Cited by 654Congenital heart defects researchCongenital Heart Disease StudiesCardiac electrophysiology and arrhythmias

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Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association

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Pierpont, Mary Ella, Brueckner, Martina, Chung, Wendy K., Garg, Vidu, Lacro, Ronald V., McGuire, Amy L., Mital, Seema, Priest, James R., Pu, William T., Roberts, Amy, Ware, Stephanie M., Gelb, Bruce D., Russell, Mark W., On behalf of the American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine·2018·Circulation

DOI 10.1161/cir.0000000000000606PMC PMC6555769

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Abstract

This review provides an updated summary of the state of our knowledge of the genetic contributions to the pathogenesis of congenital heart disease. Since 2007, when the initial American Heart Association scientific statement on the genetic basis of congenital heart disease was published, new genomic techniques have become widely available that have dramatically changed our understanding of the causes of congenital heart disease and, clinically, have allowed more accurate definition of the pathogeneses of congenital heart disease in patients of all ages and even prenatally. Information is presented on new molecular testing techniques and their application to congenital heart disease, both isolated and associated with other congenital anomalies or syndromes. Recent advances in the understanding of copy number variants, syndromes, RASopathies, and heterotaxy/ciliopathies are provided. Insights into new research with congenital heart disease models, including genetically manipulated animals such as mice, chicks, and zebrafish, as well as human induced pluripotent stem cell–based approaches are provided to allow an understanding of how future research breakthroughs for congenital heart disease are likely to happen. It is anticipated that this review will provide a large range of health care–related personnel, including pediatric cardiologists, pediatricians, adult cardiologists, thoracic surgeons, obstetricians, geneticists, genetic counselors, and other related clinicians, timely information on the genetic aspects of congenital heart disease. The objective is to provide a comprehensive basis for interdisciplinary care for those with congenital heart disease.

