cardiac defects, Eye abnormalities and Sternal malformations. Infantile hemangiomas are the most common tumors of infancy. Regional odontodysplasia, commonly referred to as "ghost teeth", is a rare localized developmental malformation of enamel and dentin with varying levels of severity that results in unusual clinical and radiographic appearances of affected teeth. This report describes a rare case of a two-year-old Caucasian male diagnosed with PHACES syndrome also presenting with multi-regional odontodysplasia. Ten of twenty teeth were dysplastic. The patient was treated under general anesthesia in a hospital setting. All affected primary teeth were extracted due to sensitivity, abscess and extremely poor long-term prognosis. Moving forward, a long-term interdisciplinary approach will be necessary to address this child's dentition as it develops.

Coral reef aorta: a rare form of obstruction of the ascending aorta in adolescent with aortopathy- case report.

BACKGROUND: Supra aortic obstruction in children is uncommon and is seen in certain unique conditions. While intraluminal obstruction due to heavy calcification is seen in older populations, it is not described in pediatric populations. The coral reef aorta is a rare and distinct calcifying disease causing luminal obstruction of the suprarenal aorta in adults. The definition of this diagnosis relies entirely on the unique aspects and consistency of the lesions, which are rock-hard, irregular, gritty plaques with a white luminal surface resembling a coral reef. However, no such case has been described in children. CASE PRESENTATION: We present an adolescent boy who presented with a heavily calcified ascending aortic lesion associated with aortopathy and hypertension, 12 years after an aortic coarctation repair. The investigations included echocardiography, magnetic resonance and computer-tomographic imaging. A 3-D model was printed in order to visualize and plan surgical steps in advance for safe placement of clamps and defining the extent of resection. In addition, it provided an idea about tissue quality, thickness, spatial relationship, and orientation in relation to surrounding structures. Successful resection and replacement of the diseased segment of the aorta were achieved on cardiopulmonary bypass support. Post-operative recovery was uneventful, and at 6-month follow-up, the patient is doing well. In this report, various aspects of such lesions have been discussed, including clinical presentations, complications, planning and conduct of a safe cardiopulmonary bypass, and precautions during surgery for a successful outcome. CONCLUSION: Complicated obstructive aortic lesions in children require careful assessment, appropriate advanced imaging, and the use of 3-D printing technology in order to plan and perform safe and effective surgical management. The etiology of severe calcified aorta in children may be related to metabolic factors, previous surgery, use of a homograft, or an inflammatory process. However, it has yet to be proven.

Multicenter Study of Long-Term Outcomes and Quality of Life in PHACE Syndrome after Age 10.

OBJECTIVE: To characterize long-term outcomes of PHACE syndrome. STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains. RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma (IH) residua in 94.1%. Approximately one-half had received laser treatment for residual IH, and the majority (89.5%) of participants were satisfied or very satisfied with the appearance. Neurocognitive manifestations were common including headaches/migraines (72.1%), participant-reported learning differences (45.1%), and need for individualized education plans (39.4%). Cerebrovascular arteriopathy was present in 91.3%, with progression identified in 20/68 (29.4%) of those with available follow-up imaging reports. Among these, 6/68 (8.8%) developed moyamoya vasculopathy or progressive stenoocclusion, leading to isolated circulation at or above the level of the circle of Willis. Despite the prevalence of cerebrovascular arteriopathy, the proportion of those with ischemic stroke was low (2/104; 1.9%). PROMIS global health scores were lower than population norms by at least 1 SD. CONCLUSIONS: PHACE syndrome is associated with long-term, mild to severe morbidities including IH residua, headaches, learning differences, and progressive arteriopathy. Primary and specialty follow-up care is critical for PHACE patients into adulthood.

Impact of left ventricular hemodynamic forces in adult patients with treated aortic coarctation and preserved left ventricular systolic function.

