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.

An Undiagnosed Shone Complex in a 52-Year-Old Female: A Case Report.

Shone complex (SC) is a rare congenital heart disease characterized by four obstructive anomalies, including parachute mitral valve (PMV), left atrial supra-valvular ring, subaortic stenosis, and coarctation of the aorta. Typically, SC manifests early in life. However, we encountered a 52-year-old female with a history of hypertension diagnosed at 26 years and left-sided weakness poststroke. She presented with worsening dyspnea and palpitations, prompting a thorough investigation. Echocardiography revealed a heavily calcified bicuspid aortic valve with severe aortic stenosis and parachute mitral valve with severe mitral stenosis and preserved ejection fraction, raising suspicions regarding the presence of SC. Cardiac catheterization, aortic-angiography, and noncontrast chest computed tomography (CT) revealed abrupt occlusion of the postductal aorta, giving a picture of aortic coarctation with well-established collateral vessels including prominent right and left internal mammary arteries. So, she was diagnosed with an incomplete SC at the age of 52. Shone complex is a rare congenital heart disease that typically presents in early childhood, but late presentations due to misdiagnosis or incomplete work up are possible. This case emphasizes the rarity of late presentations of SC and highlights the importance of early diagnosis and intervention to improve outcomes. An incomplete SC should be considered in adult patients presenting with left-sided obstructive lesions.

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.

Very long-term follow-up after aortic stenting for coarctation of the aorta.

INTRODUCTION AND OBJECTIVES: Stent implantation is the preferred treatment in older children and adults with aortic coarctation (CoA). We aimed to determine the incidence of very late events after CoA stenting. METHODS: We analyzed a cohort of CoA patients who underwent stent implantation at our center between 1993 and 2018. Patients were periodically followed up in outpatient clinics, including computed tomography (CT) and fluoroscopy assessment. RESULTS: A total of 167 patients with CT and fluoroscopy data were included: 83 (49.7%) were aged ≤ 12 years and 46 (28%) were female. The mean clinical follow-up time was 17±8 (range 4-30) years and the mean time to CT/fluoroscopy was 11±7 years. Aortic aneurysm was present in 13% and was associated with the PALMAZ stent (OR, 3.09; 95%CI, 1.11-9.49; P=.036) and the stented length (OR, 0.94; 95%CI, 0.89-0.99; P=.039). Stent fracture was frequent (34%), but was not related to the presence of aneurysm. Stent fracture was associated with young age (OR, 3.57; 95%CI, 1.54-8.33; P=.003), male sex (OR, 4.00; 95%CI, 1.51-12.5, P=.008) and inversely with the PALMAZ stent (OR, 0.29; 95%CI, 0.12-0.67, P=.005). Reintervention was lower in adults (10%), mainly related to aneurysms. Those treated when aged ≤ 12 years had higher reintervention rates (43%) due to recoarctation somatic growth. CONCLUSIONS: This long-term follow-up study of CoA patients treated with stenting revealed a significant incidence of late events. Reintervention rates were higher in patients treated at younger ages. Periodic imaging surveillance appears to be advisable.

Incidence of congenital heart disease in fetuses diagnosed with single isolated umbilical artery. Systematic review and meta-analysis.

OBJECTIVE: To estimate the proportion of heart disease in fetuses with a prenatal diagnosis of a single isolated umbilical artery. METHODS: We performed a search strategy in MEDLINE (OVID), EMBASE, and the Cochrane Central Register of Controlled Trials (CENTRAL) from inception to the present. We assessed the risk of bias and performed a meta-analysis. We completed the subgroup analysis according to the region. RESULTS: We found 1384 studies by the search strategy. After carefully reviewing the full-text, 15 studies were included. A total of 2008 fetuses with a single isolated umbilical artery were included, and 177 had cardiac malformations. There was an overall incidence of 9% 95%CI (0.05-0.14) I2 90%. The incidence by country of origin was between 5% and 19%. The most common heart disease reported was a ventricular septal defect. Seven studies were found describing 25 cases. We described other malformations, such as tetralogy of Fallot, coarctation of the aorta, and hypoplastic left ventricle, among others. CONCLUSION: The incidence of congenital heart disease in fetuses with a single isolated umbilical artery was high. In addition, half of these correspond to significant heart disease. Based on the above, we suggest that fetuses with a single isolated umbilical artery should have a complete anatomic evaluation emphasizing cardiac evaluation.

