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Double aortic arch

MedGen UID:
488819
Concept ID:
C0265883
Congenital Abnormality
Synonyms: Aortic Arch, Double; Double Aortic Arch
SNOMED CT: Double aortic arch (10451007)
 
HPO: HP:0011590

Definition

A conenital abnormality of the aortic arch in which the two embryonic aortc arches form a vascular ring that surrounds the trachea or esophagus and then join to form the descending aorta. Double aortic arch can cause symptoms because of compression of the esophagus (dysphagia, cyanosis while eating) or trachea (stridor). [from HPO]

Conditions with this feature

Velocardiofacial syndrome
MedGen UID:
65085
Concept ID:
C0220704
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
Gaucher disease type II
MedGen UID:
78652
Concept ID:
C0268250
Disease or Syndrome
Gaucher disease (GD) encompasses a continuum of clinical findings from a perinatal lethal disorder to an asymptomatic type. The identification of three major clinical types (1, 2, and 3) and two other subtypes (perinatal-lethal and cardiovascular) is useful in determining prognosis and management. GD type 1 is characterized by the presence of clinical or radiographic evidence of bone disease (osteopenia, focal lytic or sclerotic lesions, and osteonecrosis), hepatosplenomegaly, anemia and thrombocytopenia, lung disease, and the absence of primary central nervous system disease. GD types 2 and 3 are characterized by the presence of primary neurologic disease; in the past, they were distinguished by age of onset and rate of disease progression, but these distinctions are not absolute. Disease with onset before age two years, limited psychomotor development, and a rapidly progressive course with death by age two to four years is classified as GD type 2. Individuals with GD type 3 may have onset before age two years, but often have a more slowly progressive course, with survival into the third or fourth decade. The perinatal-lethal form is associated with ichthyosiform or collodion skin abnormalities or with nonimmune hydrops fetalis. The cardiovascular form is characterized by calcification of the aortic and mitral valves, mild splenomegaly, corneal opacities, and supranuclear ophthalmoplegia. Cardiopulmonary complications have been described with all the clinical subtypes, although varying in frequency and severity.
TELO2-related intellectual disability-neurodevelopmental disorder
MedGen UID:
934745
Concept ID:
C4310778
Disease or Syndrome
A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of global developmental delay and intellectual disability, infantile hypotonia, microcephaly, movement disorder and impaired balance. Variable manifestations include hearing loss, cortical visual impairment, abnormalities of fingers and/or toes, congenital cardiac anomalies, kyphoscoliosis, dysmorphic facial features, abnormal sleep pattern and seizures.
Congenital heart defects, multiple types, 7
MedGen UID:
1714491
Concept ID:
C5394062
Congenital Abnormality
Multiple types of congenital heart defects-7 (CHTD7) is an autosomal dominant disorder with incomplete penetrance characterized mainly by tetralogy of Fallot but also including right-sided aortic arch, absent pulmonary valve, and other cardiac abnormalities (Jin et al., 2017, Reuter et al., 2019).
Heterotaxy, visceral, 12, autosomal
MedGen UID:
1803695
Concept ID:
C5676898
Congenital Abnormality
Visceral heterotaxy-12 (HTX12) is an embryonic developmental disorder characterized by defects in the asymmetric positioning of visceral organs across the left-right axis, known as laterality defects. The phenotype is highly variable, ranging from complete organ reversal (situs inversus totalis) to selective misarrangement of organs (situs ambiguus) such as the liver, spleen, and pancreas. The disorder is often associated with dextrocardia or variable complex congenital heart defects. Early death may occur in the most severe cases (summary by Szenker-Ravi et al., 2022). For a discussion of the genetic heterogeneity of visceral heterotaxy, see HTX1 (306955).