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Cornwall, J. W., Green, R. S., Nielsen, J. C., et al. (2013) · The American Journal of Cardiology · doi:10.1016/j.amjcard.2013.09.034 · Cited by 33
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Ta‐Shma, A., Ellaham, N., Edvardson, S., Stepensky, P., Nir, A., Perles, Z., Gavri, S., Golender, J., Yaakobi-Simhayoff, N., Shaag, A., et al. (2014) · Journal of Medical Genetics · doi:10.1136/jmedgenet-2013-102100 · Cited by 32
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Kondoh, T., Shimokawa, O., Harada, N., et al. (2004) · Journal of Human Genetics · doi:10.1007/s10038-004-0213-9 · Cited by 29
Clinical spectrum of Kabuki‐like syndrome caused by HNRNPK haploinsufficiency
Dentici, M. L., Barresi, S., Niceta, M., et al. (2017) · Clinical Genetics · doi:10.1111/cge.13029 · Cited by 29
A primer to clinical genome sequencing
Priest, J. R. (2017) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000532 · Cited by 29
Self-citation
22q11.2 deletion syndrome as a risk factor for aortic root dilation in tetralogy of Fallot
John, A. S., Rychik, J. R., Khan, M., Yang, W. P., & Goldmuntz, E. (2013) · Cardiology in the Young · doi:10.1017/s1047951113000309 · Cited by 28
Mutations in DYNC2H1 , the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type
Badiner, N. M., Taylor, S. P., Forlenza, K. N., Lachman, R. S., Bamshad, M. J., Nickerson, D. A., Cohn, D. H., & Krakow, D. (2016) · Clinical Genetics · doi:10.1111/cge.12947 · Cited by 28
Identification of a Novel ZIC3 Isoform and Mutation Screening in Patients with Heterotaxy and Congenital Heart Disease
Bedard, J. E. J., Haaning, A., & Ware, S. M. (2011) · PLoS ONE · doi:10.1371/journal.pone.0023755 · Cited by 27
Self-citation
Pericentric inversion of chromosome 6 in a patient with cleidocranial dysplasia
Nienhaus, H., Mau, U. A., Zang, K. D., et al. (1993) · American Journal of Medical Genetics · doi:10.1002/ajmg.1320460605 · Cited by 27
Novel copy-number variants in a population-based investigation of classic heterotaxy
Rigler, S. L., Kay, D. M., Sicko, R. J., et al. (2014) · Genetics in Medicine · doi:10.1038/gim.2014.112 · Cited by 26
Anaesthesia-Related Haemodynamic Complications in Williams Syndrome Patients: A Review of One Institution's Experience
Olsen, M., Fahy, C. J., Costi, D. A., et al. (2014) · Anaesthesia and Intensive Care · doi:10.1177/0310057x1404200512 · Cited by 26
Rare novel variants in the ZIC3 gene cause X-linked heterotaxy
Paulussen, A. D. C., Steyls, A., Vanoevelen, J. M., et al. (2016) · European Journal of Human Genetics · doi:10.1038/ejhg.2016.91 · Cited by 25
The Current Landscape of Genetic Testing in Cardiovascular Malformations: Opportunities and Challenges
Landis, B. J., & Ware, S. M. (2016) · Frontiers in Cardiovascular Medicine · doi:10.3389/fcvm.2016.00022 · Cited by 25
Self-citation
Ocular manifestations of Noonan syndrome
Marin, L. D. R. P., da Silva, F. T. B. G. C., de Sá, L. C. F., et al. (2011) · Ophthalmic Genetics · doi:10.3109/13816810.2011.593606 · Cited by 24
The Growth Characteristics of Patients with Noonan Syndrome: Results of Three Years of Growth Hormone Treatment: A Nationwide Multicenter Study
Şıklar, Z., Genenş, M., Poyrazoğlu, Ş., et al. (2016) · Journal of Clinical Research in Pediatric Endocrinology · doi:10.4274/jcrpe.3013 · Cited by 24
The Epidemiology of Cardiovascular Malformations
Wren, C. (2012) · Wiley eBooks · doi:10.1002/9781444398786.ch19 · Cited by 23
Sequence to Medical Phenotypes: A Framework for Interpretation of Human Whole Genome DNA Sequence Data
Dewey, F. E., Grove, M. E., Priest, J. R., Waggott, D. M., Batra, P., Miller, C. L., Wheeler, M. T., Zia, A., Pan, C., Karczewski, K. J., et al. (2015) · PLoS Genetics · doi:10.1371/journal.pgen.1005496 · Cited by 23
Self-citation
Familial Nonsyndromic Patent Ductus Arteriosus Caused by Mutations in TFAP2B
Chen, Y., Zhao, W., Zhang, Z., et al. (2011) · Pediatric Cardiology · doi:10.1007/s00246-011-0024-7 · Cited by 23
