Genetics of bicuspid aortic valve aortopathy

Current Opinion in Cardiology

Volumn 31, Issue 6, 2016, Pages 585-592

  Andreassi, Maria G ^a   Della Corte, Alessandro ^b  

^a INSTITUTE OF CLINICAL PHYSIOLOGY   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

Author keywords

Aortopathy; Bicuspid aortic valve; DNA methylation; Genetics; miRNA

Indexed keywords

DIPEPTIDYL CARBOXYPEPTIDASE; ENDOTHELIAL NITRIC OXIDE SYNTHASE; FIBRILLIN 1; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; MATRIX METALLOPROTEINASE; MICRORNA; NOTCH1 RECEPTOR; SMAD6 PROTEIN; TRANSCRIPTION FACTOR GATA 5; TRANSCRIPTION FACTOR NKX2.5; TRANSFORMING GROWTH FACTOR BETA RECEPTOR 2;

AORTA ANEURYSM; AORTA DISEASE; AORTA DISSECTION; AORTA SURGERY; AORTA VALVE REPLACEMENT; BICUSPID AORTIC VALVE; BICUSPID AORTIC VALVE AORTOPATHY; CARDIOVASCULAR MALFORMATION; COPY NUMBER VARIATION; DISEASE COURSE; DNA METHYLATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC RISK; GENETIC VARIABILITY; HEMODYNAMICS; HERITABILITY; HIGH THROUGHPUT SEQUENCING; HISTONE MODIFICATION; HUMAN; MISSENSE MUTATION; NEXT GENERATION SEQUENCING; NONHUMAN; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; ABNORMALITIES; AORTIC VALVE; AORTIC VALVE STENOSIS; GENETICS; PROCEDURES; VALVULAR HEART DISEASE;

AORTIC VALVE; AORTIC VALVE STENOSIS; HEART VALVE DISEASES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS;

EID: 84984671846     PISSN: 02684705     EISSN: 15317080     Source Type: Journal    
DOI: 10.1097/HCO.0000000000000328     Document Type: Review

References (75)