Professional guidelines

PubMed

Biermann D, Hazekamp MG
Eur J Cardiothorac Surg 2022 May 27;61(6):1269-1270. doi: 10.1093/ejcts/ezac007. PMID: 35024831
Aly S, Papneja K, Mawad W, Seed M, Jaeggi E, Yoo SJ
J Am Soc Echocardiogr 2022 Mar;35(3):312-321. Epub 2021 Sep 29 doi: 10.1016/j.echo.2021.09.010. PMID: 34600045
Zmora O, Beloosesky R, Khatib N, Ginsberg Y, Khoury A, Bronshtein M
Ultraschall Med 2021 Oct;42(5):529-532. Epub 2020 Apr 17 doi: 10.1055/a-1132-5402. PMID: 32303091

Recent clinical studies

Etiology

Bornaun H, Süzen Çaypınar S, Gedik Özköse Z, Topbaş NF, Behram M
J Ultrasound Med 2021 Dec;40(12):2721-2726. Epub 2021 Mar 3 doi: 10.1002/jum.15669. PMID: 33656187
Vigneswaran TV, Jabak S, Syngelaki A, Charakida M, Simpson JM, Nicolaides KH, Zidere V
J Matern Fetal Neonatal Med 2021 Sep;34(18):2985-2990. Epub 2019 Oct 16 doi: 10.1080/14767058.2019.1676413. PMID: 31578117
Yoshimura N, Fukahara K, Yamashita A, Doi T, Yamashita S, Homma T, Yokoyama S, Aoki M, Higashida A, Shimada Y, Toritsuka D, Nagao K, Ikeno Y
Surg Today 2020 Oct;50(10):1151-1158. Epub 2019 Nov 1 doi: 10.1007/s00595-019-01907-5. PMID: 31676999
Yang Y, Jin X, Pan Z, Li Y, Wu C
J Cardiothorac Surg 2019 Sep 9;14(1):160. doi: 10.1186/s13019-019-0976-x. PMID: 31500640Free PMC Article
Backer CL, Bharadwaj SN, Eltayeb OM, Forbess JM, Popescu AR, Mongé MC
Ann Thorac Surg 2019 Jul;108(1):161-166. Epub 2019 Mar 5 doi: 10.1016/j.athoracsur.2019.01.062. PMID: 30849335

Diagnosis

Ruiz-Solano E, Mitchell M
Curr Cardiol Rep 2022 Oct;24(10):1495-1503. Epub 2022 Oct 3 doi: 10.1007/s11886-022-01764-8. PMID: 36190599Free PMC Article
Worhunsky DJ, Levy BE, Stephens EH, Backer CL
Semin Pediatr Surg 2021 Dec;30(6):151128. Epub 2021 Oct 23 doi: 10.1016/j.sempedsurg.2021.151128. PMID: 34930596
Yoshimura N, Fukahara K, Yamashita A, Doi T, Yamashita S, Homma T, Yokoyama S, Aoki M, Higashida A, Shimada Y, Toritsuka D, Nagao K, Ikeno Y
Surg Today 2020 Oct;50(10):1151-1158. Epub 2019 Nov 1 doi: 10.1007/s00595-019-01907-5. PMID: 31676999
Hanneman K, Newman B, Chan F
Radiographics 2017 Jan-Feb;37(1):32-51. Epub 2016 Nov 18 doi: 10.1148/rg.2017160033. PMID: 27860551
Backer CL, Mongé MC, Popescu AR, Eltayeb OM, Rastatter JC, Rigsby CK
Semin Pediatr Surg 2016 Jun;25(3):165-75. Epub 2016 Feb 22 doi: 10.1053/j.sempedsurg.2016.02.009. PMID: 27301603