Infectious endarteritis in aortic coarctation: two spectra of an infrequent disease.

OBJECTIVE: To describe two different degrees of clinical commitment and results in the evolution of infectious endarteritis in patients without a previous diagnosis of aortic coarctation. CASE DESCRIPTION: Two male patients aged 13 and 9 years old were admitted. The first due to a fever for 2 months, which started after dental cleaning, and the second due to high blood pressure, both patients with asthenia and weight loss. In the first case, the transthoracic echocardiogram showed aortic coarctation, and the transesophageal echocardiogram showed the presence of vegetations in the post-coarctation area, without pseudoaneurysms, with blood culture positive for Streptococcus mitis. This patient was treated for six weeks with crystalline penicillin, resolving the infection without complications. The second case was assessed for high blood pressure with a history of fever, and was treated with antibiotics. When performing a transthoracic echocardiogram, aortic coarctation was observed with a saccular image classified as a pseudoaneurysm by angiography and tomography. Blood culture was negative, and the patient developed an episode of hematemesis whose initial etiology could not be determined. Before surgical repair, he had a second episode of copious hematemesis with hypovolemic shock and death. COMMENTS: We need to have a high index of clinical suspicion to establish the diagnosis of aortic coarctation complicated by endarteritis and start the appropriate antibiotic treatment, always maintaining surveillance for the early detection of pseudoaneurysms.

Aortic isthmus massive calcifications: an unusual case of secondary hypertension.

We present the case of a 63-year-old woman who was hospitalized five times in 4 months for episodes of heart failure, associated with a sustained hypertension despite a fivefold therapy. The pathophysiological mechanism of the hypertension was a secondary hyperaldosteronism linked to a renal hypoperfusion due to the narrowing of the thoracic aorta by a huge calcified plaque, mimicking an aortic coarctation.

Aortic luminal remodeling after intravascular stent therapy for coarctation of the aorta: intermediate results.

OBJECTIVE: Outcomes after adult coarctation of the aorta (CoA) stenting is scant. We explored predictors of aortic remodeling after stent implantation and report early- and intermediate-term clinical outcomes. METHODS: Adult patients who underwent stenting between July 2003 and December 2017 were included in this single-center retrospective study. We created a novel index of aortic volumetric and diameter changes using computed tomography (CT)/magnetic resonance (MR) images measured through TeraRecon and AngioQ. Predictors of aortic remodeling were explored using univariable linear regression analysis. RESULTS: One hundred and thirty-four patients (mean age 35.2 years, 58.2% men) underwent CoA stenting. Paired aortic diameter measurements were available in 20 patients, and 40 paired patients in volumetric measurements. There was significant reduction in aortic diameter immediately proximal to the left carotid and subclavian arteries, and the aorta distal to the stenosis (P less than .05) at follow-up. There was a significant volumetric reduction in the ascending aorta, aortic arch, and the aortic segment most proximal to the top of the stent (P less than .05). Univariate predictors of aortic remodeling included sex, age, presence of previous surgical repair, aortic valve morphology, and the number of antihypertensive medications. Mean follow-up time was 4.0 ± 3.8 years, where 5% of patients underwent reintervention due to complications, 3% developed aneurysms, and 3% had stent fractures. CONCLUSIONS: This study is the first to examine the anatomical changes that occur in the aorta post stent repair through analysis of serial imaging. Patients with stent-repaired coarctation demonstrated negative remodeling in multiple areas of the aorta with regards to the aortic diameter and volumetric measurements.

