Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis

Rivera, Ivan Romero; Gomes, Lourdes; Moisés, Valdir Ambrósio; Silva, Celia Camelo; Andrade, José L.; Carvalho, Antônio Carlos

doi:10.1590/s0066-782x2000000800006

Cited by 17 publications

(15 citation statements)

References 6 publications

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“…Patients usually present with characteristic dysmorphic features including an elongated face, blepharophimosis and downslanting palpebral fissures, a beaked nose, a highly arched palate, and micrognathia. Other connective tissue manifestations comprise a soft, hyperextensible skin and skeletal abnormalities such as arachnodactyly, pectus deformity, joint laxity, and contractures [Abdul Wahab et al, 2003;Beuren et al, 1969;Ertugrul, 1967;Franceschini et al, 2000;Gardella et al, 2004;Lees et al, 1969;Meyer et al, 2005;Pletcher et al, 1996;Rivera et al, 2000;Welch et al, 1971;Wessels et al, 2004;Zaidi et al, 2005]. Patients are prone to aneurysm formation, dissections, and ischemic events [Abdul Wahab et al, 2003;Ades et al, 1996;Al Fadley et al, 2000;Lees et al, 1969;Pletcher et al, 1996;Welch et al, 1971;Wessels et al, 2004].…”

Section: Introductionmentioning

confidence: 99%

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Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

et al. 2008

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Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease, characterized by widespread arterial involvement with elongation, tortuosity, and aneurysms of the large and middle-sized arteries. Recently, SLC2A10 mutations were identified in this condition. This gene encodes the glucose transporter GLUT10 and was previously suggested as a candidate gene for diabetes mellitus type 2. A total of 12 newly identified ATS families with 16 affected individuals were clinically and molecularly characterized. In addition, extensive cardiovascular imaging and glucose tolerance tests were performed in both patients and heterozygous carriers. All 16 patients harbor biallelic SLC2A10 mutations of which nine are novel (six missense, three truncating mutations, including a large deletion). Haplotype analysis suggests founder effects for all five recurrent mutations. Remarkably, patients were significantly older than those previously reported in the literature (P=0.04). Only one affected relative died, most likely of an unrelated cause. Although the natural history of ATS in this series was less severe than previously reported, it does indicate a risk for ischemic events. Two patients initially presented with stroke, respectively at age 8 months and 23 years. Tortuosity of the aorta or large arteries was invariably present. Two adult probands (aged 23 and 35 years) had aortic root dilation, seven patients had localized arterial stenoses, and five had long stenotic stretches of the aorta. Heterozygous carriers did not show any vascular anomalies. Glucose metabolism was normal in six patients and eight heterozygous individuals of five families. As such, overt diabetes is not related to SLC2A10 mutations associated with ATS.

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Section: Introductionmentioning

confidence: 99%

“…Histopathology of affected vessel walls indicates fragmentation of the inner elastic membrane and the elastic fibers of the tunica media of the large arteries [Ades et al, 1996;Beuren et al, 1969;Ertugrul, 1967;Franceschini et al, 2000;Lees et al, 1969;Pletcher et al, 1996;Rivera et al, 2000;Welch et al, 1971].…”

Section: Introductionmentioning

confidence: 99%

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

et al. 2008

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“…Arterial tortuosity syndrome (ATS; OMIM 208050) is a rare connective tissue disorder characterized by elongation and tortuosity of the greater and systemic arteries (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13). Affected individuals often display aneurysms, dilatation, stenosis, ventricular hypertrophy, elevated blood pressures, and pulmonary and systemic hypertensions.…”

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confidence: 99%

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

et al. 2008

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“…Arterial tortuosity syndrome (ATS), a rare connective tissue disorder, is characterized by elongation and tortuosity of arteries and associated complications that include aneurysm, dilatation, stenosis, ventricular hypertrophy, and elevated blood pressures, including pulmonary and systemic hypertensions (1)(2)(3)(4)(5)(6)(7)(8)(9)(10). In addition, affected individuals present with loose skin, laxity and hypermobility of joints, micrognathia, higharched palate, and elongated face, features that are typical of Ehlers-Danlos syndrome (EDS) (2)(3)(4)(5)(6)(7)(8)(9)(10). Occasionally, patients are also reported to display gastric and inguinal hernias and elongation of the intestines (2-4, 7, 9).…”

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confidence: 99%

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13

et al. 2004

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Arterial tortuosity associated with hyperextensible skin and hypermobility of joints, features that are characteristics of Ehlers-Danlos syndrome (EDS), has been described in several families. An arterial tortuosity locus has recently been mapped to chromosome 20q13. Here, we report a consanguineous Kurdish family in which an affected child manifested elongation and severe tortuosity of the aorta, carotid, and other arteries. Additional clinical symptoms include loose skin, hypermobile joints, hernias, and facial features that resemble EDS individuals. To examine whether the arterial tortuosity locus was involved in this child, homozygosity analysis was performed using microsatellite markers on 20q13. The affected child was found homozygous, whereas the unaffected parents and three siblings were heterozygous. Additional typing defined the genomic interval to a 37-cm region within which the arterial tortuosity locus is located. Three functional candidate genes (B4GALT5, KCNB1, and PTGIS) were sequenced. No mutations were discovered in the coding regions of these three genes and the promoter regions of B4GALT5 and KCNB1 genes. Moreover, the B4GALT5 mRNA expression was unaltered in patient-derived lymphoblastoid cells. In the PTGIS gene promoter, the affected child was homozygous for eight variable number of tandem repeats, while parents and unaffected siblings carried six repeats.

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Multiple arterial anomalies in the newborn infant. Echocardiographic and angiographic diagnosis

Cited by 17 publications

References 6 publications

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Arterial tortuosity syndrome: clinical and molecular findings in 12 newly identified families

Identification of a p.Ser81Arg encoding mutation in SLC2A10 gene of arterial tortuosity syndrome patients from 10 Qatari families

A family exhibiting arterial tortuosity syndrome displays homozygosity for markers in the arterial tortuosity locus at chromosome 20q13

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