Total pulmonary arterial reconstruction in a patient with arterial tortuosity syndrome affecting the pulmonary artery: a case report and review of the literature.

BACKGROUND: Arterial tortuosity syndrome is a rare Autosomal recessive disease that leads to a loss of function of the connective tissues of the body, this happens due to a mutation in the solute carrier family 2 member 10 (SLC2A10) gene. ATS is more likely to occur in Large and medium-sized arteries including the aorta and pulmonary arteries. This syndrome causes the arteries to be elongated and tortuous, This tortuosity disturbs the blood circulation resulting in stenosis and lack of blood flow to organs and this chronic turbulent flow increases the risk of aneurysm development, dissection and ischemic events. CASE PRESENTATION: A 2 years old Arabian female child was diagnosed with ATS affecting the pulmonary arteries as a newborn, underwent a pulmonary arterial surgical reconstruction at the age of 2 years old due to the development of pulmonary artery stenosis with left pulmonary artery having a peak gradient of 73 mmHg with a peak velocity of 4.3 m/s and the right pulmonary artery having a peak gradient of 46 mmHg with a peak velocity of 3.4 m/s causing right ventricular hypertension. After surgical repair the left pulmonary artery has a peak pressure gradient of 20 mmHg, with the right pulmonary artery having a peak pressure gradient of 20 mmHg. CONCLUSION: ATS is a rare genetic condition that affects the great arteries especially the pulmonary arteries causing stenotic and tortuous vessels that may be central branches or distal peripheral branches that leads to severe right ventricular dysfunction and hypertension. We believe that surgical treatment provides the optimum outcomes when compared to transcather approaches especially when the peripheral arteries are involved. Some challenges and hiccups might occur, especially lung reperfusion injury that needs to be diagnosed and treated accordingly.

Giant aortic aneurysm repair in a child due to arterial tortuosity syndrome.

Arterial tortuosity syndrome is an extremely rare hereditary connective tissue disorder. We present a case of an incidentally diagnosed aneurysm of the aortic root and the ascending aorta caused by arterial tortuosity syndrome, which was confirmed genetically. The aneurysm was repaired surgically. One year after the procedure, there was no further dilation of the aorta or formation of new aneurysms.

Multiple vascular malformations in a newborn.

We describe the case of a term newborn who presented with congenital testicular torsion at 10 hours of age. During the evaluation of this problem, additional malformations were encountered. Diagnostic and therapeutic considerations are addressed.

Imaging in a Rare Case of Neonatal Arterial Tortuosity Syndrome.

Arterial tortuosity syndrome (ATS) is a very rare autosomal recessive disorder that affects the connective tissue. The incidence of ATS is not well known and to date only 106 patients have been described in the literature. ATS affects medium and large size arteries, leading to widespread elongation and intensification of the average vessel tortuousness, responsible of several loops and kinks. Like other connective tissue disorders, ATS can present with joint laxity, hernias, pectus excavatum, scoliosis or other musculoskeletal abnormalities, and ocular defects. Due to the extreme variability of clinical symptoms and the fact that ATS has no curative management, prompt diagnosis is of tremendous importance to prevent disease-associated complications. In this situation, imaging techniques have a central role. In this study, we describe a rare case of a male newborn with tortuosity and lengthening of the main arterial and venous medium and large caliber branches with associated aortic coarctation who passed away prematurely. The finding of aortic coarctation in a newborn with ATS has rarely been described in the literature.

Arterial Tortuosity Syndrome: Unraveling a Rare Vascular Disorder.

Arterial tortuosity syndrome (ATS) is a rare genetic disorder characterized by abnormal twists and turns of arteries, leading to cardiovascular complications. This syndrome, first reported around 55 years ago, is inherited in an autosomal recessive manner and affects both genders. ATS manifests primarily in childhood, with arterial abnormalities disrupting blood circulation, increasing shear stress, and causing complications, such as atherosclerosis and strokes. This article reviews the genetics, etiology, pathophysiology, clinical presentation, diagnosis, associated conditions, management, and challenges of ATS. The syndrome's genetic cause is linked to mutations in the SLC2A10 gene, affecting collagen and elastin synthesis. Arterial tortuosity, a complex phenomenon, arises from factors such as vessel elongation, anatomic fixation, and vessel diameter. ATS is one of many conditions associated with arterial tortuosity, including Marfan syndrome and Loeys-Dietz syndrome. Recent studies highlight arterial tortuosity's potential as a prognostic indicator for adverse cardiovascular events. Management requires a multidisciplinary approach, and surveillance and prevention play key roles. Despite challenges, advancements in understanding ATS offer hope for targeted therapies and improved patient care.