Acute iatrogenic aortic coarctation after balloon-expandable prosthesis pop-out during transcatheter aortic valve implantation intervention.

An 80-year-old man was referred to our cath-lab for transcatheter aortic valve implantation (TAVI) due to symptomatic severe aortic valve stenosis. The intervention utilized a balloon-expandable prosthesis (Edwards Sapien 3 Ultra n°26, Edwards Lifesciences).

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.

PHACES-like syndrome with TMEM260 compound heterozygous variants.

PHACES syndrome is a multiple congenital disorder with unknown etiology that is characterized by Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/coarctation of the aorta, Eye anomalies, and Sternal cleft. Compound heterozygous or homozygous TMEM260 variants cause structural heart defects and renal anomalies syndrome (SHDRA). We describe a 10-year-old male patient with a PHACES-like syndrome and TMEM260 compound heterozygous variants who demonstrated overlapping phenotypes between the two syndromes. He presented with truncus arteriosus, supraumbilical raphe, ophthalmological abnormality, vertebral abnormality, borderline intellectual disability, and hearing loss. He had normal serum creatinine. In proband exome sequencing, compound heterozygous TMEM260 variants (NM_017799.4 c.1617delG p.(Trp539Cysfs*9)/c.1858C > T p.(Gln620*)) were identified. Twelve patients have been reported with TMEM260-related SHDRA: 10 had truncus arteriosus and 6 had renal failure. One previously reported patient had facial port wine nevus and another patient had supraumbilical raphe, which are the cardinal signs for PHACES syndrome. TMEM260-related SHDRA could share overlapping clinical features with PHACES syndrome. This report expands the phenotypic spectrum of a TMEM260-related disorder.

Pseudocoarctation of the Arch and the Abdominal Aorta: A Review.

Pseudocoarctaion of the aorta is a rare congenital anomaly occurring in isolation or with other congenital heart diseases. The anatomical basis of the condition is linked to an elongated, redundant aorta which may affect the arch, or the abdominal aorta rarely giving rise to kink and buckling without causing any significant functional stenosis. It should be carefully differentiated from the common true coarctation of the aorta. No clinical features are specific to pseudo coarctation and are often diagnosed incidentally. Although asymptomatic in the majority, few patients can have nonspecific symptoms and complications due to aneurysm formation, dissection, or rupture of the aorta. Hence Pseudocoarctaion should be closely followed for the onset of symptoms or possible complications. Without recommendations, no specific therapy is indicated in asymptomatic patients, although symptoms and complications warrant definitive treatment. As the natural history of the disease is unknown, the condition, when diagnosed, should be closely followed up for the occurrence of any complications. This article reports a pseudo aortic coarctation involving the arch and a brief literature review of this rare congenital anomaly.

How acute renal failure led to the diagnosis of aortic coarctation.

The present case report focuses on a rare presentation of aortic coarctation. A 38-year-old man with well-controlled arterial hypertension, minimal change glomerulonephritis and colitis ulcerosa was suffering from recurrent acute renal failure episodes during viral gastroenteritis. No other symptoms at rest or during physical activity were present. The workup included renal duplex sonography, which unmasked tardus parvus profile in both kidneys without any acceleration of blood flow in the renal arteries. Further examination included CT angiography, which confirmed the diagnosis of aortic coarctation. The observed narrowing of the aorta measured 4 mm and was treated with percutaneous transluminal angioplasty and stent implantation (final diameter 12 mm). After the procedure, the patient had normal blood pressure values without the need of any medication; duplex sonography showed improved renal perfusion. The present case confirms the importance of evaluation for secondary hypertension and thorough workup of acute renal failure in young patients.

Cardiovascular considerations in management of patients with Turner syndrome.