BACKGROUND: The LV myocardial strain and hemodynamic forces (HDFs) are innovative markers of LV function. Aortic coarctation is safely repaired in infancy; however, mortality and morbidity remain increased in later life. The study investigated the role of left ventricular myocardial deformation and HDFs in asymptomatic patients who underwent successful aortic coarctation repair. METHODS: Clinical and echocardiographic data were analyzed from 42 repaired CoA, 32 ± 20 years after surgery, 2D echocardiographic global longitudinal strain (GLS), circumferential strain (GCS) and HDFs were determined. CoA patients were compared with 42 patients affected by blood hypertension and 84 healthy controls; all matched for age and gender. RESULTS: All groups had normal LV ejection fraction (LVEF), dimensions, and volumes. CoA patients showed a significantly higher rate of LV mass indexed (p < .001) and left atrial volumes indexed (p < .001). LV myocardial and endocardial global longitudinal and circumferential strain were decreased in CoA patients (p < .001, p < .001; p = .032 and p < .001, respectively). HDF parameters such as LV longitudinal force, LV systolic longitudinal force and LV impulse (LVim) were uniformly reduced (p = .006, p = .001, and p = .001, respectively). LV myocardial strain and HDF parameter values were independently associated with hospitalization for heart failure on univariable Cox regression analysis. CONCLUSION: Despite preserved LVEF, patients with CoA had lower LV myocardial strain and HDF parameters values, independently associated with hospitalization for heart failure.

Non-vascular intracranial lesions in three children with PHACE association.

PHACE (posterior fossa malformations, hemangiomas, arterial anomalies, cardiac anomalies, eye anomalies) association has many recognized clinical features. A link between PHACE and non-vascular intracranial lesions has not been well-described. We report three pediatric patients with PHACE and non-vascular intracranial lesions.

Enzima convertidora de angiotensina homóloga (ECA2) y actividad de ROCK en la falla cardíaca experimental / ACE 2 and ROCK activity in experimental congestive heart failure

Antecedentes: La ECA2 ha mostrado ser un regulador esencial de la funcionalidad cardíaca. En un modelo experimental de insuficiencia cardíaca (IC) con Fier, modelo de coartación de aorta (COA), se encontró activación de la vía Rho-kinasa. La inhibición de esta vía con fasudil no mejoró el remodelado cardíaco ni la disfunción sistólica. Se desconoce en este modelo, si el deterioro de la función cardíaca y activación de la vía rho-kinasa se asocia con una disminución de la ECA2 cardíaca y si la inhibición de Rho-kinasa tiene un efecto sobre la expresión de ECA2. Objetivo: Nuestro objetivo es determinar si en la falla cardaca experimental por coartación aórtica, los niveles proteicos de ECA2 en el miocardio se asocian a disfunción sistólica y cual es su interacción con la actividad de ROCK en el miocardio. Métodos: Ratones C57BL6J machos de 7-8 semanas se randomizaron en 3 grupos experimentales. Grupo COA por anudación de la aorta + vehículo; Grupo COA + Fasudil (100 mg/Kg día) por bomba osmótica desde la semana 5 post-cirugía; y grupo control o Sham. Se determinaron las dimensiones y función cardíaca por ecocardiografía. Posterior a la eutanasia, se determinaron los niveles de ECA2 del VI por Western-blot y actividad de la Rho-kinasa Resultados: En los grupos COA+vehículo y COA-FAS hubo deterioro de la función cardíaca, reflejada por la reducción de la FE (47,9 ± 1,53 y 45,5 ± 2,10, p < 0,05, respectivamente) versus SHAM (68,6 ± 1,19). Además, aumentaron las dimensiones cardíacas y hubo desarrollo de hipertrofia (0,53 ± 0,02 / 0,53 ± 0,01, p < 0,05) medida por aumento de la masa cardíaca relativa respecto del grupo SHAM (0,40 ± 0,01). En los grupos COA+vehículo y COA-FAS se encontró una disminución significativa del 35% en la expresión de ECA2 cardíaca respecto al grupo control. Conclusiones: La disfunción sistólica por coartación aórtica se asocia con aumento de la actividad de Rho-kinasa y significativa disminución de la expresión de ECA2. La inhibición de Rho-kinasa no mejoró el remodelado cardíaco, la disfunción sistólica y tampoco modificó los niveles de ECA2 cardíaca.

