Arterial tortuosity syndrome: a late and unexpected diagnosis and description of a novel likely pathogenic mutation

Rodríguez-Capitán, Jorge; Macías-Benítez, Manuel; Conejo-Muñoz, Lourdes; Cordero-Aguilar, Antonio; López-Salguero, Raúl; Pérez-Villardón, Beatriz

doi:10.1016/j.rec.2019.10.010

Cited by 3 publications

(3 citation statements)

References 4 publications

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“…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][6][7], and prenatal/antenatal cases of ATS have also been reported [8].…”

Section: Introductionmentioning

confidence: 99%

“…Patients with ATS exhibit an array of symptoms, or in very rare cases, they may appear without visible symptoms [ 2 , 3 , 5 ]. In the majority of patients with ATS, there is a high incidence of vascular issues, such as severe ventricular hypertrophy and valvular regurgitation, and in rare cases, atrial fibrillation has also been reported [ 6 , 9 ]. Vascular dissection, distortion, and stenoses of the pulmonary artery branches leading to systemic ventricular pressure, the presence of an aneurysm (abnormal bulging), and, in rare cases, aneurysmal dilation of the major intracranial arteries have also been reported [ 2 , 3 , 5 ].…”

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: Introductionmentioning

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

View full text Add to dashboard Cite

show abstract

“…(577)(578) Los tumores primarios son infrecuentes. Entre ellos se encuentran: a) benignos: Las metástasis se evidencian en el momento del diagnóstico del tumor primario y pueden ser óseas, cutáneas, hepáticas, esplénicas, pulmonares y renales (580)(581)(582). Pueden producir una disección, estenosis u oclusión de la aorta.…”

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2023

Rev Argent Cardiol

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

Alshair,

Alsulami,

Shihata

et al. 2024

J Cardiothorac Surg

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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.

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Arterial tortuosity syndrome: a late and unexpected diagnosis and description of a novel likely pathogenic mutation

Cited by 3 publications

References 4 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

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

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