Arterial tortuosity syndrome presented as nonvisualization of thoracic aorta in preoperative transthoracic echocardiogram: A case report.

Arterial tortuosity syndrome is a rare genetic disorder characterized by dilation, elongation, and significant tortuosity of major arteries. Approximately 100 cases of this disorder have been reported worldwide, including 3 reports in Iran. We describe a case of arterial tortuosity syndrome suspected during the preoperative evaluation for hypertrophic pyloric stenosis, where the thoracic aorta was not visualized appropriately in transthoracic echocardiography. Our report focuses on identifying the disease through diagnostic imaging.

Arterial Tortuosity Syndrome in a Newborn: A Case Report With Literature Review.

Arterial tortuosity syndrome (ATS; OMIM #208050) is a sporadic, autosomal, recessively inherited genetic disorder. ATS primarily causes the tortuosity and elongation of large and medium-sized arteries; however, other skeletal manifestations include dysmorphic features, such as hyperextensible skin, hypermobile joints, and congenital contractures. The present article reports the case of a female neonate, who, at birth, exhibited abnormal facial features, hypermobility of joints, and abnormal physical appearance. The patient was diagnosed with ATS during the first week of life, based on computed tomographic scans. In addition, angiographic results demonstrated elongation and tortuosity of the aorta, which were further supported using the results of genetic analysis. Mutation analysis of the solute carrier family 2 member 10 (SLC2A10) genes (Entrez Gene: 81031) detected a homozygous pathogenic c.243C>G (p. Ser81Arg) variant (dbSNP: rs80358230) in this patient, which supports the clinical diagnosis of ATS. Following the initial diagnosis, further investigations into the family history were carried out, and the results demonstrated that the patient's paternal grandmother and paternal aunt were also positive for ATS. The patient was subsequently referred to a tertiary care center for genetic counseling and further follow-up. Notably, carrier testing for at-risk relatives is recommended to identify family members that may be affected by this condition.

Challenging echocardiographic pictures of aortic arch: when heart murmur leads to a rare diagnosis.

We describe the case of a 2-week-old boy referred for systolic murmur. His echocardiography showed challenging pictures of the aortic arch, which led to the rare diagnosis of arterial tortuosity syndrome.

A rare case of arterial tortuosity syndrome in an adult.

Arterial tortuosity syndrome (ATS) is rare autosomal recessive connective tissue disorder. It affects large and medium-sized arteries inducing tortuosity and elongation. Typical skeletal manifestations are dysmorphic features, hyperextensible skin, hypermobile joints, and congenital contractures. We present a case of a 33-year-old female, with history of multiple abdominal wall hernias, who was diagnosed with ATS by preoperative investigations based on typical vascular manifestations. We will present the radiological findings of this rare condition.

Ultrastructure abnormalities of collagen and elastin in Arab patients with arterial tortuosity syndrome.

Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disease characterized by elongation and tortuosity of the large- and medium-sized arteries. ATS patients display features that are also found in Ehlers-Danlos syndrome (EDS) patients. ATS is caused by pathogenic mutations in the SLC2A10 gene, which encodes for the glucose transporter, GLUT10. This study aimed at examining the ultrastructure of skin for abnormalities that can explain the loose skin and arterial phenotypes of Arab patients with the p.S81R mutation in SLC2A10. Forty-eight patients with SLC2A10 mutation were recruited for this study. Skin biopsy specimens from three children with ATS and a healthy child were examined by electron microscopy to determine the ultrastructure of collagen and elastin. Histopathologic staining of sections from tissue biopsy specimens was also performed. Large spaces were observed among the collagen fibrils in the skin biopsy specimens obtained from ATS patients, suggesting disorganization of the collagen structures. Furthermore, elastin fiber contents and their thickness are reduced in the skin. In small muscular arteries in the skin from ATS patients, discontinuous internal elastic lamina, lack of myofilaments, and disorganized medial smooth muscle cells with vacuolated cytoplasm are present. The disorganization of collagen fibrils and reduced elastin contents in the skin may explain the loose skin phenotype of ATS patients similar to the EDS patients. The lack of elastin in small muscular arteries may have contributed to the development of arterial tortuosity in these patients.