The value of the clinical geneticist caring for adults with congenital heart disease: Diagnostic yield and patients' perspective
van Engelen, K., Baars, M. J. H., Felix, J. P., Postma, A. V., Mulder, B. J. M., & Smets, E. M. A. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.35973 · Cited by 23
Outcome of fetuses with increased nuchal translucency
Bilardo, C. M., Müller, M. A., & Pajkrt, E. (2001) · Current Opinion in Obstetrics & Gynecology · doi:10.1097/00001703-200104000-00012 · Cited by 23
Inheritance of congenital heart disease.
Roos-Hesselink, J. W., Kerstjens‐Frederikse, W. S., Meijboom, F. J., et al. (2005) · PubMed · Cited by 23
[The Adams-Oliver syndrome in Spain: the epidemiological aspects].
Ml, M.-F., Carrera, I. A., Muñoz-Delgado, N. J., et al. (1996) · PubMed · Cited by 23
Developmental stage determines efficiency of gene transfer to muscle satellite cells by in utero delivery of adeno-associated virus vector serotype 2/9
Stitelman, D. H., Brazelton, T. R., Bora, A., Traas, J., Merianos, D. J., Limberis, M. P., Davey, M. G., & Flake, A. W. (2014) · Molecular Therapy — Methods & Clinical Development · doi:10.1038/mtm.2014.40 · Cited by 21
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways
Hagen, E. M., Sicko, R. J., Kay, D. M., Rigler, S. L., Dimopoulos, A., Ahmad, S., Doleman, M. H., Fan, R., Romitti, P. A., Browne, M. L., et al. (2016) · Human Genetics · doi:10.1007/s00439-016-1727-x · Cited by 21
KMT2D p.Gln3575His segregating in a family with autosomal dominant choanal atresia strengthens the Kabuki/CHARGE connection
Badalato, L., Farhan, S. M. K., Dilliott, A. A., et al. (2016) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38010 · Cited by 20
Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death
Ramond, F., Duband, S., Croisille, P., et al. (2017) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2017.03.009 · Cited by 20
GATA4 transgenic mice as an in vivo model of congenital heart disease
Han, H., Chen, Y., LIU, G., Han, Z., Zhao, Z., & Tang, Y. (2015) · International Journal of Molecular Medicine · doi:10.3892/ijmm.2015.2178 · Cited by 19
Oral Manifestations in Ellis-van Creveld Syndrome: Report of a Case and Review of the Literature
Hanemann, J. A. C., de Carvalho, B. C. F., & Franco, E. C. (2010) · Journal of Oral and Maxillofacial Surgery · doi:10.1016/j.joms.2009.07.026 · Cited by 19
Congenital heart defects in oculodentodigital dysplasia: Report of two cases
Izumi, K., Lippa, A. M., Wilkens, A., Feret, H. A., McDonald‐McGinn, D. M., & Zackai, E. H. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36159 · Cited by 19
Mutation analysis of Connexon43 gene in Chinese patients with congenital heart defects
Wang, B., Wen, Q., Xie, X., et al. (2009) · International Journal of Cardiology · doi:10.1016/j.ijcard.2009.06.026 · Cited by 18
Congenital arch vessel anomalies in CHARGE syndrome: A frequent feature with risk for co-morbidity
Corsten‐Janssen, N., van Ravenswaaij‐Arts, C. M. A., & Kapusta, L. (2016) · IJC Heart & Vasculature · doi:10.1016/j.ijcha.2016.05.015 · Cited by 18
Lymphedema in Noonan's Syndrome
White, S. W. (1984) · International Journal of Dermatology · doi:10.1111/j.1365-4362.1984.tb01226.x · Cited by 17
High burden of genetic conditions diagnosed in a cardiac neurodevelopmental clinic
Goldenberg, P. C., Adler, B. J., Parrott, A., Anixt, J. S., Mason, K., Phillips, J. M., Cooper, D. S., Ware, S. M., & Marino, B. S. (2016) · Cardiology in the Young · doi:10.1017/s104795111600072x · Cited by 17
Self-citation
Char syndrome: a new family and review of the literature emphasising the presence of symphalangism and the variable phenotype
Sweeney, E., Fryer, A. E., & Walters, M. (2000) · Clinical Dysmorphology · doi:10.1097/00019605-200009030-00005 · Cited by 15
Optical coherence tomography and fundus autofluorescence imaging study of chorioretinal atrophy involving the macula in Alagille syndrome
Makino, S., Ohkubo, & Tampo (2012) · Clinical ophthalmology · doi:10.2147/opth.s36146 · Cited by 15
Provision of Cardiovascular Genetic Counseling Services: Current Practice and Future Directions
