A significant percentage of children with hemangiomas may have PHACES syndrome which refers to the association of posterior fossa malformations, facial hemangiomas, arterial cerebrovascular abnormalities, cardiovascular
anomalies, eye abnormalities and ventral defects like sternal clefting or supraumbilical raphe. A variety of factors have led to under diagnosis of
PHACES syndrome in the past including lack of awareness and limited imaging modalities. Also, patients with PHACES syndrome with arterial cerebrovascular abnormalities can present with acute ischemic stroke. However, these patients usually present before one year of age. We describe a 29-year-old woman with no history of cerebrovascular disease who initially presented with symptoms of a stroke and was subsequently diagnosed to have PHACES syndrome exhibiting an array of multiple unusual imaging findings. We also discuss the current literature and recommendations about PHACES syndrome.
stroke, cerebrovascular, congenital, facial hemangioma, posterior fossa, moya-moya
We report an infant who presented with large facial hemangioma associated with Dandy-Walker cyst and atrial septal defect. This case is peculiar in that the large facial hemangioma in posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of aorta and other cardiac defects (PHACE) syndrome resulted in massive tissue destruction.
Facial hemangioma; infantile hemangioma; PHACE syndrome
PHACE association is a rare neurocutaneous condition in which facial hemangiomas associate with a spectrum of posterior fossa malformations, arterial cerebrovascular anomalies, cardiovascular anomalies, and eye anomalies. We reported a case of PHACE association in a premature infant showing facial, intracranial, and oropharyngeal hemangiomas with evidence of the Dandy-Walker variant and complicated cardiovascular anomalies, including a right-sided aortic arch and an atypical patent ductus arteriosus arising from a tortuous left subclavian artery. To our knowledge, intracranial hemangiomas are rare in PHACE association, and a concomitant oropharyngeal hemangioma has not been previously reported in the PHACE association literature. In infants presenting with large, plaque-like facial hemangiomas, it is important to conduct active cardiovascular and neurological evaluations. Special attention should be given to the laryngoscopic examination to search for additional hemangiomas in the airway.
PHACE association; Central nervous system cavernous hemangioma; Patent ductus arteriosus; Premature infants
PHACE(S) syndrome is an acronym for neurocutaneous disease encompassing the expression of (P) posterior cranial fossa malformations, (H) facial haemangiomas, (A) arterial anomalies, (C) aortic coarctaion and other cardiac defects, (E) eye abnormalities and (S) for sternal malformation or stenotic arterial diseases. We report on a case of PHACE syndrome complete expression with persistent fetal vascular anomalies unusually in a 55-year-old women with large bilateral facial and neck haemangioma and posterior fossa circulation insufficiency.
PHACE(S) syndrome, haemangioma, persistent fetal vascular anomalies
PHACE is a neurocutaneous syndrome associated with: Posterior fossa brain malformations, large “segmental” facial hemangiomas, arterial cerebrovascular-, cardiovascular-, and eye anomalies.
We are reporting a girl with PHACE syndrome. The patient had a congenital right-sided facial hemangioma with plaque-morphology. At age 11 years and 2 months she presented with short stature, markedly decreased growth velocity and signs and symptoms suggestive of hypothyroidism. Magnetic Resonance Imaging (MRI) of the brain revealed complex structural and cerebrovascular arterial anomalies, including an empty sella. Testing of pituitary function revealed multiple pituitary dysfunctions, including absolute growth hormone deficiency, hypogonadotropic hypogonadism, central hypothyroidism, and secondary adrenal insufficiency.
This case suggests the necessity to screen all patients with PHACE syndrome and intracranial malformations for pituitary dysfunction at regular intervals.
PHACE syndrome; Hypopituitarism; Growth hormone deficiency; Central hypothyroidism; Neurocutaneous syndrome
PHACE syndrome (OMIM #606519) is a neurocutaneous syndrome of unknown etiology and pathogenesis. We report on an individual with PHACE syndrome with a complete deletion of SLC35B4 on 7q33. In order to further analyze this region, SLC35B4 was sequenced for 33 individuals with PHACE syndrome and one parental set. Common polymorphisms with a possible haplotype but no disease causing mutation were identified. Sixteen of 33 samples of the PHACE syndrome patients were also analyzed for copy number variations using high resolution oligo-Comparative Genomic Hybridization (CGH) microarray. A second individual in this cohort had a 26.5kb deletion approximately 80kb upstream of SLC35B4 with partial deletion of the AKR1B1 on 7q33. The deletions observed on 7q33 are not likely the singular cause of PHACE syndrome; however, it is possible that this region provides a genetic susceptibility to phenotypic expression with other confounding genetic or environmental factors.