Corneal stromal deposits in connective tissue disease, a case series.

PURPOSE: We report two cases of refractile, peripheral, corneal stromal deposition in two patients with arterial tortuosity syndrome (ATS) and Ehlers-Danlos syndrome (EDS), two closely related connective tissue diseases (CTDs). OBSERVATIONS: Patient 1: A 21-year-old man with history of ATS and keratoectasia presented with bilateral peripheral corneal neovascularization with numerous whitish brown, refractile, deep stromal opacities that were circumferential along the inferotemporal cornea. After 3 years of follow-up, the corneal deposits did not progress, but the ectasia did, with significant bilateral corneal steepening and thinning for which the patient was recommended to undergo repeat corneal collagen cross linking. Patient 2: A 26-year-old man with presumed diagnosis of EDS presented with numerous whitish brown, refractile, deep stromal opacities that were circumferential along the temporal cornea in the right eye, and superiorly in the left eye. The left eye had a pseudopterygium involving 50% of the cornea. After 2 years of follow-up, the corneal opacities did not progress; however, the patient underwent primary excision of the pseudopterygium and subsequently had conjunctivalization of the entire cornea. The lesions in both cases resembled those seen in Terrien's marginal degeneration. CONCLUSIONS AND IMPORTANCE: Peripheral corneal stromal deposits have never been reported before in EDS or ATS or other connective tissue diseases. This case series may prompt further inquiry and characterization of these findings in patients with CTDs.

Arterial tortuosity syndrome causing recurrent transient ischemic attacks in young adult: a case report.

BACKGROUND: Arterial Tortuosity Syndrome (ATS) is a rare autosomal recessive disorder characterized by elongated and tortuous arteries. Although ATS showed a significant clinical and pathophysiological overlap with other syndromes involving connective tissues, only few cases of cerebrovascular events related to this syndrome have been described so far. CASE PRESENTATION: We report the case of a 33-years-old male diagnosed with ATS since childhood, that experienced three sudden episodes of expressive aphasia and right hemiparesis with spontaneous resolution. He was treated with recombinant tissue plasminogen activator (r-TPA) at a dosage of 0.9 mg/kg with a complete recovery. Brain Magnetic Resonance Imaging (MRI) showed the absence of acute ischemic lesions and the patient was diagnosed with recurrent transient ischemic attacks (TIA). Intracranial and supra-aortic trunks Magnetic Resonance Angiography (MRA) and Angio-CT scan of the thoracic and abdominal aorta showed marked vessel tortuosity without stenosis. To our knowledge, this is the first reported case of an ATS patient with TIA in young age that was treated with intravenous thrombolysis with recombinant plasminogen activator. CONCLUSION: Our report strengthens the relationship between ATS and juvenile cerebrovascular events, suggesting that an extensive study of body vessels in order to detect potential stenoses or occlusions in these cases is needed. The greater predisposition to cerebrovascular events in ATS could benefit from a more aggressive primary and secondary prevention therapy.

Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-ß Signaling.

Marfan Syndrome (MFS) and Loeys-Dietz Syndrome (LDS) represent heritable connective tissue disorders that segregate with a similar pattern of cardiovascular defects (thoracic aortic aneurysm, mitral valve prolapse/regurgitation, and aortic dilatation with regurgitation). This pattern of cardiovascular defects appears to be expressed along a spectrum of severity in many heritable connective tissue disorders and raises suspicion of a relationship between the normal development of connective tissues and the cardiovascular system. With overwhelming evidence of the involvement of aberrant Transforming Growth Factor-beta (TGF-ß) signaling in MFS and LDS, this signaling pathway may represent the common link in the relationship between connective tissue disorders and their associated cardiovascular complications. To further explore this hypothetical link, this chapter will review the TGF-ß signaling pathway, the heritable connective tissue syndromes related to aberrant TGF-ß signaling, and will discuss the pathogenic contribution of TGF-ß to these syndromes with a primary focus on the cardiovascular system.