Somers, A. E., Ware, S. M., Collins, K., Jefferies, J. L., He, H., & Miller, E. M. (2014) · Journal of Genetic Counseling · doi:10.1007/s10897-014-9719-2 · Cited by 15
Self-citation
Association of INVS (NPHP2) mutation in an adolescent exhibiting nephronophthisis (NPH) and complete situs inversus
Okada, M., Sugimoto, K., Shimada, Y., Fujita, S., Yanagida, H., Yagi, K., & Takemura, T. (2008) · Clinical Nephrology · doi:10.5414/cnp69135 · Cited by 15
Predictive genetic testing of minors: evidence and experience with families
Biesecker, B. B. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.191 · Cited by 15
Brain hemorrhages in Jacobsen syndrome: A retrospective review of six cases and clinical recommendations
Grossfeld, P. (2017) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.38032 · Cited by 15
Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease
Zahavich, L. A., Bowdin, S. C., & Mital, S. R. (2017) · Circulation Cardiovascular Genetics · doi:10.1161/circgenetics.116.001581 · Cited by 15
Self-citation
Holt-Oram Syndrome
McDermott, D. A., Fong, J. C., & Basson, C. T. (2015) · Europe PMC (PubMed Central) · Cited by 14
Coagulation abnormalities and haemostatic surgical outcomes in 142 patients with Noonan syndrome
Botero, J. P., Ho, T. P., Rodriguez, V., et al. (2017) · Haemophilia · doi:10.1111/hae.13225 · Cited by 14
Persistently elevated nuchal translucency and the fetal heart
Vigneswaran, T. V., Homfray, T., Allan, L. D., et al. (2017) · The Journal of Maternal-Fetal & Neonatal Medicine · doi:10.1080/14767058.2017.1342804 · Cited by 14
1p36 Deletion Syndrome
Battaglia, A. (2013) · Cited by 12
Hypoplastic Left Heart Syndrome in Patients With Kabuki Syndrome
Digilio, M. C., Baban, A., Marino, B., et al. (2010) · Pediatric Cardiology · doi:10.1007/s00246-010-9773-y · Cited by 12
7q11.23 Duplication Syndrome
Mervis, C. Β., Morris, C. A., Klein-Tasman, B., Velleman, S. L., & Osborne, L. R. (2015) · Europe PMC (PubMed Central) · Cited by 12
The atypical cadherin Dachsous1 localizes to the base of the ciliary apparatus in airway epithelia
Dau, C., Fliegauf, M., Omran, H., et al. (2016) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2016.04.036 · Cited by 12
Genetic causes of sudden cardiac death in children: inherited arrhythmogenic diseases
Vacanti, G., Maragna, R., Priori, S. G., & Mazzanti, A. (2017) · Current Opinion in Pediatrics · doi:10.1097/mop.0000000000000537 · Cited by 12
Partial trisomy of the distal part of 10q: a report of two Egyptian cases.
Aglan, M., Kamel, A. K., & Helmy, N. A. (2008) · PubMed · Cited by 11
Transient QT interval prolongation in an infant with Simpson–Golabi–Behmel syndrome
Gertsch, E., Kirmani, S., Ackerman, M. J., & Babovic‐Vuksanovic, D. (2010) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.33561 · Cited by 11
At the Heart of the Pregnancy: What Prenatal and Cardiovascular Genetic Counselors Need to Know about Maternal Heart Disease
Morales, A., Allain, D. C., Arscott, P. L., James, E., MacCarrick, G. L., Murray, B. A., Tichnell, C., Shikany, A. R., Spencer, S., Fitzgerald‐Butt, S. M., et al. (2017) · Journal of Genetic Counseling · doi:10.1007/s10897-017-0081-z · Cited by 11
Transposition of the great vessels in a patient with a 2.9 Mb interstitial deletion of 9q31.1 encompassing the inversin gene: Clinical report and review
van Bon, B. W. M., Koolen, D. A., Pfundt, R., et al. (2008) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.32289 · Cited by 10
C offin‐ L owry Syndrome
Hunter, A. G. W. (2005) · doi:10.1002/0471695998.mgs012 · Cited by 7
Concepts of Cell Lineage in Mammalian Embryos
Papaioannou, V. E. (2016) · Current topics in developmental biology/Current Topics in Developmental Biology · doi:10.1016/bs.ctdb.2015.10.013 · Cited by 7
VACTERL association with double-chambered left ventricle: A rare occurrence
Panduranga, P., Al-Farqani, A., Al-Maskari, S. N., et al. (2013) · Annals of Pediatric Cardiology · doi:10.4103/0974-2069.115283 · Cited by 3
Untitled work
(1999) · doi:10.1002/(sici)1096-8628(19990423)83:5

