scholarly journals Clinical variability in two Macedonian families with Arterial tortuosity syndrome

2018 ◽  
Vol 21 (1) ◽  
pp. 47-52
Author(s):  
M Kocova ◽  
R Kacarska ◽  
K Kuzevska-Maneva ◽  
S Prijic ◽  
M Lazareska ◽  
...  
Keyword(s):  
Cerebral Arteries ◽  
Pulmonary Arteries ◽  
Physical Appearance ◽  
Autosomal Recessive Disorder ◽  
Joint Laxity ◽  
The Body ◽  
Gene Encoding ◽  
Arterial Tortuosity ◽  
Long Term Follow Up ◽  
Arterial Tortuosity Syndrome

Abstract Arterial tortuosity syndrome (ATS) is a rare autosomal recessive disorder caused by mutations in the solute carrier family 2 member 10 (SLC2A10) gene encoding a glucose/ascorbic acid transporter. The clinical features of ATS are mild-to-severe tortuosity of the large and medium arteries throughout the body, accompanied by dysmorphisms and joint laxity. Vascular changes in different parts of the body lead to stenosis and/or aneurysms requiring difficult surgical procedures. Here we present two new patients with ATS from two unrelated families. Patient 1 presented at 10 years of age with headache and typical physical appearance, delicate skeleton, large visible pulsation of the carotid arteries in the neck, and joint laxity. On computed tomography (CT) angiography she had severe tortuosity of the aortal branches and cerebral arteries, but no significant tortuosity of the pulmonary arteries. Two cousins of the girl carried the same homozygous c.254T>C, p.(Leu85Pro) mutation in SLC2A10, however, they additionally had a severe involvement of the pulmonary vessels. Patient 2 was a 9-year-old girl diagnosed with severe tortuosity and stenosis of the pulmonary arteries and progressive myocardiopathy. Her physical appearance was very similar to Patient 1, except that she also had growth retardation. After long-term follow-up by cardiologists, she underwent cardiac surgery abroad, with an unfavorable outcome. Homozygosity for the c.685C>T, p.(Arg229*) mutation in the SLC2A10 gene was detected. Consanguinity was disclosed within both families. Our findings confirm the intrafamilial phenotype variability of ATS. A novel finding is the severe tortuosity of cerebral arteries causing migraine that has not been described before in a child with ATS.

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

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Meiling Liang ◽  
Huaxuan Wen ◽  
Shengli Li
Keyword(s):  
Genetic Disorders ◽  
Ductus Arteriosus ◽  
Pulmonary Arteries ◽  
Connective Tissue Disorder ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Elastic Fibers ◽  
Arterial Tortuosity ◽  
Computed Tomography Images ◽  
Arterial Tortuosity Syndrome

Abstract 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.

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

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Stefano Cotti Piccinelli ◽  
Enrico Premi ◽  
Sonia Bonacina ◽  
Nicola Gilberti ◽  
Veronica Vergani ◽  
...  
Keyword(s):  
Magnetic Resonance ◽  
Plasminogen Activator ◽  
Brain Magnetic Resonance Imaging ◽  
Intravenous Thrombolysis ◽  
Autosomal Recessive Disorder ◽  
Extensive Study ◽  
Transient Ischemic Attacks ◽  
Arterial Tortuosity ◽  
Cerebrovascular Events ◽  
Arterial Tortuosity Syndrome

Abstract 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.

Dealing with kinked and swirled pulmonary vessels: surgical treatment of arterial tortuosity syndrome: a case report

2020 ◽  
Vol 30 (12) ◽  
pp. 1960-1963
Author(s):  
G. Ricciardi ◽  
V. Sojak ◽  
M. G. Hazekamp
Keyword(s):  
Case Report ◽  
Surgical Treatment ◽  
Surgical Technique ◽  
Pulmonary Arteries ◽  
Pulmonary Vessels ◽  
Arterial Tortuosity ◽  
Arterial Tortuosity Syndrome ◽  
Operative Findings

AbstractWe present the case of a child with arterial tortuosity syndrome, describing the operative findings and our surgical technique to address pulmonary arteries stenosis.

Severe Arterial Tortuosity

2016 ◽  
Vol 8 (2) ◽  
pp. 231-234 ◽  
Author(s):  
Alain Cubero ◽  
Javier Ayala ◽  
Gadah Hamzeh ◽  
Andrés Cortes ◽  
June Udaondo ◽  
...  
Keyword(s):  
Aortic Arch ◽  
Autosomal Recessive ◽  
Surgical Repair ◽  
Pulmonary Arteries ◽  
Pericardial Patch ◽  
Descending Aorta ◽  
Arterial Tortuosity ◽  
The Third ◽  
Bovine Pericardial Patch ◽  
Arterial Tortuosity Syndrome

Arterial tortuosity syndrome is a rare autosomal recessive connective tissue disease characterized by elongation, tortuosity, and aneurysmal formation of the large and middle-sized arteries sometimes associated with stenosis of the pulmonary arteries and/or aorta. We present three cases of severe arterial tortuosity with different manifestations. In two cases, the aortic arch was involved. Angiography showed a very tortuous aortic arch, with many loops and twists and a normal descending aorta. One required operation. The third case presented multiple severe stenoses of both pulmonary arteries with many tortuous segments. Surgical repair consisted of pulmonary artery augmentation utilizing a bovine pericardial patch from hilum to hilum.

scholarly journals Novel mutations in the WFS1 gene are associated with Wolfram syndrome and systemic inflammation