Turner syndrome (TS) is a chromosomal disorder that affects 25-50 per 100,000 live born females. Patients with TS face a heavy burden of cardiovascular disease (congenital and acquired) with an increased risk of mortality and morbidity compared to the general population. Cardiovascular diseases are a major cause of death in females with TS. Approximately 50% of TS patients have a congenital heart abnormality, with a high incidence of bicuspid aortic valve, coarctation of the aorta and generalised arteriopathy. Frequently, females with TS have systemic hypertension, which is also a risk factor for progressive cardiac dysfunction and aortopathy. This paper aims to provide an overview of the cardiovascular assessment, management and follow up strategies in this high-risk population.

Short-term results of serial cardiopulmonary exercise testing in adults with repaired coarctation of the aorta.

BACKGROUND: Data on the evolution of exercise capacity in adults with repaired coarctation of the aorta (CoA) are scarce. We aimed to investigate the evolution and change of measures of exercise capacity obtained by cardiopulmonary exercise testing (CPET) in adults with repaired CoA. METHODS: Patients 16 years of age and older with CoA, who performed at least two maximal CPETs in our institution, were included in the study. The first and last available tests were used for comparative statistical analysis of common exercise variables. RESULTS: Sixty patients (43 men) performed serial maximal CPET. Mean age at first assessment was 30 ± 10 years (range 17-68). Mean time between first and last assessment was 3.5 years (range 1-7). Mean peak VO2 was 85.6 ± 20.4% of the predicted value at the initial test, and 87.0 ± 20.5% at the final test (p = 0.294). There were no significant differences in the mean values of oxygen pulse, VO2 at anaerobic threshold, systolic and diastolic blood pressures and peak heart rate between the two assessments. There was a slightly higher VE/VCO2 slope at the final test (p = 0.047). Higher age and Borg scale were found to be related with a decline in percent-predicted peak VO2 from initial to final assessment. CONCLUSION: In adults with repaired CoA, we found no significant change in peak VO2 during a mean follow-up of 3.5 years, yet a small increase in VE/VCO2 slope was observed. Higher age was predictive for a decline in percent-predicted peak VO2, starting in the third decade of life.

Sirolimus for diffuse intestinal infantile hemangioma with PHACE features: systematic review.

BACKGROUND: We report a 3-month-old female with cardiovascular anomalies and diffuse intestinal infantile hemangioma (IIH) of the small bowel suggesting possible diagnosis of PHACE syndrome (posterior fossa anomalies, hemangioma, arterial lesions, cardiac abnormalities/coarctation of the aorta, eye anomalies). The GI symptoms persisted under treatment with propranolol, whereas the addition of sirolimus led to regression of the IIH. METHODS: A systematic review was conducted using PubMed, EMBASE, and Ovid MEDLINE databases between 1982 and 2021. RESULTS: A total of 4933 articles were identified; 24 articles met inclusion criteria with 46 IIH cases. The most common GI presentations were unspecified GI bleed (40%) and anemia (38%). The most common treatments were corticosteroids (63%), surgical resection (32.6%), and propranolol (28%). Available outcomes were primarily bleeding arrest (84%). Nine cases (19.5%) were diagnosed with definite PHACE, 5 (11%) with possible PHACE, and 32 (69.5%) no PHACE. Our case presented with symptoms most consistent with those of possible PHACE and definite PHACE. No cases in this review underwent treatment with sirolimus. CONCLUSIONS: This is the first reported case of successful treatment of IIH with sirolimus. Our case, along with other patients who present with IIH and PHACE features, suggests consideration of IIH as a diagnostic criterion for PHACE syndrome. IMPACT: This is the first reported case in which sirolimus showed regression of an intestinal infantile hemangioma. This study serves to demonstrate the presentation, treatment, outcomes of intestinal infantile hemangioma, and correlation with PHACE. The potential correlation between intestinal infantile hemangioma and PHACE deserves more study in consideration of intestinal infantile hemangioma as a diagnostic criterion of PHACE.