1. Fedak P, Verma S, David T, et al. Clinical and pathophysiological implications of a bicuspid aortic valve. Circulation 2002; 106:900-904.
2. Siu SC, Silversides CK. Bicuspid aortic valve disease. J Am Coll Cardiol 2010; 55:2789-2800.
3. Hajar R. Da Vinci's anatomical drawings the heart. Heart Views 2002; 3:12.
4. Peacock T. Malformations occurring the later periods of foetal life. On malformations of the human heart. London: Churchill; 1866; 133.
5. Osler W. The bicuspid condition of the aortic valves. Trans Assoc Am Physicians 1886; 1:185-192.
6. Wauchope G. The clinical importance of variations in the number of cusps forming the aortic and pulmonary valves. QJM 1928; 21:383-399.
7. Laforest B, Nemer M. Genetic insights into bicuspid aortic valve formation. Cardiol Res Pract 2012; 2012:180297.
8. Mordi I, Tzemos N. Bicuspid aortic valve disease: a comprehensive review. Cardiol Res Pract 2012; 2012:196037.
9. Michelena HI, Prakash SK, Della Corte A, et al. Bicuspid aortic valve: identifying knowledge gaps and rising to the challenge from the International Bicuspid Aortic Valve Consortium (BAVCon). Circulation 2014; 129:2691-2704.
10. Prakash SK, Bosse Y, Muehlschlegel JD, et al. A roadmap to investigate the genetic basis of bicuspid aortic valve and its complications: insights from the International BAVCon (Bicuspid Aortic Valve Consortium). J Am Coll Cardiol 2014; 64:832-839.
11. Chandra S, Lang RM, Nicolarsen J, et al. Bicuspid aortic valve: inter-racial difference in frequency and aortic dimensions. JACC Cardiovasc Imaging 2012; 5:981-989.
12. Kari FA, Beyersdorf F, Siepe M. Pathophysiological implications of different bicuspid aortic valve configurations. Cardiol Res Pract 2012; 2012:735829.
13. Ward C. Clinical significance of the bicuspid aortic valve. Heart 2000; 83:81-85.
14. Roberts WC, Janning KG, Ko JM, et al. Frequency of congenitally bicuspid aortic valves in patients80 years of age undergoing aortic valve replacement for aortic stenosis (with or without aortic regurgitation) and implications for transcatheter aortic valve implantation. Am J Cardiol 2012; 109:1632-1636.
15. Michelena HI, Khanna AD, Mahoney D, et al. Incidence of aortic complications in patients with bicuspid aortic valves. JAMA 2011; 306:1104-1112.
16. Tadros TM, Klein MD, Shapira OM. Ascending aortic dilatation associated with bicuspid aortic valve: pathophysiology, molecular biology, and clinical implications. Circulation 2009; 119:880-890.
17. Della Corte A, Bancone C, Buonocore M, et al. Pattern of ascending aortic dimensions predicts the growth rate of the aorta in patients with bicuspid aortic valve. JACC Cardiovasc Imaging 2013; 6:1301-1313.
18. Rylski B, Blanke P, Beyersdorf F, et al. How does the ascending aorta geometry change when it dissects? J Am Coll Cardiol 2014; 63:1311-1319.
19. Detaint D, Michelena HI, Nkomo VT, et al. Aortic dilatation patterns and rates in adults with bicuspid aortic valves: a comparative study with Marfan syndrome and degenerative aortopathy. Heart 2014; 100:126-134.
20. Della Corte A. The conundrum of aortic dissection in patients with bicuspid aortic valve: the tissue, the mechanics and the mathematics. Eur J Cardiothorac Surg 2015; 48:150-151.
21. Della Corte A, Body SC, Booher AM, et al., International Bicuspid Aortic Valve Consortium (BAVCon) Investigators. Surgical treatment of bicuspid aortic valve disease: knowledge gaps and research perspectives. J Thorac Cardiovasc Surg 2014; 147:1749-1755.
22. Girdauskas E, Borger MA, Secknus MA, et al. Is aortopathy in bicuspid aortic valve disease a congenital defect or a result of abnormal hemodynamics? A critical reappraisal of a one-sided argument. Eur J Cardiothorac Surg 2011; 39:809-814.
23. Gale AN, McKusick VA, Hutchins GM, Gott VL. Familial congenital bicuspid aortic valve: secondary calcific aortic stenosis and aortic aneurysm. Chest 1977; 72:668-670.
24. Emanuel R, Withers R, O'Brien K, et al. Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families. Br Heart J 1978; 40:1402-1407.
25. Huntington K, Hunter AG, Chan KL. A prospective study to assess the frequency of familial clustering of congenital bicuspid aortic valve. J Am Coll Cardiol 1997; 30:1809-1812.
26. Glick BN, Roberts WC. Congenitally bicuspid aortic valve in multiple family members. Am J Cardiol 1994; 73:400-404.
27. Brown C, Sane DC, Kitzman DW. Bicuspid aortic valves in monozygotic twins. Echocardiography 2003; 20:183-184.
28. Cripe L, Andelfinger G, Martin J, et al. Bicuspid aortic valve is heritable. J Am Coll Cardiol 2004; 44:138-143.
29. Guntheroth WG. A critical review of the American College of Cardiology/American Heart Association practice guidelines on bicuspid aortic valve with dilated ascending aorta. Am J Cardiol 2008; 102:107-110.
30. Hiratzka LF, Bakris GL, Beckman JA, et al. ACCF/AHA/AATS/ACR/ASA/SCA/SCAI/SIR/STS/SVM Guidelines for the diagnosis and management of patients with thoracic aortic disease. Task Force on Practice Guidelines,American Association for Thoracic Surgery, American College of Radiology,American Stroke Association, Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, Society of Interventional Radiology, Society of Thoracic Surgeons, and Society for Vascular Medicine. Circulation 2010; 121:e266-e336.
