Prenatal diagnosis of isolation of aortic brachiocephalic artery

2021 ◽  
pp. 028418512110582
Author(s):  
Xiao-yan Hao ◽  
Ye Zhang ◽  
Ying Zhao ◽  
Xiaowei Liu ◽  
Xiaoyan Gu ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Aortic Arch ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Cardiac Anomaly ◽  
Brachiocephalic Artery ◽  
Aortic Arch Anomaly ◽  
Number Variation ◽  
Coronal Section ◽  
The Right

Background Isolated aortic brachiocephalic artery (IABA) is a rare congenital aortic arch anomaly. It is difficult to diagnose IABA prenatally and the prevalence in the prenatal population is unknown. Purpose To evaluate the echocardiographic characteristics and associations in fetuses with IABA. Material and Methods We retrospectively analyzed all cases of prenatal diagnosis of IABA from January 2012 to November 2020 and reviewed the follow-up results. Copy Number Variation Sequencing (CNV-Seq) was performed using the biological specimens of the of the fetuses and family members. Results Ten cases (10/45652, 0.022%) of IABA were identified in our center. The prevalence of the cases with isolated left subclavian artery (ILSCA) in the right aortic arch (RAA) population was 0.98% (6/613). The ILSCA was the most common isolated arch branch. All the isolated branches were on the opposite side of aortic arch in all the cases. The “ice stick” sign in the coronal section could be seen in most cases of IABA. Of the 10 cases, 8 (8/10, 80%) were associated with tetralogy of Fallot (TOF). Two cases of IABA were combined with 22q11.2 deletion syndrome. Conclusion IABA is a rare aortic anomaly. ILSCA was the most common isolated arch branch and TOF was the most common associated intra-cardiac anomaly. The “ice stick” sign in the coronal section could indicate a diagnosis of the IABA.

The first experience of prenatal successful diagnosis of 22q11.2 deletion syndrome

2019 ◽  
Author(s):  
I.V. Komarova, A.A. Nikiforenko, E.F. Khmeleva et all
Keyword(s):  
Heart Disease ◽  
Prenatal Diagnosis ◽  
Aortic Arch ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
First Case ◽  
Cardiovascular Defects ◽  
Aortic Arch Interruption

Two cases of prenatal diagnosis of a deletion syndrome 22q11.2 are presented. They are includes the cardiovascular defects in combination with hypoplasia of the thymus. In first case the pregnancy was aborted due to the heart disease, adverse for life (aortic arch interruption). In second case (right aorta arch and left aberrant subclavial artery) the pregnancy was prolonged, the chromosomal pathology was diagnosed at the age of 3 months. Modern data on clinic, diagnosis and outcome of a syndrome at the fetus, children and adults are analyzed. The possibility of the aim prenatal diagnosis of syndrome on the basis of the characteristic conotruncal abnormalities in combination with hypoplasia of thymus is presented.

Conotruncal heart defects and aortic arch anomalies in fetuses with 22q11.2 deletion syndrome

2020 ◽  
Author(s):  
I.V. Novikova, O.M. Khurs, T.V. Demidovich et all
Keyword(s):  
Aortic Arch ◽  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Ventricular Outflow Tract ◽  
Double Outlet Right Ventricle ◽  
Interrupted Aortic Arch ◽  
Left Ventricular ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Aortic Arch Anomalies

16 second trimester fetuses with 22q11.2 deletion syndrome have been examined at anatomic-pathological investigation. Main cardiovascular diseases were ascending aorta hypoplasia with aortic valve stenosis (n = 6; 37.5%), truncus arteriosus (n = 5; 31.25%), tetralogy of Fallot (n = 3; 18.75%) and double-outlet right ventricle (n = 1; 6.25%). Ventricular septal defect was present in 16 cases. Associated aortic arch anomalies included interrupted aortic arch (n = 9; 56.25%), right aortic arch (n = 6; 37.5%), retroesophageal ring (n = 1; 6.25%) and aberrant right subclavian arteria (n = 5; 31.25%). 5 fetuses had left ventricular outflow tract obstructive lesions with interrupted aortic arch of type B combined with aberrant right subclavian arteria.

