Cardiovascular malformations caused by NOTCH1 mutations do not keep left: Data on 428 probands with left-sided CHD and their families

Genetics in Medicine

Volumn 18, Issue 9, 2016, Pages 914-923

  Kerstjens Frederikse, Wilhelmina S ^a   Van De Laar, Ingrid M B H ^b   Vos, Yvonne J ^a   Verhagen, Judith M A ^b   Berger, Rolf M F ^a   Lichtenbelt, Klaske D ^c   Klein Wassink Ruiter, Jolien S ^a   Van Der Zwaag, Paul A ^a   Du Marchie Sarvaas, Gideon J ^a   Bergman, Klasien A ^a   Bilardo, Catia M ^a   Roos Hesselink, Jolien W ^b   Janssen, Johan H P ^d   Frohn Mulder, Ingrid M ^b   Van Spaendonck Zwarts, Karin Y ^a   Van Melle, Joost P ^a   Hofstra, Robert M W ^a,b,e   Wessels, M W ^b  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^d ST ANNA HOSPITAL   (Netherlands)

^e UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

aortic coarctation; aortic valve; bicuspid; hypoplastic left heart syndrome; NOTCH1

Indexed keywords

NOTCH1 RECEPTOR; NOTCH1 PROTEIN, HUMAN;

ADULT; AGED; AORTA ANEURYSM; ARTICLE; CARDIOVASCULAR MALFORMATION; CHILD; CONGENITAL HEART DISEASE; CONTROLLED STUDY; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; HETEROZYGOTE; HUMAN; LEFT SIDED CONGENITAL HEART DISEASE; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PHENOTYPE; RNA SPLICING; SCHOOL CHILD; YOUNG ADULT; ADOLESCENT; AORTA; CONGENITAL HEART MALFORMATION; GENETICS; HEART FAILURE; HYPOPLASTIC LEFT HEART SYNDROME; MUTATION; PATHOPHYSIOLOGY; PEDIGREE; PRESCHOOL CHILD; THORACIC AORTA ANEURYSM;

ADOLESCENT; ADULT; AGED; AORTA; AORTIC ANEURYSM, THORACIC; CHILD; CHILD, PRESCHOOL; FEMALE; HEART DEFECTS, CONGENITAL; HEART FAILURE; HUMANS; HYPOPLASTIC LEFT HEART SYNDROME; MALE; MIDDLE AGED; MUTATION; PEDIGREE; RECEPTOR, NOTCH1;

EID: 84984940210     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.193     Document Type: Article

References (42)

