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.

Prenatal ultrasound diagnosis of pulmonary atresia in combination with left atrial isomerism

2017 ◽  
Author(s):  
M Medvedev, M.V. Kubrina, O.S. Zarubina et all
Keyword(s):  
Left Atrial ◽  
Reverse Flow ◽  
Ductus Arteriosus ◽  
Pulmonary Atresia ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Right Atrial ◽  
Second Trimester ◽  
Left And Right ◽  
Atrial Isomerism

Two cases of prenatal ultrasound diagnosis of left atrial isomerism in the second trimester of gestation is presented. These two cases were in combination with pulmonary atresia and right aortic arch. Left atrial isomerism was identify by the digit-like shape of the left and right atrial appendages. The pulmonary atresia was identified on the basis of reverse flow in small pulmonary artery. A right aortic was identified by “U”-shaped confluence of aorta and ductus arteriosus in view of three vessels and trachea. The trachea was located between the vessels. The pregnancies were terminated and prenatal diagnosis was conformed at autopsy

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 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.

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.

The case of prenatal diagnosis of pilonidal cyst

2019 ◽  
Author(s):  
V.V. Ezhova
Keyword(s):  
Prenatal Diagnosis ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Pilonidal Cyst

The case of prenatal ultrasound diagnosis of pilonidal cyst at 25 weeks of gestation is presented. The diagnosis was confirmed after birth.

Experience of prenatal diagnosis of true knots of the umbilical cord during ultrasound examination in the third trimester of gestation

2019 ◽  
Author(s):  
M.Y. Morozova, V.V. Zotov, M.S. Kovalenko et all
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Ultrasound Examination ◽  
Technological Advance ◽  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Review Of The Literature ◽  
Third Trimester ◽  
The Third

Despite the rapid technological advance, the expansion of prenatal ultrasound diagnosis, as well as the accumulation of experience by both domestic and foreign experts, prenatal recognition of true knots of the umbilical cord causes significant difficulties. Three cases of successful ultrasound diagnosis of true knots of the umbilical cord and brief review of the literature are presented.

The case of prenatal ultrasound diagnosis of the fetal superior occipital encephalocele in the second trimester of gestation

2018 ◽  
Author(s):  
I.N. Daminov , S.F. Nasirova
Keyword(s):  
Prenatal Ultrasound ◽  
Ultrasound Diagnosis ◽  
Second Trimester ◽  
External Examination ◽  
Occipital Encephalocele

The case of prenatal ultrasound diagnosis of fetal superior occipital encephalocele at 19 weeks of gestation is presented. The pregnancy was terminated at 20 weeks of gestation. An external examination of the abortus confirmed the prenatal ultrasound diagnosis.

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