• Journal of Genetic Medicine
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• 제18권2호
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• pp.142-146
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• 2021

Alagille syndrome (AGS) is a rare autosomal dominant inherited disorder, with major clinical manifestations of bile duct paucity, cholestasis, cardiovascular anomaly, ophthalmic abnormalities, butterfly vertebrae, and dysmorphic facial appearance. It is caused by heterozygous mutations in JAG1 or NOTCH of the Notch signaling pathway presenting with variable phenotypic penetrance and involving multiple organ systems. The following case report describes a unique case of a 16-year-old female with AGS who presented with the primary complaint of renovascular hypertension. She had a medical history of ventricular septal defect and polycystic ovary syndrome. The patient had a dysmorphic facial appearance including frontal bossing, bulbous tip of the nose, a pointed chin with prognathism, and deeply set eyes with mild hypertelorism. Stenoocclusive changes of both renal arteries, celiac artery, lower part of the abdominal aorta, and left intracranial artery, along with absence of the left internal carotid artery were found on examination. Whole exome sequencing was performed and revealed a pathologic mutation of JAG1, leading to the diagnosis of AGS. Reverse phenotyping detected butterfly vertebrae and normal structure and function of the liver and gallbladder. While the representative symptom of AGS in most scenarios is a hepatic problem, in this case, the presenting clinical features were the vascular anomalies. Clinical manifestations of AGS are diverse, and this case demonstrates that renovascular hypertension might be in some cases a presenting symptom of AGS.

• Journal of Veterinary Science
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• 제24권4호
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• pp.50.1-50.6
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• 2023

This paper reports the clinical findings and surgical treatment of feline right patent ductus arteriosus (RPDA) with a left aortic arch. A two-month-old female Maine Coon was referred for an investigation of regurgitation after weaning. RPDA with a left aortic arch was diagnosed based on the echocardiographic and computed tomography (CT) findings. A right-fourth intercostal thoracotomy was found to be an appropriate approach to the duct. Preoperative diagnosis is crucial and diagnostic imaging, including radiography, echocardiography, and cardiac CT examination, is essential for determining if the aortic arch is right or left.

• Journal of Chest Surgery
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• 제47권4호
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• pp.389-393
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• 2014

Retroesophageal aortic arch, in which the aortic arch crosses the midline behind the esophagus to the contralateral side, is a rare form of vascular anomaly. The complete form may cause symptoms by compressing the esophagus or the trachea and need a surgical intervention. We report a rare case of a hypoplastic left heart syndrome variant with the left retroesophageal circumflex aortic arch in which the left aortic arch, retroesophageal circumflex aorta, and the right descending aorta with the aberrant right subclavian artery encircle the esophagus completely, thus causing central bronchial compression. Bilateral pulmonary artery banding and subsequent modified Norwood procedure with extensive mobilization and creation of the neo-aorta were performed. As a result of the successful translocation of the aorta, the airway compression was relieved. The patient underwent the second-stage operation and is doing well currently.

• Neonatal Medicine
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• 제25권3호
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• pp.126-130
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• 2018

Parkes Weber syndrome is a rare congenital vascular anomaly, related to the RAS p21 protein activator 1 (RASA1) gene. It is characterized by capillary cutaneous malformations, bony and soft tissue hyperplasia, and multiple arteriovenous fistulas throughout the affected upper or lower extremity. These arteriovenous fistulas can be associated with life-threatening complications such as bleeding, thrombosis, and high output heart failure. In this report, we present a neonate who had a disproportionately hypertrophied left upper limb with port-wine stain, dystrophy of the left humerus, and hypertrophy of the left clavicle on X-ray, and arteriovenous malformation and massive dilatation of the left subclavian artery on magnetic resonance angiography. Exome sequencing analysis revealed a novel heterozygous splicing mutation (c.1776+2T>A) in the RASA1 gene. To the best of our knowledge, this report is the first case of RASA1-related Parkes Weber syndrome in Korea.

• Journal of Chest Surgery
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• 제11권3호
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• pp.342-347
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• 1978

A 8 year old male was admitted to the Department of Thoracic Surgery, Korea University Hospital on June 22, 1978. The chief complaints were cyanosis and exertional dyspnea since at birth. EKG shows BVH and dextrocardia, phonocardiogram revealed the accentuation of second heart sound in aortic area. Echocardiogram from the left ventricle to the base of the heart, there is a discontinuity between the ventricular septum and the anterior aortic margin with a large aortic root & aortic overriding. His cardiac catheterization data and cardiac angiogram shows situs inversus totalis, dextrocardia, right aortic arch, large ventricular septal defect etc., and finally diagnosed Truncus Arteriosus. Edwards type IV with retrograde aortogram and selective bronchial angiogram. This is the first operative case reported as Rastelli operation for Truncus Arteriosus type IV in the literatures in Korea. Authors have experienced I case of Truncus Arteriosus, Edward type IV and Rastelli operation with Dacron Arterial Conduit Graft under cardiopulmonary bypass on July 3, 1978. The procedures were as follows; 2] Cardiopulmonary bypass: Origin of bronchial arteries excised from descending aorta bilaterally; defects in aorta closed. 2] Horizontal incision made high in right ventricle. 2] Ventricular septal defect [Kirklin type I+II] closed with Teflon patch. 4] Bifurcated dacron arterial graft with pericardial monocusp sutured to the bilateral pulmonary arteries. [Diameter 9 mm: Length 7 cm]. 5] Proximal end of the conduit graft anastomosed to right ventricle. [Diameter 19 mm: Length 5 cm]..Total perfusion time was 220 min. The result of operation was poor due to anastomotic leakage and increased pulmonary vascular resistance resulting acute right heart failure. The patient was died on the operation table. Literatures were briefly reviewed.