Background: ACE2 has been described as an essential regulator of cardiac function. In an experimental model of heart failure (HF) and heart failure reduced ejection fraction (HFrEF), the aortic coarctation (COA) model, activation of the Rho-kinase pathway of cardiac remodeling was found. Inhibition of this pathway did not improve cardiac remodeling or systolic ventricular dysfunction. It is unknown in this model whether the impairment of cardiac function and activation of the rho-kinase pathway is associated with a decrease in ACE2 and whether rho-kinase inhibition has an effect on ACE2 expression. Objective: To determine if in experimental heart failure due to aortic coarctation, ACE2 protein levels in the myocardium are associated with systolic dysfunction and what is its interaction with ROCK activity in the myocardium. Methods: Male C57BL6J mice aged 7-8 weeks were divided into 3 groups and anesthetized: One group underwent COA+ vehicle; A second group COA + Fasudil (100 mg/Kg/d) by osmotic pump from week 5 post-surgery and; the third group, control(SHAM). Echocardiograms were performed to determine cardiac dimensions and systolic function. Rats were then euthanized. Ventricular expression of ACE2, activity of the Rho-kinase pathway by MYPT-1 phosphorylation, relative cardiac mass, area and perimeter of cardiomyocytes were determined by Western blot. Results: In both COA+vehicle and COA+FAS groups there was deterioration of cardiac function, reflected in the reduction of EF (47.9 ± 1.53 and 45.5 ± 2.10, p < 0.05, respectively) versus the SHAM group (68.6 ± 1.19). In addition, cardiac dimensions and hypertrophy increased (0.53 ± 0.02 / 0.53 ± 0.01, p < 0.05) due to increased relative cardiac mass compared to the SHAM group (0.40 ± 0.01). In the COA+vehicle and COA+FAS groups a significant decrease of 35% in cardiac ACE2 expression was found compared to the control group. Conclusions: Systolic dysfunction due to aortic coarctation is associated with increased Rhokinase activity and a significant decrease in ACE2 expression. Rho-kinase inhibition did not improve cardiac remodeling, systolic dysfunction, nor did it change cardiac ACE2 levels.

Long-term follow-up after endovascular treatment of aortic coarctation with bare and covered Cheatham platinum stents.

BACKGROUND: Endovascular treatment of aortic coarctation (CoA) in children and adults frequently requires stent implantation. The aim of this study was to analyze long-term results after CoA treatment with bare and covered Cheatham-PlatinumTM (CP) stents in our institution and to derive recommendations for the differential use of these stent types. METHODS: In this retrospective single institution study, 212 patients received endovascular CoA treatment with bare (n = 71) and covered (n = 141) CP stents between September 1999 and July 2021, respectively. The indications for treatment were native CoA in 110/212 patients (51.9%) and re-coarctation after primary surgical or interventional treatment in 102/212 patients (48.1%). Median patient age at endovascular CoA treatment was 18.8 years [IQR 11.9; 35.8]. Long-term follow-up was available in 158/212 patients (74.5%) with a median follow-up of 7.3 years [IQR 4.3; 12.6]. RESULTS: Procedural success was achieved in 187/212 (88.2%) patients. Survival rate was 98.1% after 5, and 95.6% after 10 and 15 years, respectively. The probability of freedom from re-intervention was 93.0% after 5, 82.3% after 10 and 77.8% after 15 years, respectively. Freedom from re-interventions (44/158, 27.8%) did not differ between patients who received bare or covered CP stents (p = 0.715). Multivariable risk factor analysis identified previous CoA surgery (HR: 2.0, 95% confidence interval (CI): 1.1-3,9, p = 0.029), postdilatation (HR: 2,9, 95% CI: 1.1-6.3, p = 0.028) and age at intervention (HR: 0.96, 95% CI: 0.94-0.99, p = 0.002) as independent risk factors for re-intervention. Peri-procedural complications occurred in 15/212 (7.1%) patients (dissection/thrombosis of vascular access vessel: n = 9; bleeding: n = 1; stent dislocation: n = 2; aortic dissection/aortic wall rupture: n = 3). Long-term complications were observed in 36 patients and included stent fracture (n = 19), aneurysm formation (n = 14), endoleak (n = 1) and subclavian artery stenosis (n = 2). Peri-procedural and long-term complications did not differ between patients who received CoA treatment with bare or covered CP stents (all p > 0.05). CONCLUSION: Endovascular treatment of CoA using bare or covered CP stents can be performed safely and effectively with excellent long-term results. Survival, re-intervention and complication rate did not significantly differ between both stent types. However, individual stent selection is advisable with regard to CoA morphology and severity as well as patient age.

