Impact of Mendelian Inheritance in Cardiovascular Disease

Overview

Journal Ann N Y Acad Sci

Specialty Science

Date 2010 Oct 21

PMID 20958326

Citations 6

Authors

Kim L McBride

Vidu Garg

Affiliations

Soon will be listed here.

Abstract

Cardiovascular disease is a leading cause of mortality worldwide. While the etiology for the majority of cardiovascular disease is presumed to be a combination of genetic and environmental factors, developments in understanding the basic biology of cardiac disorders have been greatly advanced through discoveries made studying heart diseases that exhibit Mendelian forms of inheritance. Most of these diseases primarily affect children and young adults and include cardiomyopathies, arrhythmias, aortic aneurysms, and congenital heart defects. The discovery of the genetic etiologies for these diseases have had significant impact on our understanding of more complex forms of cardiovascular disease and in some cases have led to novel diagnostic and treatment modalities. In this review, we will summarize these seminal genetic discoveries, highlighting a few that have resulted in significant impact on human disease, and discuss the potential utility of studying Mendelian-inherited heart disease with the development of new genetic technologies and our increased understanding of the human genome.

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References

Satoda M, Zhao F, Diaz G, Burn J, Goodship J, Davidson H . Mutations in TFAP2B cause Char syndrome, a familial form of patent ductus arteriosus. Nat Genet. 2000; 25(1):42-6. DOI: 10.1038/75578. View

Oda T, Elkahloun A, Pike B, Okajima K, Krantz I, Genin A . Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet. 1997; 16(3):235-42. DOI: 10.1038/ng0797-235. View

Aoki Y, Niihori T, Narumi Y, Kure S, Matsubara Y . The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Hum Mutat. 2008; 29(8):992-1006. DOI: 10.1002/humu.20748. View

Loeys B, Schwarze U, Holm T, Callewaert B, Thomas G, Pannu H . Aneurysm syndromes caused by mutations in the TGF-beta receptor. N Engl J Med. 2006; 355(8):788-98. DOI: 10.1056/NEJMoa055695. View

Wenstrup R, Meyer R, Lyle J, Hoechstetter L, Rose P, Levy H . Prevalence of aortic root dilation in the Ehlers-Danlos syndrome. Genet Med. 2002; 4(3):112-7. DOI: 10.1097/00125817-200205000-00003. View

Maslen C, Corson G, Maddox B, Glanville R, Sakai L . Partial sequence of a candidate gene for the Marfan syndrome. Nature. 1991; 352(6333):334-7. DOI: 10.1038/352334a0. View

Richard P, Charron P, Carrier L, Ledeuil C, Cheav T, Pichereau C . Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation. 2003; 107(17):2227-32. DOI: 10.1161/01.CIR.0000066323.15244.54. View

Spaendonck-Zwarts K, van Tintelen J, Van Veldhuisen D, van der Werf R, Jongbloed J, Paulus W . Peripartum cardiomyopathy as a part of familial dilated cardiomyopathy. Circulation. 2010; 121(20):2169-75. DOI: 10.1161/CIRCULATIONAHA.109.929646. View

Pierpont M, Basson C, Benson Jr D, Gelb B, Giglia T, Goldmuntz E . 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.... Circulation. 2007; 115(23):3015-38. DOI: 10.1161/CIRCULATIONAHA.106.183056. View

10.

McKellar S, Tester D, Yagubyan M, Majumdar R, Ackerman M, Sundt 3rd T . Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg. 2007; 134(2):290-6. DOI: 10.1016/j.jtcvs.2007.02.041. View

11.

Schluterman M, Krysiak A, Kathiriya I, Abate N, Chandalia M, Srivastava D . Screening and biochemical analysis of GATA4 sequence variations identified in patients with congenital heart disease. Am J Med Genet A. 2007; 143A(8):817-23. DOI: 10.1002/ajmg.a.31652. View

12.

Chen Q, Kirsch G, Zhang D, Brugada R, Brugada J, Brugada P . Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature. 1998; 392(6673):293-6. DOI: 10.1038/32675. View

13.

Keane M, Pyeritz R . Medical management of Marfan syndrome. Circulation. 2008; 117(21):2802-13. DOI: 10.1161/CIRCULATIONAHA.107.693523. View

14.

De Paepe A, Devereux R, Dietz H, Hennekam R, Pyeritz R . Revised diagnostic criteria for the Marfan syndrome. Am J Med Genet. 1996; 62(4):417-26. DOI: 10.1002/(SICI)1096-8628(19960424)62:4<417::AID-AJMG15>3.0.CO;2-R. View

15.

Hershberger R, Parks S, Kushner J, Li D, Ludwigsen S, Jakobs P . Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 2009; 1(1):21-6. PMC: 2633921. DOI: 10.1111/j.1752-8062.2008.00017.x. View

16.

Tester D, Ackerman M . Cardiomyopathic and channelopathic causes of sudden unexplained death in infants and children. Annu Rev Med. 2008; 60:69-84. DOI: 10.1146/annurev.med.60.052907.103838. View

17.

Albert T, Molla M, Muzny D, Nazareth L, Wheeler D, Song X . Direct selection of human genomic loci by microarray hybridization. Nat Methods. 2007; 4(11):903-5. DOI: 10.1038/nmeth1111. View

18.

Zhu L, Vranckx R, Khau Van Kien P, Lalande A, Boisset N, Mathieu F . Mutations in myosin heavy chain 11 cause a syndrome associating thoracic aortic aneurysm/aortic dissection and patent ductus arteriosus. Nat Genet. 2006; 38(3):343-9. DOI: 10.1038/ng1721. View

19.

Clouse W, Hallett Jr J, Schaff H, Spittell P, Rowland C, Ilstrup D . Acute aortic dissection: population-based incidence compared with degenerative aortic aneurysm rupture. Mayo Clin Proc. 2004; 79(2):176-80. DOI: 10.4065/79.2.176. View

20.

McBride K, Riley M, Zender G, Fitzgerald-Butt S, Towbin J, Belmont J . NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet. 2008; 17(18):2886-93. PMC: 2722892. DOI: 10.1093/hmg/ddn187. View