PHACE Syndrome; microarray; deletion; chromosome region 7q33; SLC35B4; AKR1B1
We present imaging findings of a patient with an incomplete form of the PHACES syndrome with dolichosegmental intracranial arteries as the predominant component, and discuss the etiopathological and clinical significance of this finding.
PHACES syndrome, dolichoectasia, hemangiomas
Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome, characterized by the association of facial port-wine hemangiomas in the trigeminal nerve distribution area, with vascular malformation(s) of the brain (leptomeningeal angioma) with or without glaucoma. Herein, we reported Sturge-Weber syndrome in a 50-year-old man, who presented port-wine hemangiomas and epilepsy. In this case, the patient's epilepsy episodes from his first year of life had been ignored and separated from the entity of SWS by his physicians, which led to delayed treatment. This case illustrates the importance of careful examination of patients of any age with hemangiomas in the trigeminal nerve with concomitant episodes of epilepsy. In such cases, there should be yearly neuroimaging screenings to guaranteed early interdisciplinary interventions from the time of definite diagnosis.
Epilepsy; Port-wine hemangioma; Sturge-weber syndrome
Sternal malformation/vascular dysplasia association is a rare congenital dysmorphology, which has not yet been reported in Korea. Its typical clinical features include a sternal cleft covered with atrophic skin, a median abdominal raphe extending from the sternal defect to the umbilicus, and cutaneous craniofacial hemangiomata. We report a case of a full-term newborn who presented with no anomalies at birth, except for a skin defect over the sternum and a supraumbilical raphe. Multiple hemangiomas appeared subsequently on her chin and upper chest wall, and respiratory distress due to subglottic hemangioma developed during the first 2 months of life. Her symptoms were controlled with oral prednisolone administration. No respiratory distress have recurred during the 3-year follow-up period.
Sternum; Malformation; Hemangioma
Coarctation of the aorta is a congenital cardiac malformation that can go undiagnosed until old age with only hypertension as a marker of its presence because clinical signs can be subtle and overlooked if a complete physical exam is not performed.
We report the case of a 45 year–old women, diagnosed with severe coarctation of the aorta just distal to the left subclavian artery, with poststenotic dilatation of the descending aorta and difficult control of blood pressure values. The patient was successfully treated interventionally, by balloon angioplasty with deployment of a covered stent.
We review here the different methods employed for the treatment of coarctation of the aorta in adults, including surgical or percutaneous balloon angioplasty with or without stent placement, underlying their complications and the factors that influence the choice of the best coarctation repair method.
aortic coarctation; balloon angioplasty; covered stent; surgery
A saccular aortic arch aneurysm that is secondary to aortic arch coarctation and that is accompanied by a ventricular septal defect is a rare combination in the adolescent patient. Total simultaneous repair of all of these conditions is desirable, because of the higher morbidity and mortality rates of staged procedures—particularly when resection of the saccular aneurysm is delayed.
Herein, we discuss the case of a 16-year-old boy who underwent simultaneous surgical correction of these malformations. With the aid of cardiopulmonary bypass on the beating heart, the coarctation and the aneurysmal segment were resected, and a tubular Dacron graft was interposed. The ascending aorta and femoral artery were both then cannulated to ensure whole-body perfusion during cardiopulmonary bypass. The ventricular septal defect was closed with the patient under cardioplegic arrest. After 10 days, he was discharged from the hospital without sequelae. We conclude that single-staged repair of cardiac abnormalities and of an aortic arch aneurysm that is secondary to coarctation of the aortic arch can be performed safely and effectively in adolescent and adult patients by use of our technique.
Aorta/surgery; aortic aneurysm/physiopathology/surgery/ultrasonography; aortic coarctation/complications/physiopathology/surgery/ultrasonography; coronary disease/surgery; magnetic resonance angiography; methods; time factors
The incidence of congenital heart defects in patients with Kabuki syndrome is estimated to be about 30%. To date, no specific type of heart malformation is known to be associated with the syndrome. A further 20 unselected children with Kabuki syndrome are presented. The incidence of heart abnormalities in these children is almost twice that previously reported (55%) and juxta-ductal coarctation occurs with a frequency of 25%.