scholarly journals 22q11.2 deletion syndrome: 20 years of experience from two pediatric immunology units and review of clues for diagnosis and disease management

2021 ◽  
Vol 49 (1) ◽  
pp. 95-100
Author(s):  
Selime Ozen ◽  
Omer Akcal ◽  
Ilke Taskirdi ◽  
Idil Akay Haci ◽  
Neslihan Edeer Karaca ◽  
...  
Keyword(s):  
T Cell ◽  
Cell Subset ◽  
Case Series ◽  
22Q11.2 Deletion Syndrome ◽  
Deletion Syndrome ◽  
Cardiac Anomaly ◽  
Recurrent Infections ◽  
Speech Impairment ◽  
22Q11.2 Deletion ◽  
T Cell Subset

Introduction and objectives: The purpose of this study was to evaluate patients diagnosed with 22q11.2 deletion syndrome and determine the clues directing to diagnosis and evaluation of immunological findings for excellent management of the disease. Material and methods: Thirty-three pediatric patients with 22q11.2 deletion syndrome diag-nosed between 1998 and 2019 at Pediatric Immunology Division of Ege University Faculty of Medicine and SBU Izmir Dr Behcet Uz Children’s Education and Research Hospital were evaluated. Results: This study includes the largest case series reported from Turkey. Congenital car-diac anomalies were the most common pathology associated with the syndrome (90.9%). Hypocalcemic symptoms were observed in 13 patients (40%). Twenty-two of the 33 (66.6%) patients were diagnosed before two years of age. Autoimmune diseases, dysmorphic facial findings, recurrent infections, growth retardation, and speech impairment were other clues for diagnosis in older patients. Clinical spectrum and immunological abnormalities of this syn-drome are quite variable. All T-cell subset counts were less than 5th percentile below median by age in one patient (3%) and 10 patients had normal all T-cell subset counts (30.3%). Overall, 69.6% of the patients had normal IgG, IgA, and IgM levels and two patients had panhypogam-maglobulinemia. Recurrent infections were revealed in 75.7% of the patients during follow-up. Conclusions: Presence of cardiac anomaly is more helpful in the diagnosis, especially under two years of age. Patients with immunologically high or standard risk did not show any differ-ence in terms of numbers and severity of infections and autoimmunity.

scholarly journals Collateral Arteries of the Aortic Arch in Mongolian Gerbil (Meriones unguiculatus)

2018 ◽  
Vol 46 (1) ◽  
pp. 8
Author(s):  
Radan Elvis Matias de Oliveira ◽  
Hélio Norberto De Araújo Júnior ◽  
Herson Da Silva Costa ◽  
Gleidson Benevides De Oliveira ◽  
Carlos Eduardo Bezerra De Moura ◽  
...  
Keyword(s):  
Aortic Arch ◽  
Subclavian Artery ◽  
Carotid Arteries ◽  
Left Subclavian Artery ◽  
Meriones Unguiculatus ◽  
Brachiocephalic Artery ◽  
Collateral Arteries ◽  
Brachiocephalic Trunk ◽  
The Right ◽  
Common Carotid Arteries