Ascending Aortic Coarctation - an Atypical Location in a Non-Takayasu Arteritis Female Patient.

Coarctation of the aorta is a well-known congenital cardiovascular disorder that typically occurs within proximity to the ductus arteriosus. The ascending aorta, distal descending aorta, and abdominal aorta are segments which are prone to development of an atypical coarctation. The etiologies of atypical cases are usually associated with various types of vasculitis syndromes or underlying genetic disorders. In this report, we present a 24-year-old female patient with an ascending aortic coarctation which developed secondary to an atherosclerotic process.

Open after endovascular repair for previous extra anatomic bypass of adult coarctation.

BACKGROUND: During follow-up, aneurysm formation in adults with coarctation of aorta has been reported after undergoing extra-anatomical aortic bypass grafting. Endovascular repair was a reasonable treatment option but there were still complications. CASE PRESENTATION: A 48-year-old male who underwent extra-anatomical aortic bypass grafting, presented with severe back pain and hemoptysis. He had a diagnosed pseudoaneurysm with concealed rupture at the bypass grafting. He underwent endovascular repair and coil embolization. A postsurgical CT-angiogram showed there was extravasation from stent into the pseudoaneurysm. An open repair with endovascular stent removal instead of restenting was performed.

Outcomes of surgery for coarctation of the aorta based on a new classification system.

OBJECTIVES: To evaluate early- and long-term outcomes of the surgical treatment for coarctation of the aorta based on a new classification system. METHODS: A retrospective clinical review of 111 patients with coarctation of the aorta who underwent surgery (March 2011 to August 2020) was performed. We categorised coarctation of the aorta into type I, with all three head vessels tightly packed; type II, with the left subclavian artery separated from the two other head vessels; and type III, with all three head vessels separated from one another. Each type included subtype a, with a short isthmic portion, and subtype b, with a long isthmic portion. RESULTS: The median patient age and weight at operation were 8 (range, 1-1490) days and 3.2 (range, 1.9-18.5) kg, respectively. Extended end-to-end anastomosis was performed via sternotomy in 54, via thoracotomy in 12, end-to-side anastomosis in 31, autologous main pulmonary artery patch augmentation in 12, and modified end-to-end anastomosis combined with subclavian artery flap aortoplasty in two patients. There was one (0.9%) case of early mortality and 12 (10.8%) cases of post-operative complications. Two (1.8%) late deaths occurred during follow-up. Five (4.5%) patients underwent balloon dilatation and three (2.7%) underwent reoperation for restenosis of coarctation of the aorta. All patients with type Ia (21 patients, 18.9%) underwent extended end-to-end anastomosis via sternotomy or thoracotomy. CONCLUSIONS: According to the early and late outcomes observed in this study, surgical treatment of coarctation of the aorta using the new classification system could be safe and low risk.

Long-term follow-up of patients with extensive segmental infantile hemangioma of the cervical or facial region: A French single-center prospective study.