2021 ◽  
Author(s):  
Eleonora Panfili ◽  
Giada Mondanelli ◽  
Ciriana Orabona ◽  
Maria L Belladonna ◽  
Marco Gargaro ◽  
...  
Keyword(s):  
Er Stress ◽  
Mononuclear Cells ◽  
Autosomal Recessive Disorder ◽  
Wolfram Syndrome ◽  
Therapeutic Interventions ◽  
T Helper 17 ◽  
Gene Encoding ◽  
Peripheral Blood Mononuclear ◽  
Inflammatory State ◽  
Wfs1 Gene

Abstract Mutations in the WFS1 gene, encoding wolframin (WFS1), cause endoplasmic reticulum (ER) stress and are associated with a rare autosomal-recessive disorder known as Wolfram syndrome (WS). WS is clinically characterized by childhood-onset diabetes mellitus, optic atrophy, deafness, diabetes insipidus and neurological signs. We identified two novel WFS1 mutations in a patient with WS, namely, c.316-1G > A (in intron 3) and c.757A > T (in exon 7). Both mutations, located in the N-terminal region of the protein, were predicted to generate a truncated and inactive form of WFS1. We found that although the WFS1 protein was not expressed in peripheral blood mononuclear cells (PBMCs) of the proband, no constitutive ER stress activation could be detected in those cells. In contrast, WS proband’s PBMCs produced very high levels of proinflammatory cytokines (i.e. TNF-α, IL-1β, and IL-6) in the absence of any stimulus. WFS1 silencing in PBMCs from control subjects by means of small RNA interference also induced a pronounced proinflammatory cytokine profile. The same cytokines were also significantly higher in sera from the WS patient as compared to matched healthy controls. Moreover, the chronic inflammatory state was associated with a dominance of proinflammatory T helper 17 (Th17)-type cells over regulatory T (Treg) lymphocytes in the WS PBMCs. The identification of a state of systemic chronic inflammation associated with WFS1 deficiency may pave the way to innovative and personalized therapeutic interventions in WS.

scholarly journals Low-dose CT angiography for evaluation of great vessels and airway in arterial tortuosity syndrome

2012 ◽  
Vol 13 (12) ◽  
pp. 1054-1054 ◽  
Author(s):  
M. Alkuwari ◽  
R. Y. Kamal ◽  
S. Shelby ◽  
S. T. Maliyekkal ◽  
S. Kutty
Keyword(s):  
Ct Angiography ◽  
Low Dose ◽  
Arterial Tortuosity ◽  
Low Dose Ct ◽  
Great Vessels ◽  
Arterial Tortuosity Syndrome

scholarly journals Factors affecting the course of body and kidney growth in infants with urolithiasis: A critical long-term evaluation

2016 ◽  
Vol 88 (4) ◽  
pp. 249 ◽  
Author(s):  
Kemal Sarica ◽  
Fatma Narter ◽  
Kubilay Sabuncu ◽  
Ahmet Akca ◽  
Utku Can ◽  
...  
Keyword(s):  
Breast Feeding ◽  
Clinical Course ◽  
Stone Disease ◽  
The Body ◽  
Renal Growth ◽  
Related Factors ◽  
Growth Status ◽  
Long Term Follow Up

Objective: To investigate the possible effects of dietary, patient and stone related factors on the clinical course of the stone disease as well as the body and renal growth status of the infants. Patients and Methods: A total of 50 children with an history of stone disease during infancy period were studied. Patient (anatomical abnormalities, urinary tract infection - UTI, associated morbidities), stone (obstruction, UTI and required interventions) and lastly dietary (duration of sole breast feeding, formula feeding) related factors which may affect the clinical course of the disease were all evaluated for their effects on the body and renal growth during long-term follow-up. Results: Mean age of the children was 2.40 ± 2.65 years. Our findings demonstrated that infants receiving longer period of breast feeding without formula addition seemed to have a higher rate of normal growth percentile values when compared with the other children. Again, higher frequency of UTI and stone attacks affected the growth status of the infants in a remarkable manner than the other cases. Our findings also demonstrated that thorough a close follow-up and appropriately taken measures; the possible growth retardation as well as renal growth problems could be avoided in children beginning to suffer from stone disease during infancy period. Conclusions: Duration of breast feeding, frequency of UTI, number of stone attacks and stone removal procedures are crucial factors for the clinical course of stone disease in infants that may affect the body as well as kidney growth during long-term follow-up.

Patients with Pain During Pregnancy

2016 ◽  
Author(s):  
Charles J. Fox ◽  
Alan D. Kaye ◽  
Elyse Cornett ◽  
Katherine Stammen ◽  
Michael Franklin
Keyword(s):  
Abdominal Pain ◽  
Back Pain ◽  
Pregnant Women ◽  
Pelvic Pain ◽  
Joint Laxity ◽  
The Body ◽  
Healthy Pregnancy ◽  
Pain Analgesics ◽  
Chronic Severe Pain ◽  
Anxiety Depression

Most women experience some degree of pain during pregnancy. Back pain occurs in about half of all pregnant women, with pain typically in the low back due to the physiologic changes in the body that occur with pregnancy, such as weight gain, changed center of gravity, increased ligament and joint laxity, and altered posture. Pelvic pain, leg cramps, and abdominal pain are all common among pregnant women. Many women who have pain during pregnancy are reluctant to use analgesics due to concerns about what the medications may do to their unborn child. Because of this, it is hypothesized that many women are either undertreated for pain or do not receive any treatment. Chronic, severe pain that is ineffectively treated is associated with hypertension, anxiety, and depression, all of which do not lead to a healthy pregnancy. A variety of interventional procedures are commonly performed during pregnancy that can safely alleviate pain. This review goes into detail about the types of pain treatments that are available to pregnant women and are safe and effective in alleviating pregnancy-related pain. Keywords: Pelvic pain, leg cramps, abdominal pain, hypertension, anxiety, depression, joint laxity, ligament laxity, back pain, analgesics, pregnancy

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