Lobular capillary hemangiomas (LCH) have been cited in the literature as a rare potential cause for recurrent hemoptysis. They are mostly associated with cutaneous and mucosal surfaces. Rarely do they affect the trachea and associated airways in adults. Lobular capillary hemangiomas can be associated with previous trauma to the airway; however, drugs, hormonal shifts, viral oncogenes, production of angiogenic factors, and cytogenetic clonal deletion abnormalities can also influence these lesions. We document a case of a posterior wall tracheal hemangioma with associated recurrent hemoptysis in a 22-year-old male on testosterone therapy. An LCH attached to the posterior tracheal wall can be technically difficult to remove due to risk of perforation and bleeding. There have been no cases documented of posterior wall LCH.
Hepatic hemangioma is the most common benign tumor of the liver. Most such hemangiomas are small, asymptomatic, and have an excellent prognosis. Giant hepatic hemangioma has been reported in the literature, but the exophytic and pedunculated forms of hepatic hemangioma are rare. A 56-year-old woman was referred to our hospital under the suspicion of having a gastric submucosal tumor. Abdominal computer tomography (CT) scans showed a pedunculated mass from the left lateral segment of the liver into the gastric fundus, exhibiting the atypical CT findings of hepatic hemangioma. We therefore decided to perform laparoscopic resection based on the symptoms, relatively large diameter, inability to exclude malignancy, and risk of rupture of the exophytic lesion. The pathology indicated it to be a cavernous hemangioma of the liver. Herein we report a case of pedunculated hepatic hemangioma mimicking a submucosal tumor of the stomach due to extrinsic compression of the gastric fundus.
Hemangioma; Liver; Laparoscopy; Stomach neoplasm
DiGeorge syndrome was diagnosed in an infant who had an interrupted aortic arch, hypoparathyroidism, and low T lymphocyte numbers. Two siblings had heart defects that are not commonly described in DiGeorge syndrome (a membranous ventricular septal defect and coarctation of the aorta respectively). These siblings did not have evidence of thymic dysfunction or hypoparathyroidism. Chromosome analysis showed that the mother, whose cardiovascular examination was normal, and her three offspring with heart defects had a 22q11 interstitial deletion, which was confirmed by molecular analysis. This family suggests that 22q11 deletions can cause apparently isolated heart defects and that the range of these defects may be wider than previously recognised. Once the genes that are deleted in this family are characterised they will be useful candidate genes in the investigation of isolated cardiac malformations.
A review of 126 cases of coarctation of the aorta confirms the need for surgical resection in infants with intractable congestive cardiac failure. The high association with additional cardiovascular abnormalities in patients presenting in early infancy contributes significantly to the mortality. Patients with large ventricular septal defects and coarctation of the aorta are at risk and may require pulmonary artery banding at the time of resection of the aortic coarctation. Long-term complications included restenosis (18 cases) and persistent hypertension (10 cases). In order to prevent persistent hypertension, it is suggested that elective resection of the coarctation be done at 1 year of age.
Objective: Coarctation of the aorta has often been described as a simple form of congenital heart disease. However, rates of re-coarctation reported in the literature vary from 7% to 60%. Re-coarctation of the aorta may lead to worsening systemic hypertension, coronary artery disease and/or congestive cardiac failure. We aimed to describe the rates of re-coarctation in subjects who had undergone early coarctation repair (<2 years of age) and referred for clinically indicated or routine magnetic resonance (MR) surveillance. Methods: We retrospectively identified 50 consecutive subjects (20.2 ± 6.9 years post-repair) imaged between 2004 and 2008. Patient characteristics, rates of re-coarctation and LV/aortic dimensions were examined. Results: Forty percent of subjects had bicuspid aortic valves (BAV). There were 40 cases of end-to-end repair and 10 cases of subclavian flap repair. Re-intervention with balloon angioplasty or repeat surgery had been performed in 32% of subjects. The MRI referrals were clinically indicated in 34% and routine in 66% of patients. Re-coarctation was considered moderate or severe in 34%, mild in 34% and no re-coarctation was identified in 32% of patients. There was no significant difference in the number of cases of re-coarctation identified in the clinically indicated versus routine referrals for MR imaging (p = 0.20). There were no cases of aortic dissection or aneurysm formation identified amongst the subjects. The mean indexed left ventricular mass and ejection fraction was 72 ± 16 g/m2 and 66 ± 6%, respectively. Amongst those subjects with BAV there were larger aortic sinus (30 ± 1 mm vs 27 ± 1 mm, p = 0.03) and ascending aortic (27 ± 1 mm vs 23 ± 1 mm, p = 0.01) dimensions when compared to subjects with morphologically tricuspid aortic valves. Conclusions: We demonstrate that many years after early repair of coarctation of the aorta, MR surveillance detects significant rates of re-coarctation. These findings were independent of whether or not there was a clinical indication for imaging. Those patients with BAV disease had larger ascending aortic dimensions and may require more frequent non-invasive surveillance.