Therapy

Farje D, Young A, Stein E, Eltayeb OM, Ghadersohi S, Hazkani I
Am J Otolaryngol 2024 Mar-Apr;45(2):104147. Epub 2023 Dec 8 doi: 10.1016/j.amjoto.2023.104147. PMID: 38101126
Rato J, Zidere V, François K, Boon M, Depypere A, Simpson JM, Speggiorin S, Vigneswaran TV
J Pediatr Surg 2023 Sep;58(9):1744-1753. Epub 2023 Feb 28 doi: 10.1016/j.jpedsurg.2023.02.058. PMID: 36967253
Nir V, Bentur L, Zucker-Toledano M, Gur M, Adler Z, Hanna M, Toukan Y, Masarweh K, Hakim F, Bar-Yoseph R
Pediatr Pulmonol 2022 Dec;57(12):2946-2953. Epub 2022 Sep 14 doi: 10.1002/ppul.26112. PMID: 35971243
Liu Y, Wang N, Liu Y, Wen P
Eur Heart J 2022 Aug 7;43(30):2904. doi: 10.1093/eurheartj/ehac317. PMID: 35706379
de Benedictis FM, de Benedictis D, Mirabile L, Pozzi M, Guerrieri A, Di Pillo S
Pediatr Allergy Immunol 2015 Sep;26(6):490-6. doi: 10.1111/pai.12421. PMID: 26059018

Prognosis

Ruiz-Solano E, Mitchell M
Curr Cardiol Rep 2022 Oct;24(10):1495-1503. Epub 2022 Oct 3 doi: 10.1007/s11886-022-01764-8. PMID: 36190599Free PMC Article
Van Poppel MPM, Zidere V, Simpson JM, Vigneswaran TV
Prenat Diagn 2022 Apr;42(4):419-427. Epub 2022 Jan 28 doi: 10.1002/pd.6104. PMID: 35060138
Vigneswaran TV, Jabak S, Syngelaki A, Charakida M, Simpson JM, Nicolaides KH, Zidere V
J Matern Fetal Neonatal Med 2021 Sep;34(18):2985-2990. Epub 2019 Oct 16 doi: 10.1080/14767058.2019.1676413. PMID: 31578117
Li S, Wen H, Liang M, Luo D, Qin Y, Liao Y, Ouyang S, Bi J, Tian X, Norwitz ER, Luo G
Cardiovasc Pathol 2019 Mar-Apr;39:38-50. Epub 2018 Dec 6 doi: 10.1016/j.carpath.2018.11.004. PMID: 30623879
Hanneman K, Newman B, Chan F
Radiographics 2017 Jan-Feb;37(1):32-51. Epub 2016 Nov 18 doi: 10.1148/rg.2017160033. PMID: 27860551

Clinical prediction guides

Avnioglu S, Dikici R, Etli M
Int J Cardiovasc Imaging 2022 Oct;38(10):2263-2268. Epub 2022 Jun 27 doi: 10.1007/s10554-022-02675-z. PMID: 37726466
Van Poppel MPM, Zidere V, Simpson JM, Vigneswaran TV
Prenat Diagn 2022 Apr;42(4):419-427. Epub 2022 Jan 28 doi: 10.1002/pd.6104. PMID: 35060138
Vigneswaran TV, Van Poppel MP, Griffiths B, James P, Jogeesvaran H, Rahim Z, Simpson JM, Speggiorin S, Zidere V, Nyman A
Arch Dis Child 2021 Jun;106(6):564-569. Epub 2020 Oct 28 doi: 10.1136/archdischild-2020-318946. PMID: 33115711
Yerlikaya G, Efetürk T, Springer S, Reischer T
Arch Gynecol Obstet 2019 Apr;299(4):933-938. Epub 2019 Jan 31 doi: 10.1007/s00404-019-05056-5. PMID: 30706183Free PMC Article
Li S, Wen H, Liang M, Luo D, Qin Y, Liao Y, Ouyang S, Bi J, Tian X, Norwitz ER, Luo G
Cardiovasc Pathol 2019 Mar-Apr;39:38-50. Epub 2018 Dec 6 doi: 10.1016/j.carpath.2018.11.004. PMID: 30623879

Recent systematic reviews

Rato J, Zidere V, François K, Boon M, Depypere A, Simpson JM, Speggiorin S, Vigneswaran TV
J Pediatr Surg 2023 Sep;58(9):1744-1753. Epub 2023 Feb 28 doi: 10.1016/j.jpedsurg.2023.02.058. PMID: 36967253

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