Research works printed but not linked: 9

Morris, CA. Williams syndrome. Pagon, RA, Adam, MP, Ardinger, HH, Wallace, SE, Amemiya, A, Bean, LJH, Bird, TD, Ledbetter, N, Mefford, HC, Smith, RJH, Stephens, K, eds. In: GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993.
Haldeman-Englert, CR, Jewett, T. 1q21.1 recurrent microdeletion. Pagon, RA, Adam, MP, Ardinger, HH, Wallace, SE, Amemiya, A, Bean, LJH, Bird, TD, Ledbetter, N, Mefford, HC, Smith, RJH, Stephens, K, eds. In: GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993.
Rogers, RC, Abidi, FE. Coffin-Lowry syndrome. Pagon, RA, Adam, MP, Ardinger, HH, Wallace, SE, Amemiya, A, Bean, LJH, Bird, TD, Ledbetter, N, Mefford, HC, Smith, RJH, Stephens, K, eds. In: GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993.
10.1002/(SICI)1096-8628(19990423)83:5<378::AID-AJMG7>3.0.CO;2-A · DOI
Spinner, NB, Leonard, LD, Krantz, ID. Alagille syndrome. Pagon, RA, Adam, MP, Ardinger, HH, Wallace, SE, Amemiya, A, Bean, LJH, Bird, TD, Ledbetter, N, Mefford, HC, Smith, RJH, Stephens, K, eds. In: GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993.
Gelb, BD. Char syndrome. Pagon, RA, Adam, MP, Ardinger, HH, Wallace, SE, Amemiya, A, Bean, LJH, Bird, TD, Ledbetter, N, Mefford, HC, Smith, RJH, Stephens, K, eds. In: GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993.
Adam, MP, Hudgins, L, Hannibal, M. Kabuki syndrome. Pagon, RA, Adam, MP, Ardinger, HH, Wallace, SE, Amemiya, A, Bean, LJH, Bird, TD, Ledbetter, N, Mefford, HC, Smith, RJH, Stephens, K, eds. In: GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993.
Lalani, SR, Hefner, MA, Belmont, JW, Davenport, SLH. CHARGE syndrome. Pagon, RA, Adam, MP, Ardinger, HH, Wallace, SE, Amemiya, A, Bean, LJH, Bird, TD, Ledbetter, N, Mefford, HC, Smith, RJH, Stephens, K, eds. In: GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993.
Gripp, KW, Lin, AE. Costello syndrome. Pagon, RA, Adam, MP, Ardinger, HH, Wallace, SE, Amemiya, A, Bean, LJH, Bird, TD, Ledbetter, N, Mefford, HC, Smith, RJH, Stephens, K, eds. In: GeneReviews®. Seattle, WA: University of Washington, Seattle; 1993.

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Authors: Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., Ware, S. M., Gelb, B. D., Russell, M. W., & On behalf of the American Heart Association Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; and Council on Genomic and Precision Medicine
ORCID: Pierpont, Mary Ella
Brueckner, Martina
Chung, Wendy K.
Garg, Vidu
Lacro, Ronald V.
McGuire, Amy L.
Mital, Seema
Priest, James R.
Pu, William T.
Roberts, Amy
Ware, Stephanie M.
Gelb, Bruce D.
Russell, Mark W.
Venue: Circulation
Publisher: Ovid Technologies (Wolters Kluwer Health)
Published: 2018-11-20
Volume: 138
Issue: 21
Pages: e653-e711
ISSN: 0009-7322 (ISSN-L)
1524-4539
DOI: 10.1161/cir.0000000000000606
PMC: PMC6555769
OpenAlex: W2901940932
Cited by: 654
References: 539
Citations by year: 2026: 78 · 2025: 73 · 2024: 118 · 2023: 100 · 2022: 108 · 2021: 99 · 2020: 54 · 2019: 22
FWCI: 4.31
Type: journal article
Language: en
Update notices: correction (2018-11-19)
Open access: bronze
doi.org
Locations: Circulation (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: University of Minnesota
University of Washington
National Heart, Lung, and Blood Institute (R35HL135742, UM1HL098166, U10HL109737, R01HL128694, R01HL121797, R01HL111459, R01HL109758, U01HL131003, R00HL130523, U01HL098163, R01HL116461, UM1HL098123, P01HL134599)
National Human Genome Research Institute (U01HG006485, U01HG006500)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (U19HD077671)
Topics: Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Congenital heart defects research
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Congenital Heart Disease Studies
Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
Keywords: congenital heart disease, genetic basis, pathogenesis, copy number variation, syndromic congenital heart disease, RASopathies, heterotaxy syndrome, ciliopathies, prenatal diagnosis, molecular genetic testing, animal models, induced pluripotent stem cells, genetic counseling
MeSH terms: American Heart Association, Aneuploidy, Down Syndrome, Heart Defects, Congenital, Humans, United States, Genetic Variation, Polymorphism, Single Nucleotide, DNA Copy Number Variations

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