Coarctation; Aorta; Surgery; Magnetic resonance imaging
Klippel-Trenaunay syndrome is a congenital vascular anomaly characterized by a triad of varicose veins, cutaneous capillary malformation, and hypertrophy of bone and (or) soft tissue. Gastrointestinal vascular malformations in Klippel-Trenaunay syndrome may present with gastrointestinal bleeding. The majority of patients with spleenic hemangiomatosis and/or left inferior vena cava are asymptomatic. We herein report a case admitted to the gastroenterology clinic with life-threatening hematochezia and symptomatic iron deficiency anemia. Due to the asymptomatic mild intermittent hematochezia, splenic hemangiomas and left inferior vena cava, the patient did not seek any help for gastrointestinal bleeding until his admittance to our department for evaluation of massive gastrointestinal bleeding. He was referred to angiography because of his serious pathogenetic condition and inefficiency of medical therapy. The method showed that hemostasis was successfully achieved in the hemorrhage site by embolism of corresponding vessels. Further endoscopy revealed vascular malformations starting from the stomach to the descending colon. On the other hand, computed tomography revealed splenic hemangiomas and left inferior vena cava. To the best of our knowledge, this is the first Klippel-Trenaunay syndrome case presenting with gastrointestinal bleeding, splenic hemangiomas and left inferior vena cava. The literature on the evaluation and management of this case is reviewed.
Klippel-Trenaunay syndrome; Gastrointestinal bleeding; Splenic hemangiomas; Left inferior vena cava
Maffucci syndrome is a rare clinical entity (approximately 200 cases have been reported in the medical literature) with a combined occurrence of multiple enchondromas and vascular tumors.
The case of a 43-year-old Japanese man with multiple chondromas and hemangiomas (Maffucci syndrome) is reported. One of the hemangiomas was removed and examined pathologically. The morphological picture was an admixture of cavernous hemangioma and spindle cell hemangioma without cytological atypia or mitosis. Sheets of vacuolated endothelial cells were also observed.
A rare case of hemangioma associated with Maffucci syndrome, focusing on the pathologic nature of the submitted tissue, is reported.
We report the case of a 13-year-old girl with a diffusely hypoplastic right aortic arch, anomalous origin of the left subclavian artery, and a small, insignificant ventricular septal defect. The patient's pulse was forceful at the carotid arteries, but it was markedly weaker at all extremities. Catheterization revealed that both common carotid arteries arose from the dilated ascending aorta; the right subclavian and vertebral arteries arose from the hypoplastic posterior segment of the aortic arch, and the left subclavian artery arose from the normally developed descending aorta. The pressure gradient between the ascending and descending aorta was 80 mmHg. A bypass grafting procedure was performed to connect the ascending and the upper abdominal aorta. No pressure gradient remained after the operation, nor was a gradient detected during 2 years of follow-up. The origin of both subclavian arteries distal to the area of coarctation resulted in an atypical clinical picture and delayed diagnosis. Ten previously reported cases of coarctation of the aorta with right aortic arch are reviewed.
Two patients with right aortic arch, anomalous left subclavian artery, and coarctation of theaorta, have been operations for the relief of coarctation, successful in one but only partially successful in the other: in one case, a 'dacron' patch was inserted into the narrowed segment, but a mild recurrence of coarctation was found a year later; in the other, the proximal segment of the anomalous left subclavian artery was used for the repair, with complete relief of the coarctation, both immediately and at late follow-up. The first case had multiple associated congenital abnormalities, including anomalous origin of the left circumflex coronary artery from the right pulmonary artery, which was also corrected surgically: this anomaly has only been recorded once hitherto. The second had facial haemangiomata and a small ventricular septal defect. Four previously reported cases of coarctation and right arch are reviewed. These 6 cases are considered in the light of current views on the development and classification of aortic arch anomalies.
