Skip to main content Accessibility help
×
Hostname: page-component-76fb5796d-2lccl Total loading time: 0 Render date: 2024-04-25T13:55:02.732Z Has data issue: false hasContentIssue false

Chapter 14 - Deciphering the Mechanisms of Developmental Heart Disease: Research from Embryonic Knockout Mice

from Structural Heart Disease in the Fetus

Published online by Cambridge University Press:  21 October 2019

Mark D. Kilby
Affiliation:
University of Birmingham
Anthony Johnson
Affiliation:
University of Texas Medical School at Houston
Dick Oepkes
Affiliation:
Leids Universitair Medisch Centrum
Get access

Summary

Congenital heart disease (CHD) describes the abnormalities of the heart or great vessels that are present at birth and that significantly impair the function of the cardiovascular system. It is the most common birth defect, affecting up to 2% of live-born children: according to the British Heart Foundation (BHF Statistics 2018), CHD is detected in 1 out of 180 babies (excluding bicuspid aortic valve), which translates into at least 4000 affected infants in the UK per year. CHD is diagnosed in over 8% of premature births and is a leading cause of infant mortality (up to 10% of cases). Cardiac abnormalities account for more than 9% of all stillbirths after 20 weeks and up to 4% of spontaneous miscarriages before 20 weeks of pregnancy. It is estimated that in the European Union, 3000 children with heart defects die annually as ‘terminations of pregnancy for fetal anomaly’, late fetal death or early neonatal death. Some malformations, such as aortic valve anomalies, often do not manifest at birth, and as more diagnoses are being made later in life, the number of CHD cases only increases [1–3].

Type
Chapter
Information
Fetal Therapy
Scientific Basis and Critical Appraisal of Clinical Benefits
, pp. 133 - 145
Publisher: Cambridge University Press
Print publication year: 2020