• Journal of Korean Neurosurgical Society
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• 제46권6호
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• pp.568-571
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• 2009

Accessory middle cerebral artery (MCA) is an infrequent vascular anomaly of the brain. Cerebral aneurysms associated with this anomalous artery are also very rare. To our knowledge, there have only been ten previous reports of an aneurysm associated with accessory MCA. The authors present two patients with accessory MCA-related aneurysms. A 38-year-old male and a 59-year-old female both presented with sudden-onset severe headache. In both patients, computed tomography (CT) scan revealed subarachnoid hemorrhage. A subsequent angiogram demonstrated an accessory MCA arising from the anterior cerebral artery (ACA) and a saccular aneurysm at the anterior communicating artery (ACoA) complex associated with an accessory MCA. Surgical clipping allowed for complete exclusion of the aneurysm from the arterial circulation. Based on our review of the ten cases of aneurysms associated with accessory MCA documented in the literature, we suggest that accessory MCA-related aneurysms can be classified according to whether the accessory MCA originates from the proximal A1 segment or from the ACoA complex. We also emphasize the importance of precise interpretation of preoperative angiograms and intraoperative precaution in determining the presence of this anomalous artery prior to temporary clip placement.

• Journal of Korean Neurosurgical Society
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• 제61권1호
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• pp.28-34
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• 2018

Objective : Duplication of the vertebral artery (VA) is a rare vascular variant. This paper describes the anatomy and embryological development of duplicated VAs and reviews the clinical significance. Methods : Computed tomography (CT) angiography was performed in 3386 patients (1880 females, 1506 males) between March 2014 and November 2015. We defined duplication of the VA as a condition in which the VA has two origins that fused at different levels of the neck. Results : Ten of the 3386 patients (0.295%) who received CT angiography had a dual origin of the VA; three on the left side, and seven on the right side. In all seven with right dual origin of the VA, both limbs of the VA origin originated from the right subclavian artery. In all three patients with left dual origin of the VA, both limbs of the VA originated from the left subclavian artery and aortic arch. In all 10 patients, the medial limb of the duplicated VA was located posteriorly and medially to the common carotid artery (CCA) and anteriorly and laterally to the vertebral transverse foramen. In two patients, the medial limb of the duplicated VA was located in close proximity to the CCA. In another two patients, the medial limb of the duplicated VA was located in close proximity to the CCA, carotid bifurcation, and proximal internal carotid artery. Conclusion : Although duplication of the VA is asymptomatic in most patients, clinicians should consider this anomaly during diagnosis and treatment.

• Journal of Chest Surgery
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• 제40권11호
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• pp.777-781
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• 2007

폐동맥 슬링은 좌 폐동맥이 우 폐동맥으로부터 이상 기시하여 기관의 후방으로 주행하는 혈관기형으로 주로 기관협착에 의한 호흡기 증상을 일으키는 매우 드문 선천성 질환이다. 심혈관 기형이나 기관의 기형과 동반되는 경우가 많고, 드물게 호흡기 증상 없이 청소년기나 성인에서 우연히 발견되는 경우도 있다. 본 증례는 14세 환아에서 우연히 발견된 이중 폐동맥 슬링(double pulmonary artery sling)을 경험하고 수술 치료하였기에 보고하는 바이다.

• Pediatric Gastroenterology, Hepatology & Nutrition
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• 제18권3호
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• pp.197-201
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• 2015

Complete colonic duplication is a very rare congenital anomaly that may have different presentations according to its location and size. Complete colonic duplication can occur in about 15% of all gastrointestinal duplications. Double termination of tubular colonic duplication in the perineum is even more uncommon. We present a case of a Y-shaped tubular colonic duplication which presented with a rectovestibular fistula and a normal anus. Radiological evaluation and initial exploration for sigmoidostomy revealed duplicated colons with a common vascular supply. Endorectal mucosal resection of theduplicated distal segment till the colostomy site with division of the septum of the proximal segment and colostomy closure proved curative without compromise of the continence mechanism. Tubular colonic duplication should always be ruled out when a diagnosis of perineal canal is considered in cases of vestibular fistula alongwith a normal anus.

• Journal of Chest Surgery
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• 제7권1호
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• pp.85-92
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• 1974

During the years 1959 to 1974, 99 patients with patent ductus arteriosus were admitted to National University Hospital. These includes 5 patients with additional cardiovascular and 5 patients with severe pulmonary hypertension. All were operated upon except three refused operation. In all instances, the diagnosis was made by history and physical, roentgenological and electrographic examinations. In addition, in 53 patients, special diagnostic procedures were carried out either for diagnosis or for evaluation of pulmonary hypertension and associated cardiovascular anomalies. Right cardiac catheterization was resorted to in 51 patients. In one of these patients catheterization was incorrectly interpreted [ventricular septal defect]. Retrograde aortogram was performed in two patients. In both cases the ductus itself was visualized on the x-ray film. An additional vascular anomaly, namely the persistent left superior vena cava, was confirmed by retrograde angiogram in one of them. In 5 cases the pulmonary arterial pressure was elevated well over 80 mmHg. In these instances,the operative mortality was 80% [4 out of 5 patients]. The management of patent ductus arteriosus when associated with severe pulmonary hypertension. and/or other cardiac anomalies is controversial. Opinions differ as to how to close the ductus and to repair the cardiac anomalies as well as to whether a one-staged or two-staged procedure should be resorted to. The author is of the that each case must be evaluated individually before any specific surgical treatment is ou.tlined. The literature on the subject is reviewed in this paper.