Arterial tortuosity syndrome: relevance in pediatric surgery. A case report. / El síndrome de tortuosidad arterial y su relevancia en cirugía pediátrica. A propósito de un caso.

INTRODUCTION: Arterial tortuosity syndrome (ATS) is an extremely rare autosomal recessive disorder of the connective tissue. It is characterized by tortuosity and elongation of medium and large arteries, with multiple disorders associated with the widespread involvement of the connective tissue. CASE REPORT: Newborn diagnosed with ATS, with multiple vascular malformations, hiatal hernia, and bilateral inguinal hernia. He underwent surgery at three months of age. The hiatal hernia was closed, and bilateral inguinal hernia repair was performed. The inguinal hernias required up to 4 surgeries as a result of recurrences.During follow-up, the patient had retrocardiac diaphragmatic hernia. It was operated on, with subsequent incisional hernia. 8 years later, he was admitted as a result of septic shock secondary to intestinal occlusion. Emergency surgery was scheduled, demonstrating gastric herniation in the right pleural cavity, with perforation of the fundus. The patient died at the ICU 24 hours later. DISCUSSION: The pediatric surgeon should be familiar with ATS, since it may cause multiple surgical pathologies, it is difficult to manage, and it is associated with a high risk of recurrence and complications.

INTRODUCCION: El síndrome de tortuosidad arterial (STA) es un trastorno autosómico recesivo del tejido conectivo muy infrecuente, caracterizado por tortuosidad y elongación de arterias de medio y gran calibre y múltiples trastornos derivados de la afectación generalizada del tejido conectivo. CASO CLINICO: Neonato diagnosticado de STA, con múltiples malformaciones vasculares, hernia de hiato y hernia inguinal bilateral. Intervenido a los tres meses, practicándose cierre de hernia de hiato y herniorrafia inguinal bilateral. Estas últimas requirieron hasta cuatro intervenciones por recidiva. Durante el seguimiento presentó hernia diafragmática retrocardiaca, siendo intervenida, con posterior eventración. A los ocho años ingresó por shock séptico secundario a oclusión intestinal. Se intervino urgente objetivando herniación gástrica en cavidad pleural derecha con perforación en fundus. El paciente falleció en la UCI tras 24 horas. COMENTARIOS: El cirujano pediátrico debe conocer el STA debido a la múltiple patología quirúrgica que puede presentar, difícil manejo, riesgo de recidiva y complicaciones.

El síndrome de tortuosidad arterial y su relevancia en cirugía pediátrica. A propósito de un caso / Arterial tortuosity syndrome: relevance in pediatric surgery. A case report

Introducción: El síndrome de tortuosidad arterial (STA) es untrastorno autosómico recesivo del tejido conectivo muy infrecuente,caracterizado por tortuosidad y elongación de arterias de medio y grancalibre y múltiples trastornos derivados de la afectación generalizadadel tejido conectivo. Caso clínico: Neonato diagnosticado de STA, con múltiples malfor-maciones vasculares, hernia de hiato y hernia inguinal bilateral.Intervenido a los tres meses, practicándose cierre de hernia de hiatoy herniorrafia inguinal bilateral. Estas últimas requirieron hasta cuatrointervenciones por recidiva. Durante el seguimiento presentó hernia diafragmática retrocardiaca,siendo intervenida, con posterior eventración.A los ocho años ingresó por shock séptico secundario a oclusiónintestinal. Se intervino urgente objetivando herniación gástrica en ca-vidad pleural derecha con perforación en fundus. El paciente fallecióen la UCI tras 24 horas. Comentarios: El cirujano pediátrico debe conocer el STA debidoa la múltiple patología quirúrgica que puede presentar, difícil manejo,riesgo de recidiva y complicaciones.(AU)

Introduction: Arterial tortuosity syndrome (ATS) is an extremelyrare autosomal recessive disorder of the connective tissue. It is charac-terized by tortuosity and elongation of medium and large arteries, withmultiple disorders associated with the widespread involvement of theconnective tissue. Clinical case: Newborn diagnosed with ATS, with multiple vascularmalformations, hiatal hernia, and bilateral inguinal hernia. He underwent surgery at three months of age. The hiatal hernia wasclosed, and bilateral inguinal hernia repair was performed. The inguinalhernias required up to 4 surgeries as a result of recurrences.During follow-up, the patient had retrocardiac diaphragmatic hernia.It was operated on, with subsequent incisional hernia.8 years later, he was admitted as a result of septic shock secondaryto intestinal occlusion. Emergency surgery was scheduled, demonstrating gastric herniation in the right pleural cavity, with perforation of thefundus. The patient died at the ICU 24 hours later. Discussion: The pediatric surgeon should be familiar with ATS,since it may cause multiple surgical pathologies, it is difficult to manage,and it is associated with a high risk of recurrence and complications.(AU)

Two fetuses in one family of arterial tortuosity syndrome: prenatal ultrasound diagnosis.