Coartación de aorta en pediatría: características clínicas de niños y adolescentes asistidos en el Centro Hospitalario Pereira Rossell / Coarctation of the aorta in pediatrics: clinical characteristics of children and adolescents treated at the Pereira Rossell Hospital Center / Coarctação da aorta em pediatria: características clínicas de crianças e adolescentes atendidos no Centro Hospitalar Pereira Rossell

La coartación de aorta (CoAo) es una cardiopatía congénita caracterizada por un estrechamiento de la aorta descendente distal al origen de la arteria subclavia izquierda, lo que determina una obstrucción al flujo sanguíneo. Es imperativo realizar un diagnóstico precoz y tratamiento oportuno para evitar complicaciones y la muerte en algunos casos. Se describen las características clínicas y anatómicas, así como el tratamiento y la evolución en niños menores de 15 años asistidos en un hospital pediátrico de referencia de Uruguay.

Coarctation of the aorta (CoAo) is a congenital heart disease characterized by a narrowing of the descending aorta distal to the origin of the left subclavian artery, which determines an obstruction to blood flow. It is imperative to make an early diagnosis and timely treatment to avoid complications and death in some cases. The clinical and anatomical characteristics are described, as well as the treatment and evolution in children under 15 years of age attended in a reference pediatric hospital in Uruguay.

A coarctação da aorta (CoAo) é uma doença cardíaca congênita caracterizada por estreitamento da aorta descendente distal à origem da artéria subclávia esquerda, o que determina uma obstrução ao fluxo sanguíneo. É imperativo fazer um diagnóstico precoce e tratamento oportuno para evitar complicações e morte em alguns casos. São descritas as características clínicas e anatômicas, bem como o tratamento e a evolução em crianças menores de 15 anos atendidas em um hospital pediátrico de referência no Uruguai.

Treatment-refractory heart failure as a manifestation of aortic arch atresia.

BACKGROUND: Distal segment atresia (isthmus) is an extremely rare anatomical variant of obstructive aortic arch anomalies. CASE REPORT: We present the case of a newborn who, at 48 hours of life, presented a clinical picture of heart failure. The initial echocardiogram showed a congenital interrupted aortic arch type A, patent ductus arteriosus, and ventricular septal defect. Prostaglandins were initially indicated. Subsequently, a second echocardiogram showed the absence of ductus arteriosus; the CT angiography study confirmed this finding and revealed blood flow to the descending aorta through small intercostal blood vessels. The possibility of atresia of the distal segment (isthmus) of the aortic arch was considered and confirmed at the time of surgery. CONCLUSIONS: Aortic atresia should be considered a diagnostic possibility in the presence of type A interrupted aortic arch since the hemodynamic behavior between them is similar. Surgical medical treatment should be individualized since this condition is frequently an emergency in the neonatal period. However, this is not always the case, as other cases have been reported in schoolchildren and adults.

INTRODUCCIÓN: La atresia de segmento distal (istmo) de arco aórtico es una variante anatómica extremadamente rara de las anomalías obstructivas del arco aórtico. CASO CLÍNICO: Se presenta el caso de un recién nacido que a las 48 horas de vida presentó un cuadro clínico de insuficiencia cardiaca. El estudio de ecocardiograma inicial mostró una anomalía congénita de interrupción de arco aórtico tipo A, conducto arterioso y comunicación interventricular. De inicio se indicaron prostaglandinas. Posteriormente, el segundo ecocardiograma mostró la ausencia del conducto arterioso; el estudio de angiotomografía confirmó este hallazgo y también reveló flujo sanguíneo hacia aorta descendente a través de pequeños vasos sanguíneos intercostales. Se consideró la posibilidad de atresia del segmento distal (istmo) de arco aórtico y se confirmó al momento del acto quirúrgico. CONCLUSIONES: La atresia aórtica debe ser considerada como posibilidad diagnóstica en presencia de interrupción de arco aórtico tipo A, ya que el comportamiento hemodinámico entre ellos es similar. El tratamiento médico quirúrgico debe individualizarse, ya que es frecuente que sea una urgencia en el periodo neonatal. Sin embargo, no sucede así siempre, ya que se han reportado casos en escolares y adultos.