Pentalogy of Cantrell is a rare upper midline syndrome that may present in association with anomalies outside the torso. The pentad — the supraumbilical body wall defect, sternal defect, deficiency of the anterior diaphragm, defect of the diaphragmatic pericardium, and the intracardiac anomalies — was first described by Cantrell et al., in 1958. The defect is said to be more common in males, and survival is dependent on the cardiac malformations and on the degree of completeness of the syndrome. We report three cases of Cantrell's pentalogy managed in our unit. Two of the patients were females and one a male. All were seen at peripheral health centers before being referred to us. Age at presentation for the girls was 18 hours and 36 hours, respectively, the boy presented at the age of six weeks. All of their parents were unschooled manual workers. All patients presented with a defect in the supraumbilical body wall, bifid sternum, and a visible cardiac impulse. We were unable to do echocardiography to rule out intracardiac anomalies in the three patients. The thin membranous covering of the epigastrium in the female patients was managed conservatively. Both female patients were discharged against medical advice as requested by their parents, due to financial constraints. The male patient was lost to follow up after two clinic visits. A multidisciplinary approach to the management of this syndrome is recommended.
Pattern; pentalogy of cantrell; sternal defect
Coarctation of the aorta in the adulthood is sometimes associated with additional cardiovascular pathologies that require intervention. Ideal approach in such patients is uncertain. Anatomic left-sided short aortic bypass from the arcus aorta to descending aorta via median sternotomy allows simultaneuos repair of both complex aortic coarctation and concomitant cardiac operation.
Four adult patients were underwent Anatomic left-sided short aortic bypass operation for complex aortic coarctation through median sternotomy using deep hypothermic circulatory arrest. Concomitant cardiac operations were Bentall procedure for annuloaortic ectasia in one patient, coronary artery bypass grafting for three vessel disease in two patient, and patch closure of ventricular septal defect in one patient.
All patients survived the operation and were alive with patent bypass at a mean follow-up of 36 months. No graft-related complications occurred, and there were no instances of stroke or paraplegia.
We conclude that single-stage repair of adult aortic coarctation with concomitant cardiovascular lesions can be performed safely using this newest technique.
Coarctation of the aorta is a common congenital defect that may be undiagnosed until adulthood. Moreover, coarctation is associated with congenital and acquired cardiac pathology that may require surgical intervention. The management of an adult patient with aortic coarctation and an associated cardiac defect poses a great technical challenge since there are no standard guidelines for the therapy of such a complex pathology. Several extra-anatomic bypass grafting techniques have been described, including methods in which distal anastomosis is performed on the descending thoracic aorta, allowing simultaneous intracardiac repair. We report here a 37-year old man who was diagnosed with an aortic root aneurysm and aortic coarctation. The patient was treated electively with a single-stage approach through a median sternotomy that consisted of valve-sparing replacement of the aortic root and ascending-to-descending extra-anatomic aortic bypass, using a 18-mm Dacron graft. Firstly, the aortic root was replaced with the Yacoub remodelling procedure, and then the distal anastomosis was performed to the descending aorta, behind the heart, with the posterior pericardial approach. The extra-anatomic bypass graft was brought laterally from the right atrium and implanted in the ascending graft. Postoperative recovery was uneventful and a control computed tomographic angiogram 1 month after complete repair showed good results.
Coarctation; Heart defects; Extra-anatomic; Bypass
A 35-year-old man presented to the Emergency Department with a history of severe acute central chest pain and simultaneous bilateral paralysis the legs with double incontinence. There was no significant past medical or family history. A CT scan showed a thoracic dissection of the aorta extending from the aortic root to the aortic bifurcation and in to the common iliac arteries. The patient was consented for an axillo-femoral bypass and was taken to theatre and operated on for 7 hours. The patient unfortunately died under anaesthesia. A hospital post-mortem was requested to identify the cause of the dissection. The patient’s heart was sent to a cardiac pathologist who identified an undiagnosed coarctation of the aorta. Genetic testing was negative for Marfan syndrome.
As a result of the post-mortem, it was recommended that first degree relatives of the deceased undergo ultrasound examination of the cardiovascular system as appropriate to exclude coarctation of the aorta.