Clinical variability in two Macedonian families with Arterial tortuosity syndrome

Kočova, Mirjana; Kacarska, Rozana; Kuzevska-Maneva, K; Prijić, Sergej; Lazareska, Menka; Dordoni, Chiara; Ritelli, Marco; Colombi, Marina

doi:10.2478/bjmg-2018-0009

Cited by 6 publications

(6 citation statements)

References 15 publications

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“…A mortality rate of 40% was reported in patients under five years [ 9 ]. There is an increased risk for respiratory insufficiency, ventricular hypertrophy resulting in global heart failure, progressive myocardiopathy, aneurysm development, and dissection, which can involve the aortic root and potentially entire arterial tree [ 2 , 9 , 11 , 16 ]. Moreover, patients with ATS are susceptible to vascular ischemia involving cerebrovascular circulation, which may cause a non-hemorrhagic stroke and infarctions in the abdominal arteries at any age.…”

Section: Discussionmentioning

confidence: 99%

“…A single case of ATS presenting with epilepsy was also reported, indicating that some patients presenting with epilepsy might need serious cerebral vascular evaluation [ 17 ]. A case with severe tortuosity of cerebral arteries causing migraine headaches has also been reported, suggesting that further attention is needed to investigate the intracranial blood flow changes in ATS cases [ 16 ]. In another rare case, Naunheim et al have observed persistent pulmonary hypertension and an association of venous tortuosity with ATS [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

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

Al-Blushi¹,

Bantan²,

Al-Abdullatif³

et al. 2022

Cureus

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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.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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

Al-Blushi¹,

Bantan²,

Al-Abdullatif³

et al. 2022

Cureus

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“…GLUT10 is critical for cardiovascular development by facilitating both TGFβ signaling and mitochondrial respiration [24]. We found 24 patients affected by ATORS and with confirmed genetic diagnoses of SLC2A10 mutations [25][26][27][28][29]. ATORS is characterized by tortuosity of the aorta and middle-sized arteries, elongation, stenosis and aneurysm formation in major arteries, leading to disrupted elastic fibers in the medial layers of arterial walls [24,25].…”

Section: Glut10 Deficiencymentioning

confidence: 90%

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review

Conte,

Sam,

Lefeber

et al. 2023

IJMS

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Heart failure (HF) is a progressive chronic disease that remains a primary cause of death worldwide, affecting over 64 million patients. HF can be caused by cardiomyopathies and congenital cardiac defects with monogenic etiology. The number of genes and monogenic disorders linked to development of cardiac defects is constantly growing and includes inherited metabolic disorders (IMDs). Several IMDs affecting various metabolic pathways have been reported presenting cardiomyopathies and cardiac defects. Considering the pivotal role of sugar metabolism in cardiac tissue, including energy production, nucleic acid synthesis and glycosylation, it is not surprising that an increasing number of IMDs linked to carbohydrate metabolism are described with cardiac manifestations. In this systematic review, we offer a comprehensive overview of IMDs linked to carbohydrate metabolism presenting that present with cardiomyopathies, arrhythmogenic disorders and/or structural cardiac defects. We identified 58 IMDs presenting with cardiac complications: 3 defects of sugar/sugar-linked transporters (GLUT3, GLUT10, THTR1); 2 disorders of the pentose phosphate pathway (G6PDH, TALDO); 9 diseases of glycogen metabolism (GAA, GBE1, GDE, GYG1, GYS1, LAMP2, RBCK1, PRKAG2, G6PT1); 29 congenital disorders of glycosylation (ALG3, ALG6, ALG9, ALG12, ATP6V1A, ATP6V1E1, B3GALTL, B3GAT3, COG1, COG7, DOLK, DPM3, FKRP, FKTN, GMPPB, MPDU1, NPL, PGM1, PIGA, PIGL, PIGN, PIGO, PIGT, PIGV, PMM2, POMT1, POMT2, SRD5A3, XYLT2); 15 carbohydrate-linked lysosomal storage diseases (CTSA, GBA1, GLA, GLB1, HEXB, IDUA, IDS, SGSH, NAGLU, HGSNAT, GNS, GALNS, ARSB, GUSB, ARSK). With this systematic review we aim to raise awareness about the cardiac presentations in carbohydrate-linked IMDs and draw attention to carbohydrate-linked pathogenic mechanisms that may underlie cardiac complications.

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“…ATS was initially described as a new type of EDS with tortuous systemic arteries 1 . Because of the discovery of causative mutations in SLC2A10 (GLUT10) in European and the Middle Eastern families, ATS was classified as a distinct syndrome 2‐9 . About 30 unique mutations have been identified in the SLC2A10 gene in ATS patients.…”

Section: Introductionmentioning

confidence: 99%

“…SLC2A10 (GLUT10) in European and the Middle Eastern families, ATS was classified as a distinct syndrome. [2][3][4][5][6][7][8][9] About 30 unique mutations have been identified in the SLC2A10 gene in ATS patients. We have previously described missense SLC2A10 mutations in 23 ATS patients belonging to the 13 consanguineous families from Qatar, Saudi Arabia, and Germany.…”

mentioning

confidence: 99%

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

et al. 2022

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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.

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Clinical variability in two Macedonian families with Arterial tortuosity syndrome

Cited by 6 publications

References 15 publications

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

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

Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review

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

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