Background: Gerbils (Meriones unguiculatus) are rodents belonging to the Muridae family. Recently, breeding of this species as pets has increased significantly. Animal models are being investigated to study diseases related to the human aortic arch. Despite the importance of the aortic arch in maintaining homeostasis, there is limited data available regarding its morphology in gerbils. This study was performed with the objective of describing the collateral branches of the aortic arch in this animal to establish a standard model and thus contribute to future research on cardiovascular diseases in humans.Materials, Methods & Results: This study used 20 male specimens from previous studies that were frozen and stored at the Laboratory of Veterinary Anatomy of the Federal Rural University of the Semi-Arid Region. After thawing the animals, the thoracic cavity was opened for aortic cannulation. The vascular system was washed using saline solution and Neoprene latex stained with red pigment was injected. Subsequently, the animals were fixed in 10% formaldehyde and were dissected and analyzed 72 h later. The arrangement of the collateral branches of the aortic arch in gerbils was analyzed in all animals. The brachiocephalic trunk, the left common carotid, and the left subclavian artery were observed to originate as collateral branches. The brachiocephalic trunk bifurcated into the right common carotid and the right subclavian arteries. The right and the left subclavian arteries branched into the vertebral artery, the internal thoracic artery, the superficial cervical artery, the costocervical trunk, and the axillary artery.Discussion: Several studies reported in the literature describe the collateral branches of the aortic arch in domestic and wild mammalian species. These studies examined the main arteries that originate directly from the aortic arch and their respective branches, and classified the different anatomical variants of the aortic arch in each species. Three different arrangements have been commonly described. The first type corresponds only to the brachiocephalic artery originating from the aortic arch. The right and the left common carotid arteries and the right and the left subclavian arteries originate from this brachiocephalic artery. This type has already been described in the laboratory rat, catingueiro-deer, cattle, and horses. The second type is characterized by the presence of 2 arteries - the brachiocephalic trunk and the left subclavian artery. The right and the left common carotid arteries and the right subclavian artery originate from the brachiocephalic trunk. This arrangement has been reported in most species already studied such as rodents including the paca, chinchilla, guinea pig, mocó, nutria and the preá. The third type of vascular arrangement is observed in the gerbil. In this species, 3 collateral arteries originate from the aortic arch (the brachiocephalic trunk, the left common carotid, and the left subclavian artery). The right common carotid and the right subclavian artery originate from the brachiocephalic trunk. This vascular model has been described in the manatee, in humans, mice, sauim, and the monkey-nail. Thus, we concluded that the branching pattern of the aortic arch of the gerbil was characterized by the brachiocephalic trunk, the left common carotid, and the left subclavian artery, as has been described in mice, the manatee, monkey-nail, sauim, and humans. Based on these morphological characteristics, gerbils could serve as potential experimental models to study diseases related to the human aortic arch.

Pulmonary atresia with intact ventricular septum: a multicenter analysis of 21 prenatal diagnosis cases

2017 ◽  
Author(s):  
M.V. Medvedev , M.V. Kubrina , O.L. Galkina et all
Keyword(s):  
Prenatal Diagnosis ◽  
Aortic Arch ◽  
Tricuspid Valve ◽  
Pulmonary Atresia ◽  
Ventricular Septum ◽  
Right Atrial ◽  
Intact Ventricular Septum ◽  
Multicenter Analysis ◽  
The Right ◽  
Atrial Isomerism

A retrospective analysis of 21 cases of prenatal diagnosed of pulmonary atresia with intact ventricular septum (PA-IVS) is presented. In the study of the four chambers view of the fetal heart the right ventricle was hypoplastic in 16 (76.1 %), normal in 5 (23.8 %) cases. Tricuspid atresia identified in 8 (38 %) cases. The dysplasia of the tricuspid valve identified in 5 (23.8 %) cases. In 2 (8.7 %) cases PA-IVS were in combination with atrioventricular defects. The changes of the tricuspid valve were not identified in 6 (28.5 %) cases. In 100 % cases reduced pulmonary artery with retrograde flow in the pulmonary valve was registrated. Hydrops fetal is detected in 2 (9.5 %) cases. The left aortic arch was in 17 (80.9 %) cases and right aortic arch – 4 (19.1 %). The average gestational age at prenatal diagnosis was 22,6 weeks (range 11–32 weeks). Early diagnosis is represented by one case in 11 weeks. Cardiac defects were registered in 6 (28.5 %) cases and extracardiac defects in 5 (23.8 %) cases. Ventriculocoronary arterial communications were found in 2 (9.5 %) cases of PA-IVS. In 3 (13 %) cases were in combination with heterotaxy syndrome. In 2 (8.7 %) cases PA-IVS were in combination with left atrial isomerism and 1 (4.8 %) with right atrial isomerism. Outcomes in fetuses with PA-IVC: termination of pregnancy — 13 (61.9 %), fetal death — 2 (9.5 %), neonatal death — 5 (23.8 %) cases, only 1 (4.8 %) survivor.

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