First antenatally confirmed case of arterial tortuosity syndrome

2020 ◽  
Vol 30 (11) ◽  
pp. 1738-1740
Author(s):  
Sakethram Saravu Vijayashankar ◽  
J. A. Gordon Culham ◽  
Shreya Moodley
Keyword(s):  
High Risk ◽  
Connective Tissue ◽  
Autosomal Recessive ◽  
Connective Tissue Disorder ◽  
Antenatal Screening ◽  
Arterial Tree ◽  
Arterial Tortuosity ◽  
First Case ◽  
Arterial Tortuosity Syndrome ◽  
Screening Ultrasound

AbstractArterial tortuosity syndrome (ATS) is a rare, autosomal recessive, connective tissue disorder. It predominantly involves the arterial tree with clinical features reflecting the systems involved. There have been few cases of ATS suspected during antenatal screening ultrasound in high-risk families, but none confirmed. We present the first case of ATS confirmed antenatally in the fetus with cascade testing, detecting the disease in the mother as well.

scholarly journals Arterial Tortuosity Syndrome

2021 ◽  
Author(s):  
PRIYADARSHINI ARUNAKUMAR ◽  
Varun Marimuthu ◽  
Usha MK ◽  
Jayaranganath M
Keyword(s):  
Left Ventricular Hypertrophy ◽  
Blood Vessels ◽  
Ventricular Hypertrophy ◽  
Autosomal Recessive ◽  
Left Ventricular ◽  
Arterial Tortuosity ◽  
Recessive Condition ◽  
Arterial Tortuosity Syndrome ◽  
Autosomal Recessive Condition ◽  
Asymptomatic Infant

A rare autosomal recessive condition, Arterial tortuosity syndrome (ATS) presents with ectactic blood vessels, cutaneous laxity, and bowel rupture. We report a case of an asymptomatic infant with arterial tortuosity syndrome who presented with left ventricular hypertrophy without any obvious obstruction to the outflow tract.

The RIN2 syndrome: a new autosomal recessive connective tissue disorder caused by deficiency of Ras and Rab interactor 2 (RIN2)

2010 ◽  
Vol 128 (1) ◽  
pp. 79-88 ◽  
Author(s):  
Delfien Syx ◽  
Fransiska Malfait ◽  
Lut Van Laer ◽  
Jan Hellemans ◽  
Trinh Hermanns-Lê ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Autosomal Recessive ◽  
Connective Tissue Disorder

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.

Thoracic Disc Herniation and Paraplegia in Stickler's Syndrome

Neurosurgery ◽  
1989 ◽  
Vol 24 (6) ◽  
pp. 909-912 ◽  
Author(s):  
H. L. Harkey ◽  
E. T. Cullom ◽  
A. D. Parent
Keyword(s):  
Connective Tissue ◽  
Vertebral Body ◽  
Disc Herniation ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Thoracic Disc Herniation ◽  
First Case ◽  
Epiphyseal Dysplasia ◽  
Thoracic Disc ◽  
Node Formation

ABSTRACT Stickler's syndrome, an autosomal dominant connective tissue disorder, is characterized by progressive ophthalmic, orofacial, and skeletal abnormalities. Epiphyseal dysplasia is seen in this syndrome and affects the spine, causing anterior vertebral body wedging and Schmorl's node formation. These spinal abnormalities are usually asymptomatic. We report here the first case of thoracic disc herniation and paraplegia associated with Stickler's syndrome.

scholarly journals Identification of three novel homozygous variants in COL9A3 causing autosomal-recessive Stickler Syndrome

2021 ◽  
Author(s):  
Aboulfazl Rad ◽  
Maryam Najafi ◽  
Fatemeh Suri ◽  
Soheila Abedini ◽  
Stephen Loum ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Molecular Genetics ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Connective Tissue Disorder ◽  
Stickler Syndrome ◽  
Loss Of Function ◽  
Pathogenic Variants ◽  
Autosomal Dominant Fashion

Abstract Background: Stickler syndrome (STL) is a rare, clinically and molecularly heterogeneous connective tissue disorder. Pathogenic variants occurring in a variety of genes cause STL, mainly inherited in an autosomal dominant fashion. Autosomal recessive STL is ultra-rare with only four families with biallelic COL9A3 variants reported to date. Results: Here, we report three unrelated families clinically diagnosed with STL carrying different novel biallelic loss of function variants in COL9A3. Further, we have collected COL9A3 genotype-phenotype associations from the literature. Conclusion: Our report substantially expands the molecular genetics and clinical basis of autosomal recessive STL and provides an overview about allelic COL9A3 disorders.

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 Transarterial coil embolization of an aortic root pseudoaneurym in a patient with Loeys-Dietz syndrome: a case report

2020 ◽  
Vol 3 (1) ◽  
Author(s):  
Robert D’Ortenzio ◽  
Leandro Cardarelli-Leite ◽  
Ravjot Dhatt ◽  
Jacqueline Saw ◽  
Manraj Heran
Keyword(s):  
High Risk ◽  
Connective Tissue ◽  
Aortic Root ◽  
Coil Embolization ◽  
Surgical Intervention ◽  
Connective Tissue Disorder ◽  
Case Presentation ◽  
Standard Management ◽  
Anastomotic Pseudoaneurysm ◽  
Arterial Aneurysms

Abstract Background Loeys-Dietz syndrome (LDS) is a rare autosomal-dominant connective tissue disorder characterized by arterial aneurysms and vascular friability. Surgical intervention for LDS patients carries significant morbidity and mortality. Currently, the standard management of aortic root pseudoaneurysms is surgical intervention. Case presentation A 20 year old male with LDS presented with a progressively enlarging ascending aortic aneurysm. He underwent a Bentall-type aortic root replacement complicated by a 20 mm aortic root anastomotic pseudoaneurysm. Due to the patient’s high risk for repeat surgical intervention, he underwent successful transarterial coil embolization of his aortic root pseudoaneurysm without complication. Conclusions Coil embolization may provide an alternative treatment for patients presenting with aortic root pseudoaneurysm who are high risk for traditional surgical treatment, such as those with connective tissue disease.

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