BACKGROUND: Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder chiefly characterized by elongated and tortuosity of the large and medium sized arteries and anomalies of the vascular elastic fibers. Here we reported cases of brother about ATS from the same family on the prenatal ultrasound diagnosis. Reports of this case are rare in antenatally and we draw the vessel simulated diagram to display visually. CASE PRESENTATION: Prenatal ultrasound scanning at 29 weeks of gestation of the first fetus showed obvious tortuous and elongated of the aortic arch, ductus arteriosus, left and right pulmonary arteries, carotid and subclavian arteries. Three months after delivery, Contrast-enhanced computed tomography images (CTA) were performed to clearly display vascular abnormalities consistent with prenatal diagnosis of ultrasound. Whole exome sequencing (WES) was performed eight months after birth, two heterozygous variants of SLC2A10 gene was detected in newborn and their father and mother, respectively. Prenatal ultrasound scan at 22 weeks of gestation of the second fetus showed similar cardiovascular imaging. After birth the siblings have facial characteristic features gradually as aging. No surgical intervention was performed in the siblings follow up 19 months. CONCLUSIONS: The key points of prenatal ultrasound diagnosis of ATS are the elongation and tortuosity of the large and medium sized arteries. Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.

Arterial Tortuosity Syndrome: An Ascorbate Compartmentalization Disorder?

Significance: Cardiovascular disorders are the most important cause of morbidity and mortality in the Western world. Monogenic developmental disorders of the heart and vessels are highly valuable to study the physiological and pathological processes in cardiovascular system homeostasis. The arterial tortuosity syndrome (ATS) is a rare, autosomal recessive connective tissue disorder showing lengthening, tortuosity, and stenosis of the large arteries, with a propensity for aneurysm formation. In histopathology, it associates with fragmentation and disorganization of elastic fibers in several tissues, including the arterial wall. ATS is caused by pathogenic variants in SLC2A10 encoding the facilitative glucose transporter (GLUT)10. Critical Issues: Although several hypotheses have been forwarded, the molecular mechanisms linking disrupted GLUT10 activity with arterial malformations are largely unknown. Recent Advances: The vascular and systemic manifestations and natural history of ATS patients have been largely delineated. GLUT10 was identified as an intracellular transporter of dehydroascorbic acid, which contributes to collagen and elastin cross-linking in the endoplasmic reticulum, redox homeostasis in the mitochondria, and global and gene-specific methylation/hydroxymethylation affecting epigenetic regulation in the nucleus. We revise here the current knowledge on ATS and the role of GLUT10 within the compartmentalization of ascorbate in physiological and diseased states. Future Directions: Centralization of clinical, treatment, and outcome data will enable better management for ATS patients. Establishment of representative animal disease models could facilitate the study of pathomechanisms underlying ATS. This might be relevant for other forms of vascular dysplasia, such as isolated aneurysm formation, hypertensive vasculopathy, and neovascularization. Antioxid. Redox Signal. 34, 875-889.

First antenatally confirmed case of arterial tortuosity syndrome.

Arterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It predominantly involves the arterial tree with clinical features reflecting the systems involved. There have been few cases of ATS suspected during antenatal screening ultrasound in high-risk families, but none confirmed. We present the first case of ATS confirmed antenatally in the fetus with cascade testing, detecting the disease in the mother as well.

Ascending Aortic Aneurysm in a Case of Arterial Tortuosity Syndrome: A Rare Tortuous Disorder.

Aortic aneurysms are a common entity among adults but very rare in the pediatric age-group. Association with autosomal inheritance is well established. We describe the unusual clinical presentation of a large ascending aortic aneurysm in a young child who was ultimately found to have severe diffuse arterial tortuosity.