BACKGROUND: Infantile hemangiomas (IHs) can be part of PHACE (posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies, eye anomalies) syndrome when they are segmental, extensive, and located on the face or neck. The initial assessment is codified and well known, but there are no recommendations for the follow-up of these patients. The aim of this study was to assess the long-term prevalence of different associated abnormalities. METHODS: Patients with a history of large segmental IHs of the face or neck. diagnosed between 2011 and 2016 were included in the study. Each patient underwent an ophthalmological, dental, ENT (ear, nose, and throat), dermatological, neuro-pediatric, and radiological assessment at inclusion. Eight patients including five with PHACE syndrome were prospectively evaluated. RESULTS: After a mean follow-up of 8.5 years, three patients presented with an angiomatous aspect of the oral mucosa, two with hearing loss, and two with otoscopic abnormalities. No patients developed ophthalmological abnormalities. The neurological examination was altered in three cases. Brain magnetic resonance imaging follow-up was unchanged in three out four patients and revealed atrophy of the cerebellar vermis in 1 patient. Neurodevelopmental disorders were found in five of the patients and learning difficulties were observed in five patients. The S1 location appears to be associated with a higher risk of neurodevelopmental disorders and cerebellar malformations, while the S3 location was associated with more progressive complications, including neurovascular, cardiovascular, and ENT abnormalities. CONCLUSION: Our study reported late complications in patients with a large segmental IH of the face or neck, whether associated with PHACE syndrome or not, and we proposed an algorithm to optimize the long-term follow-up.

[Outcome of surgical repair for aortic coarctation with coexisting descending aortic aneurysm in adult patients].

Objective: To evaluate the efficacy of surgical treatment of aortic coarctation combined with descending aortic aneurysm in adult patients. Methods: This is a retrospective cohort study. Adult patients with aortic coarctation who were hospitalized in Beijing Anzhen Hospital from January 2015 to April 2019 were enrolled. The aortic coarctation was diagnosed by aortic CT angiography, and the included patients were divided into the combined descending aortic aneurysm group and the uncomplicated descending aortic aneurysm group based on descending aortic diameter. General clinical data and surgery-related data were collected from the included patients, and death and complications were recorded at 30 days after surgery, and upper limb systolic blood pressure was measured in all patients at discharge. Patients were followed up after discharge by outpatient visit or telephone call for their survival and the occurrence of repeat interventions and adverse events, which included death, cerebrovascular events, transient ischemic attack, myocardial infarction, hypertension, postoperative restenosis, and other cardiovascular-related interventions. Results: A total of 107 patients with aortic coarctation aged (34.1±15.2) years were included, and 68 (63.6%) were males. There were 16 cases in the combined descending aortic aneurysm group and 91 cases in the uncomplicated descending aortic aneurysm group. In the combined descending aortic aneurysm group, 6 cases (6/16) underwent artificial vessel bypass, 4 cases (4/16) underwent thoracic aortic artificial vessel replacement, 4 cases (4/16) underwent aortic arch replacement+elephant trunk procedure, and 2 cases (2/16) underwent thoracic endovascular aneurysm repair. There was no statistically significant difference between the two groups in the choice of surgical approach (all P>0.05). In the combined descending aortic aneurysm group at 30 days after surgery, one case underwent re-thoracotomy surgery, one case developed incomplete paraplegia of the lower extremity, and one case died; and the differences in the incidence of endpoint events at 30 days after surgery were similar between the two groups (P>0.05). Systolic blood pressure in the upper extremity at discharge was significantly lower in both groups compared with the preoperative period (in the combined descending aortic aneurysm group: (127.3±16.3) mmHg vs. (140.9±16.3) mmHg, P=0.030, 1 mmHg=0.133 kPa; in the uncomplicated descending aortic aneurysm group: (120.7±13.2) mmHg vs. (151.8±26.3) mmHg, P=0.001). The follow-up time was 3.5 (3.1, 4.4) years. There were no new deaths in the combined descending aortic aneurysm group, no transient ischemic attack, myocardial infarction or re-thoracotomy surgery, and one patient (1/15) suffered cerebral infarction and 10 patients (10/15) were diagnosed with hypertension. The differences in the occurrence of endpoint events during postoperative follow-up were similar between the two groups (P>0.05). Conclusion: In experienced centers, long-term prognosis of patients with aortic coarctation combined with descending aortic aneurysm is satisfactory post surgical intervention.

