Literature DB >> 17519398

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.

Mary Ella Pierpont1, Craig T Basson, D Woodrow Benson, Bruce D Gelb, Therese M Giglia, Elizabeth Goldmuntz, Glenn McGee, Craig A Sable, Deepak Srivastava, Catherine L Webb.   

Abstract

The intent of this review is to provide the clinician with a summary of what is currently known about the contribution of genetics to the origin of congenital heart disease. Techniques are discussed to evaluate children with heart disease for genetic alterations. Many of these techniques are now available on a clinical basis. Information on the genetic and clinical evaluation of children with cardiac disease is presented, and several tables have been constructed to aid the clinician in the assessment of children with different types of heart disease. Genetic algorithms for cardiac defects have been constructed and are available in an appendix. It is anticipated that this summary will update a wide range of medical personnel, including pediatric cardiologists and pediatricians, adult cardiologists, internists, obstetricians, nurses, and thoracic surgeons, about the genetic aspects of congenital heart disease and will encourage an interdisciplinary approach to the child and adult with congenital heart disease.

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Year:  2007        PMID: 17519398     DOI: 10.1161/CIRCULATIONAHA.106.183056

Source DB:  PubMed          Journal:  Circulation        ISSN: 0009-7322            Impact factor:   29.690


  279 in total

Review 1.  Pluripotency of human embryonic and induced pluripotent stem cells for cardiac and vascular regeneration.

Authors:  Kenneth R Boheler
Journal:  Thromb Haemost       Date:  2010-05-10       Impact factor: 5.249

2.  Loss of Gata5 in mice leads to bicuspid aortic valve.

Authors:  Brigitte Laforest; Gregor Andelfinger; Mona Nemer
Journal:  J Clin Invest       Date:  2011-07       Impact factor: 14.808

3.  Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: introduction.

Authors:  Ariane Marelli; Luc Beauchesne; Seema Mital; Judith Therrien; Candice K Silversides
Journal:  Can J Cardiol       Date:  2010-03       Impact factor: 5.223

4.  Building a program in translational genomics.

Authors:  Jennifer L Hall
Journal:  J Cardiovasc Transl Res       Date:  2008-11-11       Impact factor: 4.132

Review 5.  Transforming growth factor beta signaling in adult cardiovascular diseases and repair.

Authors:  Thomas Doetschman; Joey V Barnett; Raymond B Runyan; Todd D Camenisch; Ronald L Heimark; Henk L Granzier; Simon J Conway; Mohamad Azhar
Journal:  Cell Tissue Res       Date:  2011-09-28       Impact factor: 5.249

6.  ChIP-Seq identification of weakly conserved heart enhancers.

Authors:  Matthew J Blow; David J McCulley; Zirong Li; Tao Zhang; Jennifer A Akiyama; Amy Holt; Ingrid Plajzer-Frick; Malak Shoukry; Crystal Wright; Feng Chen; Veena Afzal; James Bristow; Bing Ren; Brian L Black; Edward M Rubin; Axel Visel; Len A Pennacchio
Journal:  Nat Genet       Date:  2010-08-22       Impact factor: 38.330

Review 7.  CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes.

Authors:  Benjamin J Landis; David S Cooper; Robert B Hinton
Journal:  Cardiol Young       Date:  2015-09-08       Impact factor: 1.093

8.  Association analysis identifies new risk loci for congenital heart disease in Chinese populations.

Authors:  Yuan Lin; Xuejiang Guo; Bijun Zhao; Juanjuan Liu; Min Da; Yang Wen; Yuanli Hu; Bixian Ni; Kai Zhang; Shiwei Yang; Jing Xu; Juncheng Dai; Xiaowei Wang; Yankai Xia; Hongxia Ma; Guangfu Jin; Shiqiang Yu; Jiayin Liu; Bernard D Keavney; Judith A Goodship; Heather J Cordell; Xinru Wang; Hongbing Shen; Jiahao Sha; Zuomin Zhou; Yijiang Chen; Xuming Mo; Lingfei Luo; Zhibin Hu
Journal:  Nat Commun       Date:  2015-08-18       Impact factor: 14.919

9.  A parent-of-origin analysis of paternal genetic variants and increased risk of conotruncal heart defects.

Authors:  Wendy N Nembhard; Xinyu Tang; Jingyun Li; Stewart L MacLeod; Joseph Levy; Gerald B Schaefer; Charlotte A Hobbs
Journal:  Am J Med Genet A       Date:  2018-02-05       Impact factor: 2.802

10.  Current Practice and Utility of Chromosome Microarray Analysis in Infants Undergoing Cardiac Surgery.

Authors:  Jason R Buckley; Minoo N Kavarana; Shahryar M Chowdhury; Mark A Scheurer
Journal:  Congenit Heart Dis       Date:  2014-12-14       Impact factor: 2.007

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