Hostname: page-component-848d4c4894-xfwgj Total loading time: 0 Render date: 2024-06-17T18:03:10.687Z Has data issue: false hasContentIssue false
  • English
  • Français

Cardiac anomalies in Axenfeld–Rieger syndrome

Published online by Cambridge University Press:  22 December 2022

Nishma Valikodath Open the ORCID record for Nishma Valikodath [Opens in a new window] ,
James A. Johns  and
Justin Godown
Nishma Valikodath*
Affiliation:
Department of Pediatrics, Monroe Carell Jr. Children’s Hospital at Vanderbilt, Nashville, USA
James A. Johns
Affiliation:
Division of Pediatric Cardiology, Monroe Carell Jr. Children’s Hospital at Vanderbilt, Nashville, USA
Justin Godown
Affiliation:
Division of Pediatric Cardiology, Monroe Carell Jr. Children’s Hospital at Vanderbilt, Nashville, USA
*
Author for correspondence: Nishma Valikodath, Department of Pediatrics, Monroe Carell Jr. Children’s Hospital, 2200 Children’s Way, DOT 8161, Nashville, TN 37232, USA. Tel: +1 615 936 2555. E-mail: nishma.valikodath@vumc.org
Get access Rights & Permissions [Opens in a new window]

Abstract

Axenfeld–Rieger syndrome is a rare multi-system disorder associated with cardiac anomalies. All patients with a diagnosis of Axenfeld–Rieger syndrome were identified from our electronic medical record. Chart review was performed to document the presence and types of CHD. Out of 58 patients, 14 (24.1%) had CHD and a wide variety of cardiac lesions were identified.