Surgical repair of interrupted right-sided cervical aortic arch with hypoplasia of the descending thoracic aorta in a child with PHACE syndrome.

Obstruction of a right cervical aortic arch in association with hypoplasia of the descending aorta is a rare congenital cardiac malformation. We report the case of a 6-month-old boy with posterior fossa anomalies, hemangioma, arterial anomalies, cardiac anomalies and eye anomalies (PHACE) syndrome and interruption of a right-sided cervical aortic arch. The descending thoracic aorta in the child had a long hypoplastic segment and the patient also had small ventricular septal defect and pulmonary valve stenosis. The surgical technique of reconstruction of the aortic arch and the descending thoracic aorta through a median sternotomy is described.

Associated factors for prenatally diagnosed fetal congenital heart diseases.

OBJECTIVE: Current studies have suggested that fetal congenital heart diseases (CHDs) are caused by various factors. However, few data in this field is available in China. This study aimed to detect associated factors of prenatally diagnosed fetal CHD in a large sample in China. STUDY DESIGN: Pregnant women who underwent fetal echocardiography were recruited in our hospital between May 2018 and September 2019. The maternal sociodemographic and lifestyle characteristics and some fetal factors were obtained. We used forward stepwise logistic regression analysis to assess risk of fetal CHD associated with various factors. RESULTS: A total of 5024 subjects were enrolled, of whom 875 had CHD fetuses. Among the fetal CHD group (N = 875), critical CHDs account for 27%, of which Tetralogy of Fallot is the most (7.1%), followed by coarctation of aorta (4.0%), double-outlet right ventricle (2.9%). The forward stepwise logistic regression models revealed that history of spontaneous abortion (OR = 1.59, 95% CI 1.33-1.91, P = 0.000), upper respiratory tract infection during early pregnancy (OR = 1.30, 95% CI 1.04-1.62, P = 0.020), mental stress during early pregnancy (OR = 2.37, 95% CI 1.15-4.91, P = 0.020), single umbilical artery (OR = 2.30, 95% CI 1.18-4.51, P = 0.015), and paternal smoking (OR = 1.21, 95% CI 1.02-1.44, P = 0.027) are positively associated with an increased risk of fetal CHD. CONCLUSION: We identified several factors positively associated with fetal CHD. These findings suggest that it is important to strengthen healthcare and prenatal counseling for women with these factors.

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.

Characterizing the anatomic spectrum, surgical treatment, and long-term clinical outcomes for patients with Shone's syndrome.

OBJECTIVE: Shone's syndrome (SS) has a varied anatomic spectrum without consensus on need and timing for mitral valve intervention (MVI). We sought to (1) characterize the anatomic spectrum and treatment pathways; (2) describe long-term outcomes and their determinants; and (3) define the impact of MVI timing on survival. METHODS: In total, 121 patients with SS who underwent operation at Cleveland Clinic between 1956 and 2021 were reviewed. Multivariable parametric hazard analyses including time-varying covariables, and modulated renewal to account for repeated events, were performed. End points included time-related survival and reintervention. RESULTS: Median follow-up was 9.9 years. Mitral stenosis (MS) (98%), coarctation (80%), and aortic stenosis (70%) predominated. The most common combination was MS + aortic stenosis + coarctation (26%). Median initial mean mitral and aortic gradients were 3.6 (15th/85th percentiles: 2.0/6.8) and 9.0 (2.1/46) mm Hg, respectively. Median initial surgery age was 0.041 (0.011/3.2) years. Initial surgeries included coarctation repair (43%), arch repair (18%), and staged biventricular repair (18%). Overall survival was 92% at 20 years. Freedom from reoperation was 66% and 24% at 1 and 20 years. Patients with no MVI or initial MVI (N = 7) tended to be associated with better early survival compared with those with MVI at subsequent operation (N = 29) (P = .06). Risk factors for early reintervention included initial Norwood operation, with younger age and arch hypoplasia increasing later reintervention. CONCLUSIONS: Despite excellent long-term survival, reoperation in SS is frequent and occurs most commonly on left ventricular outflow tract and mitral valve. Although MS is present in most, few require MVI. Delaying MVI may compromise early survival.