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

McGovern, E, Sands, AJ. Perinatal management of major congenital heart disease. Ulster Med J. 2014; 83: 135–9.Google ScholarPubMed
Jorgensen, M, McPherson, E, Zaleski, C, Shivaram, P, Cold, C. Stillbirth: the heart of the matter. Am J Med Genet A. 2014; 164A: 691–9.Google Scholar
Dolk, H, Loane, M, Garne, E, European Surveillance of Congenital Anomalies (EUROCAT) Working Group. Congenital heart defects in Europe: prevalence and perinatal mortality, 2000 to 2005. Circulation. 2011; 123: 841–9.Google Scholar
Hoffman, JI, Kaplan, S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002; 39: 1890–900.Google Scholar
Chaix, MA, Andelfinger, G, Khairy, P. Genetic testing in congenital heart disease: a clinical approach. World J Cardiol. 2016; 8: 180–91.Google Scholar
Russell, MW, Chung, WK, Kaltman, JR, Miller, TA. Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes. J Am Heart Assoc. 2018; 7: e006906.Google Scholar
Weissberg, P (ed.). Children and Young People Statistics 2013. London: British Heart Foundation, 2013.Google Scholar
Fahed, AC, Nemer, GM. Genetic Causes of Syndromic and Non-syndromic Congenital Heart Disease. In Cooper, D and Chen, J-M, eds., Mutations in Human Genetic Disease. London: IntechOpen, 2012.Google Scholar
Fahed, AC, Gelb, BD, Seidman, JG, Seidman, CE. Genetics of congenital heart disease: the glass half empty. Circ Res. 2013; 112: 707–20.CrossRefGoogle ScholarPubMed
Leatherbury, L, Berul, CI. Genetics of congenital heart disease: is the glass now half-full? Circ Cardiovasc Genet. 2017; 10: e001746.Google Scholar
Waardenberg, AJ, Ramialison, M, Bouveret, R, Harvey, RP. Genetic networks governing heart development. Cold Spring Harb Perspect Med. 2014; 4: a013839.Google Scholar
Moon, A. Mouse models of congenital cardiovascular disease. Curr Top Dev Biol. 2008; 84: 171248.Google Scholar
Dickinson, ME, Flenniken, AM, Ji, X, Teboul, L, Wong, MD, White, JK, et al. High-throughput discovery of novel developmental phenotypes. Nature. 2016; 537: 508514.CrossRefGoogle ScholarPubMed
Wilson, R, Geyer, SH, Reissig, L, Rose, J, Szumska, D, Hardman, E, et al. Highly variable penetrance of abnormal phenotypes in embryonic lethal knockout mice. Wellcome Open Res. 2016; 1: 1.Google Scholar
Bellmann, K, Perrot, A, Rickert-Sperling, S. Human Genetics of Ventricular Septal Defect. In Rickert-Sperling, S, Kelly, R, Driscoll, D, eds., Congenital Heart Diseases: The Broken Heart. Vienna: Springer, 2016.Google Scholar
Penny, DJ, Vick, GW 3rd. Ventricular septal defect. Lancet. 2011; 377: 1103–12.Google Scholar
Schoenwolf, GC, Bleyl, S, Brauer, P, Francis-West, P. Larsen’s Human Embryology, 5th edn. Philadelphia: Churchill-Livingstone, 2014.Google Scholar
Geyer, SH, Reissig, L, Rose, J, Wilson, R, Prin, F, Szumska, D, et al. A staging system for correct phenotype interpretation of mouse embryos harvested on embryonic day 14 (E14.5). J Anat. 2017; 230: 710–19.Google Scholar
Geyer, SH, Reissig, LF, Hüsemann, M, Höfle, C, Wilson, R, Prin, F, et al. Morphology, topology and dimensions of the heart and arteries of genetically normal and mutant mouse embryos at stages S21-S23. J Anat. 2017; 231: 600614.Google Scholar
Webb, G, Gatzoulis, MA. Atrial septal defects in the adult: recent progress and overview. Circulation. 2006; 114: 1645–53.Google Scholar
Khan, R, Jay, PY. Human Genetics of Atrial Septal Defect. In Rickert-Sperling, S, Kelly, R, Driscoll, D, eds., Congenital Heart Diseases: The Broken Heart. Vienna: Springer, 2016.Google Scholar
Lin, CJ, Lin, CY, Chen, CH, Zhou, B, Chang, CP. Partitioning the heart: mechanisms of cardiac septation and valve development. Development. 2012; 139: 3277–99.CrossRefGoogle ScholarPubMed
Anderson, RH, Webb, S, Brown, NA, Lamers, W, Moorman, A. Development of the heart: (3) formation of the ventricular outflow tracts, arterial valves, and intrapericardial arterial trunks. Heart. 2003; 89: 1110–18.Google Scholar
Shaheen, R, Rahbeeni, Z, Alhashem, A, Faqeih, E, Zhao, Q, Xiong, Y, et al. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am J Hum Genet. 2014; 94: 898904.Google Scholar
Acuna-Hidalgo, R, Schanze, D, Kariminejad, A, Nordgren, A, Kariminejad, MH, Conner, P, et al. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 2014; 95: 285–93.Google Scholar
Martin, PS, Kloesel, B, Norris, RA, Lindsay, M, Milan, D, Body, SC. Embryonic Development of the Bicuspid Aortic Valve. J Cardiovasc Dev Dis. 2015; 2: 248–72.Google Scholar
Mathieu, P, Bossé, Y, Huggins, GS, Della Corte, A, Pibarot, P, Michelena, HI, et al. The pathology and pathobiology of bicuspid aortic valve: State of the art and novel research perspectives. J Pathol Clin Res. 2015; 1: 195206.Google Scholar
Combs, MD, Yutzey, KE. Heart valve development: regulatory networks in development and disease. Circ Res. 2009; 105: 408–21.Google Scholar
Freeze, SL, Landis, BJ, Ware, SM, Helm, BM. Bicuspid aortic valve: a review with recommendations for genetic counseling. J Genet Couns. 2016; 25: 1171–8.Google Scholar
Hinton, RB, Martin, LJ, Rame-Gowda, S, Tabangin, ME, Cripe, LH, Benson, DW. Hypoplastic left heart syndrome links to chromosomes 10q and 6q and is genetically related to bicuspid aortic valve. J Am Coll Cardiol. 2009; 53: 1065–71.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×