Keywords

Axenfeld–Rieger syndromeCHDglaucoma
Type
Brief Report
Information
Cardiology in the Young , Volume 33 , Issue 7 , July 2023 , pp. 1229 - 1231
Check for updates
Copyright
© The Author(s), 2022. Published by Cambridge University Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Seifi, M, Walter, MA. Axenfeld-Rieger syndrome. Clin Genet 2018; 93: 1123–1130.10.1111/cge.13148CrossRefGoogle ScholarPubMed
French, CR. Mechanistic insights into Axenfeld-Rieger syndrome from zebrafish foxc1 and pitx2 mutants. Int J Mol Sci 2021; 22: 22.CrossRefGoogle ScholarPubMed
Balikov, DA, Jacobson, A, Prasov, L. Glaucoma syndromes: insights into glaucoma genetics and pathogenesis from monogenic syndromic disorders. Genes (Basel) 2021; 12: 12.CrossRefGoogle ScholarPubMed
Zhang, Q, Liang, D, Yue, Y, et al. Axenfeld-Rieger syndrome-associated mutants of the transcription factor FOXC1 abnormally regulate NKX2-5 in model zebrafish embryos. J Biol Chem 2020; 295: 11902–11913.CrossRefGoogle ScholarPubMed
Du, RF, Huang, H, Fan, LL, Li, XP, Xia, K, Xiang, R. A novel mutation of FOXC1 (R127L) in an Axenfeld-Rieger syndrome family with glaucoma and multiple congenital heart diseases. Ophthalmic Genet 2016; 37: 111–115.Google Scholar
Ahmed, MR, Sethna, S, Krueger, LA, Yang, MB, Hufnagel, RB. Variable anterior segment dysgenesis and cardiac anomalies caused by a novel truncating variant of FOXC1. Genes (Basel) 2022; 13: 13.CrossRefGoogle ScholarPubMed
Campione, M, Steinbeisser, H, Schweickert, A, et al. The homeobox gene Pitx2: mediator of asymmetric left-right signaling in vertebrate heart and gut looping. Development 1999; 126: 1225–1234.10.1242/dev.126.6.1225CrossRefGoogle ScholarPubMed
Chrystal, PW, French, CR, Jean, F, et al. The Axenfeld-Rieger syndrome gene FOXC1 contributes to Left-Right patterning. Genes (Basel) 2021; 12: 12.10.3390/genes12020170CrossRefGoogle ScholarPubMed
Ferre-Fernandez, JJ, Sorokina, EA, Thompson, S, et al. Disruption of foxc1 genes in zebrafish results in dosage-dependent phenotypes overlapping Axenfeld-Rieger syndrome. Hum Mol Genet 2020; 29: 2723–2735.CrossRefGoogle ScholarPubMed
Hendee, KE, Sorokina, EA, Muheisen. SS, etal, PITX2 deficiency and associated human disease: insights from the zebrafish model. Hum Mol Genet 2018; 27: 1675–1695.CrossRefGoogle Scholar
Ji, Y, Buel, SM, Amack, JD. Mutations in zebrafish pitx2 model congenital malformations in Axenfeld-Rieger syndrome but do not disrupt left-right placement of visceral organs. Dev Biol 2016; 416: 69–81.10.1016/j.ydbio.2016.06.010CrossRefGoogle Scholar
Lambers, E, Arnone, B, Fatima, A, Qin, G, Wasserstrom, JA, Kume, T. Foxc1 regulates early cardiomyogenesis and functional properties of embryonic stem cell derived cardiomyocytes. Stem Cells 2016; 34: 1487–1500.CrossRefGoogle ScholarPubMed
Ai, D, Liu, W, Ma, L, et al. Pitx2 regulates cardiac left-right asymmetry by patterning second cardiac lineage-derived myocardium. Dev Biol 2006; 296: 437–449.10.1016/j.ydbio.2006.06.009CrossRefGoogle ScholarPubMed
Franco, D, Campione, M. The role of Pitx2 during cardiac development. linking left-right signaling and congenital heart diseases. Trends Cardiovasc Med 2003; 13: 157–163.CrossRefGoogle ScholarPubMed
Lin, CR, Kioussi, C, O'Connell, S, et al. Pitx2 regulates lung asymmetry, cardiac positioning and pituitary and tooth morphogenesis. Cah Rev The 1999; 401: 279–282.Google ScholarPubMed
Yu, X, St Amand, TR, Wang, S, et al. Differential expression and functional analysis of Pitx2 isoforms in regulation of heart looping in the chick. Development 2001; 128: 1005–1013.CrossRefGoogle ScholarPubMed
Tumer, Z, Bach-Holm, D. Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations. Eur J Hum Genet 2009; 17: 1527–1539.CrossRefGoogle ScholarPubMed
Berry, FB, Lines, MA, Oas, JM, et al. Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis. Hum Mol Genet 2006; 15: 905–919.10.1093/hmg/ddl008CrossRefGoogle ScholarPubMed
Zhao, CM, Peng, LY, Li, L, et al. PITX2 Loss-of-Function mutation contributes to congenital endocardial cushion defect and Axenfeld-Rieger syndrome. PLoS One 2015; 10: e0124409.10.1371/journal.pone.0124409CrossRefGoogle ScholarPubMed
Sun, YM, Wang, J, Qiu. XB, etal, PITX2 loss-of-function mutation contributes to tetralogy of fallot. Gene 2016; 577: 258–264.10.1016/j.gene.2015.12.001CrossRefGoogle Scholar
Vande Perre, P, Zazo Seco, C, Patat, O, et al. 4q25 microdeletion encompassing PITX2: a patient presenting with tetralogy of fallot and dental anomalies without ocular features. Eur J Med Genet 2018; 61: 72–78.CrossRefGoogle ScholarPubMed
Seo, S, Kume, T. Forkhead transcription factors, Foxc1 and Foxc2, are required for the morphogenesis of the cardiac outflow tract. Dev Biol 2006; 296: 421–436.CrossRefGoogle ScholarPubMed
Bekir, NA, Gungor, K. Atrial septal defect with interatrial aneurysm and Axenfeld-Rieger syndrome. Acta Ophthalmol Scand 2000; 78: 101–103.10.1034/j.1600-0420.2000.078001101.xCrossRefGoogle ScholarPubMed