1. Cripe L, Andelfinger G, Martin LJ, Shooner K, Benson DW. Bicuspid aortic valve is heritable. J Am Coll Cardiol 2004; 44: 138-143
2. McBride KL, Pignatelli R, Lewin M, et al. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: segregation, multiplex relative risk, and heritability. Am J Med Genet A 2005; 134A: 180-186
3. Hinton RB Jr, Martin LJ, Tabangin ME, Mazwi ML, Cripe LH, Benson DW. Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol 2007; 50: 1590-1595
4. Kerstjens-Frederikse WS, Du Marchie Sarvaas GJ, Ruiter JS, et al. Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives? Heart 2011; 97: 1228-1232
5. Hitz MP, Lemieux-Perreault LP, Marshall C, et al. Rare copy number variants contribute to congenital left-sided heart disease. PLoS Genet 2012; 8: e1002903
6. Michelena HI, Khanna AD, Mahoney D, et al. Incidence of aortic complications in patients with bicuspid aortic valves. JAMA 2011; 306: 1104-1112
7. Siu SC, Silversides CK. Bicuspid aortic valve disease. J Am Coll Cardiol 2010; 55: 2789-2800
8. Hirsch JC, Copeland G, Donohue JE, Kirby RS, Grigorescu V, Gurney JG. Population-based analysis of survival for hypoplastic left heart syndrome. J Pediatr 2011; 159: 57-63
9. Shuhaiber J, Morgan B, Gottliebson W. Survival outcomes following norwood procedure for hypoplastic left heart. Pediatr Cardiol 2015; 36: 57-63
10. Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis 2009; 4: 9
11. Pierpont ME, Basson CT, Benson DW Jr, et al. American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young. 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. Circulation 2007; 115: 3015-3038
12. Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ. Kabuki syndrome: clinical data in 20 patients, literature review, and further guidelines for preventive management. Am J Med Genet A 2005; 132A: 234-243
13. Gripp KW, Hopkins E, Jenny K, Thacker D, Salvin J. Cardiac anomalies in Axenfeld-Rieger syndrome due to a novel FOXC1 mutation. Am J Med Genet A 2013; 161A: 114-119
14. Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D. Mutations in NOTCH1 cause aortic valve disease. Nature 2005; 437: 270-274
15. McBride KL, Riley MF, Zender GA, Fitzgerald-Butt SM, Towbin JA, Belmont JW, Cole SE. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet 2008; 17: 2886-2893
16. Elliott DA, Kirk EP, Yeoh T, et al. Cardiac homeobox gene NKX2-5 mutations, and congenital heart disease: associations with atrial septal defect, and hypoplastic left heart syndrome. J Am Coll Cardiol 2003; 41: 2072-2076
17. Padang R, Bagnall RD, Richmond DR, Bannon PG, Semsarian C. Rare nonsynonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. J Mol Cell Cardiol 2012; 53: 277-281
18. Shi LM, Tao JW, Qiu XB, et al. GATA5 loss-of-function mutations associated with congenital bicuspid aortic valve. Int J Mol Med 2014; 33: 1219-1226
19. Dasgupta C, Martinez AM, Zuppan CW, Shah MM, Bailey LL, Fletcher WH. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res 2001; 479: 173-186
20. Tan HL, Glen E, Töpf A, et al. Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Hum Mutat 2012; 33: 720-727
21. Theis JL, Zimmermann MT, Evans JM, et al. Recessive MYH6 mutations in hypoplastic left heart with reduced ejection fraction. Circ Cardiovasc Genet 2015; 8: 564-571
22. Artavanis-Tsakonas S, Rand MD, Lake RJ. Notch signaling: cell fate control, and signal integration in development. Science 1999; 284: 770-776
23. Bray SJ. Notch signalling: a simple pathway becomes complex. Nat Rev Mol Cell Biol 2006; 7: 678-689
24. Hori K, Sen A, Artavanis-Tsakonas S. Notch signaling at a glance. J Cell Sci 2013; 126: 2135-2140
25. Bray S, Bernard F. Notch targets, and their regulation. Curr Top Dev Biol 2010; 92: 253-275
26. Timmerman LA, Grego-Bessa J, Raya A, et al. Notch promotes epithelialmesenchymal transition during cardiac development, and oncogenic transformation. Genes Dev 2004; 18: 99-115
27. Luna-Zurita L, Prados B, Grego-Bessa J, et al. Integration of a Notch-dependent mesenchymal gene program, and Bmp2-driven cell invasiveness regulates murine cardiac valve formation. J Clin Invest 2010; 120: 3493-3507
28. Theodoris CV, Li M, White MP, et al. Human disease modeling reveals integrated transcriptional, and epigenetic mechanisms of NOTCH1 haploinsufficiency. Cell 2015; 160: 1072-1086
29. Acharya A, Hans CP, Koenig SN, et al. Inhibitory role of Notch1 in calcific aortic valve disease. PLoS One 2011; 6: e27743
30. Ducharme V, Guauque-Olarte S, Gaudreault N, Pibarot P, Mathieu P, Bossé Y. NOTCH1 genetic variants in patients with tricuspid calcific aortic valve stenosis. J Heart Valve Dis 2013; 22: 142-149
31. Mohamed SA, Aherrahrou Z, Liptau H, et al. Novel missense mutations (p.T596M, and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve. Biochem Biophys Res Commun 2006; 345: 1460-1465
32. McKellar SH, Tester DJ, Yagubyan M, Majumdar R, Ackerman MJ, Sundt TM 3rd. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease, and thoracic aortic aneurysms. J Thorac Cardiovasc Surg 2007; 134: 290-296
33. Iascone M, Ciccone R, Galletti L, et al. Identification of De novo mutations, and rare variants in hypoplastic left heart syndrome. Clin Genet 2012; 81: 542-554
34. Foffa I, Ait Alì L, Panesi P, et al. Sequencing of NOTCH1, GATA5, TGFBR1, and TGFBR2 genes in familial cases of bicuspid aortic valve. BMC Med Genet 2013; 14: 44
35. Wakamatsu Y, Maynard TM, Weston JA. Fate determination of neural crest cells by NOTCH-mediated lateral inhibition, and asymmetrical cell division during gangliogenesis. Development 2000; 127: 2811-2821
36. High FA, Zhang M, Proweller A, et al. An essential role for Notch in neural crest during cardiovascular development, and smooth muscle differentiation. J Clin Invest 2007; 117: 353-363
37. Greenway SC, Pereira AC, Lin JC, et al. De novo copy number variants identify new genes, and loci in isolated sporadic tetralogy of Fallot. Nat Genet 2009; 41: 931-935
38. Luxán G, Casanova JC, Martínez-Poveda B, et al. Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy. Nat Med 2013; 19: 193-201
39. Stittrich AB, Lehman A, Bodian DL, et al. Mutations in NOTCH1 cause Adams-Oliver syndrome. Am J Hum Genet 2014; 95: 275-284
40. Southgate L, Sukalo M, Karountzos AS, et al. Haploinsufficiency of the NOTCH1 receptor as a cause of Adams-Oliver syndrome with variable cardiac anomalies. Circ Cardiovasc Genet 2015; 8: 572-581
41. Wessels MW, Willems PJ. Genetic factors in non-syndromic congenital heart malformations. Clin Genet 2010; 78: 103-123
42. Pediatric Cardiac Genomics Consortium. The congenital heart disease genetic network study: rationale, design, and early results. Circ Res 2013; 112: 698-706