Isolated coarctation repair through a left thoracotomy in children.

INTRODUCTION: Isolated aortic coarctation performed through a left thoracotomy resection and end-to-end anastomosis results in low mortality and morbidity rates. Recoarctation and late hypertension are among the most important complications after such repairs. In this study, we reviewed the results of children who underwent left-side thoracotomy to correct an isolated aortic coarctation. METHOD: A consecutive sample of 90 patients who underwent resection and extended end-to-end anastomosis through a left-side thoracotomy in our centre between 2011 and 2021 was retrospectively analysed. The patients' preoperative characteristics, operative data, and post-operative early and long-term results were examined. RESULTS: All patients underwent resection and extended end-to-end anastomosis. A pulmonary artery band was applied simultaneously to three (3.3%) patients, and an aberrant right subclavian artery division was applied to one (1.1%) patient. The mean cross-clamp time was 29.13 ± 6.97 minutes. Two (2.2%) patients required reoperation in the early period. Mortality was observed in one (1.1%) patient in the early period. Eight (8.8%) patients developed recoarctation, of whom four (4.4%) underwent reoperation and four (4.4%) underwent balloon angioplasty. Twenty-two (26.8%) patients received follow-up antihypertensive treatment. The mean follow-up period was 41.3 ± 22.8 months. No mortality was observed in the late period. CONCLUSION: Isolated coarctation is successfully treated with left-side thoracotomy resection and an extended end-to-end anastomosis technique with low mortality, morbidity, and low long-term recoarctation rates. Long-term follow-up is required due to the risks of early and late post-operative recoarctation, which requires reintervention.

Surgical Experience With Crossed and Anomalous Origin of the Pulmonary Arteries From the Pulmonary Trunk: A Single Center Report of 24 Cases.

BACKGROUND: Anomalies of the pulmonary origin of the pulmonary arteries are uncommon; however, the true incidence is unknown and may be underestimated. We sought to review our experience with this unusual pathology and examine its surgical implications. METHODS: We reviewed medical records between 2011 and 2022. RESULTS: A total of 24 patients were identified. Genetic syndromes were present in 12 patients (50%). The patients were divided into two main groups. Those with septal defects (14 patients,58.3%), and those without (10 patients, 41.7%). Aortic arch hypoplasia with/without coarctation was present in nine patients (37.5%). Pulmonary arterial branch hypoplasia and/or obstruction was present in six patients (25%) with resultant preoperative systemic or suprasystemic right ventricular pressure. Four patients (16.7%) underwent pulmonary artery branch and/or right ventricular outflow tract interventions prior to surgery. All patients underwent surgical interventions for their associated cardiac defects. The crossed pulmonary arteries were uncrossed for those four patients (16.7%) who required concomitant pulmonary arterioplasties and pulmonary arterial branch rehabilitation and who had elevated right ventricular pressures preoperatively. No early or late mortalities. One Alagille's syndrome underwent liver transplant prior to discharge. Late transcatheter interventions were needed in four (16.7%) during the follow-up period, while four patients required repeat aortic arch augmentation for recurrent arch obstruction. CONCLUSIONS: Anomalous origin of the pulmonary arteries from the pulmonary trunk including crossed pulmonary arteries is an uncommon anomaly that may be underrecognized. It can occur in isolation or in association with other heart defects. Recognition of this malpositional anomaly is important as it has specific surgical and/or transcatheter implications.

Interrupted Aortic Arch Associated With Aortopulmonary Window: The Role of Multidetector Computed Tomography Angiography.

We report a case of a 2-day-old male with a diagnosis of interrupted aortic arch combined with aortopulmonary window suspected through echocardiography and confirmed by multidetector computer tomography (MDCT) angiography. Our case highlights how MDCT angiography was a key factor in planning surgical approach as it not only accurately defined aortic arch anatomy but also aortopulmonary window morphology.