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

Liang, Meiling; Wen, Huaxuan

doi:10.1186/s12884-021-03960-w

Cited by 5 publications

(6 citation statements)

References 19 publications

(23 reference statements)

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“…Initially, ATS cases were mainly reported in Europe and Middle Eastern countries, and only sporadic reports were available from other countries. The reason could be this disease is underreported; however, recently, few reports have been published from India, South Korea, China, and Japan [ 8 , 15 , 17 ]. 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 ].…”

Section: Discussionmentioning

confidence: 99%

“…From the analysis of a cohort of 50 new ATS patients and reviewing the 52 previously reported ATS patients’ data, the age at diagnosis for this disease was found to be 4.84 years (mean) and two years (median) [ 2 ]. However, adult cases have been diagnosed at 50 years and above [ 5 - 7 ], and prenatal/antenatal cases of ATS have also been reported [ 8 ].…”

Section: Introductionmentioning

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: Introductionmentioning

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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“…In our series, there was no restrictive DA, but a tortuous DA detected in the 2nd trimester developed into a DAA in the 3rd trimester. DAA can be associated with connective tissue disease [25] and can become complicated by prenatal thrombosis [26] or postnatal extension of the DA thrombus (whose formation is a physiologic event in order for the DA to close) to the adjacent pulmonary artery [27] or to the descending aorta [28]. Thus, an antenatal diagnosis of DAA ensures a proper follow up, with planned delivery in a specialized center where surgical treatment is available.…”

Section: Detecting Minor Chdmentioning

confidence: 99%

The Additional Role of the 3-Vessels and Trachea View in Screening for Congenital Heart Disease

et al. 2022

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Background and Objectives: Although frequent and associated with high mortality and morbidity rate, congenital heart disease (CHD) has a suboptimal prenatal detection rate, with significant variation according to the scanning protocol. The aim of this study was to evaluate the role of the 3-vessels and trachea view (3VT) in detecting CHD, with or without the use of Color Doppler, with an emphasis on major CHD. Materials and Methods: We performed a retrospective study on 1596 unselected pregnant patients presenting at 11–37 weeks of gestation for a routine anomaly scan. We selected all CHD cases, and we analyzed the performance of the 4-chamber (4C) and 3VT view in detecting CHD. Results: A total of 46 fetuses with CHD were identified, yielding a 2.86% overall incidence, and 0.87% for major CHD. Grayscale 4C detected 47.8% of all CHD, going up to 71.7% by adding grayscale 3VT, with no major CHD remaining undetected by combining grayscale 4C and 3VT. Conclusions: Grayscale 4C and 3VT views are effective in detecting major CHD, thus proving their utility even in a low resource setting.

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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.…”

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

Cited by 5 publications

References 19 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

The Additional Role of the 3-Vessels and Trachea View in Screening for Congenital Heart Disease

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

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