31. John AS, McDonald-McGinn DM, Zackai EH, Goldmuntz E. Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet A 2009; 149:939-942.
32. Loeys BL, Chen J, Neptune ER, et al. A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2. Nat Genet 2005; 37:275-281.
33. Escárcega RO, Michelena HI, Bove AA. Bicuspid aortic valve: a neglected feature of Shone's complex? Pediatr Cardiol 2014; 35:186-187.
34. Nistri S, Porciani MC, Attanasio M, et al. Association of Marfan syndrome and bicuspid aortic valve: frequency and outcome. Int J Cardiol 2012; 155:324-325.
35. Garg V, Muth AN, Ransom JF, et al. Mutations in NOTCH1 cause aortic valve disease. Nature 2005; 437:270-274.
36. 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.
37. McKellar SH, Tester DJ, Yagubyan M, et al. Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms. J Thorac Cardiovasc Surg 2007; 134:290-296.
38. Foffa I, Ait Ali L, Panesi P, et al. Sequencing of NOTCH1, GATA5, TGFBRI and TGFBRII genes in familial cases of bicuspid aortic valve. BMCMedGenet 2013; 14:44.
39. McBride KL, Riley MF, Zender GA, et al. NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling. Hum Mol Genet 2008; 17:2886-2893.
40. Freylikhman O, Tatarinova T, Smolina N, et al. Variants in the NOTCH1 gene in patients with aortic coarctation. Congenit Heart Dis 2014; 9:391-396.
41. Theis JL, Hrstka SC, Evans JM, et al. Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome. Hum Genet 2015; 134:1003-1011.
42. Martin LJ, Ramachandran V, Cripe LH, et al. Evidence in favor of linkage to human chromosomal regions 18q, 5q and 13q for bicuspid aortic valve and associated cardiovascular malformations. Human Genetics 2007; 2:275-284.
43. Girdauskas E, Schulz S, Borger MA, et al. Transforming growth factor-beta receptor type II mutation in a patient with bicuspid aortic valve disease and intraoperative aortic dissection. Ann Thorac Surg 2011; 91:e70-e71.
44. Loscalzo ML, Goh DL, Loeys B, et al. Familial thoracic aortic dilation and bicommissural aortic valve: a prospective analysis of natural history and inheritance. Am J Med Genet A 2007; 143:1960-1967.
45. Arrington CB, Sower CT, Chuckwuk N, et al. Absence of TGFBR1 and TGFBR2 mutations in patients with bicuspid aortic valve and aortic dilation. Am J Cardiol 2008; 102:629-631.
46. Guo DC, Pannu H, Tran-Fadulu V, et al. Mutations in smooth muscle alphaactin (ACTA2) lead to thoracic aortic aneurysms and dissections. Nat Genet 2007; 39:1488-1493.
47. Andelfinger G, Tapper AR, Welch RC, et al. KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes. Am J Hum Genet 2002; 71:663-668.
48. Pepe G, Nistri S, Giusti B, et al. Identification of fibrillin 1 gene mutations in patients with bicuspid aortic valve (BAV) withoutMarfan syndrome. BMC Med Genet 2014; 15:23.
49. Qu XK, Qiu XB, Yuan F, et al. A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve. Am J Cardiol 2014; 114:1891-1895.
50. Padang R, Bagnall RD, Richmond DR, et al. Rare nonsynonymous variations in the transcriptional activation domains of GATA5 in bicuspid aortic valve disease. J Mol Cell Cardiol 2012; 53:277-281.
51. Bonachea EM, Chang SW, Zender G, et al. Rare GATA5 sequence variants identified in individuals with bicuspid aortic valve. Pediatr Res 2014; 76:211-216.
52. Tan HL, Glen E, Topf A, et al. Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation. Hum Mutat 2012; 33:720-727.
53. LaHaye S, Lincoln J, Garg V. Genetics of valvular heart disease. Curr Cardiol Rep 2014; 16:487.
54. Lee TC, Zhao YD, Courtman DW, Stewart DJ. Abnormal aortic valve development in mice lacking endothelial nitric oxide synthase. Circulation 2000; 101:2345-2348.
55. Thomas PS, Sridurongrit S, Ruiz-Lozano P, Kaartinen V. Deficient signaling via Alk2 (Acvr1) leads to bicuspid aortic valve development. PLoS One 2012; 7:e35539.
56. Foffa I, Murzi M, Mariani M, et al. Angiotensin-converting enzyme insertion/deletion polymorphism is a risk factor for thoracic aortic aneurysm in patients with bicuspid or tricuspid aortic valves. J Thorac Cardiovasc Surg 2012; 144:390-395.
57. Martín M, Pichel IA, Fló rez Muñ oz JP, et al. Low transcriptional activity haplotype of matrix metalloproteinase 1 is less frequent in bicuspid aortic valve patients. Gene 2013; 524:304-308.
58. Royer-Bertrand B, Rivolta C. Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer. Cell Mol Life Sci 2015; 72:1463-1471.
59. Ng SB, Buckingham KJ, Lee C, et al. Exome sequencing identifies the cause of a Mendelian disorder. Nat Genet 2010; 42:30-35.
60. Marian AJ. Challenges in medical applications of whole exome/genome sequencing discoveries. Trends Cardiovasc Med 2012; 22:219-223.
61. Altmü ller J, Budde BS, Nü rnberg P. Enrichment of target sequences for nextgeneration sequencing applications in research and diagnostics. Biol Chem 2014; 395:231-237.
62. Wooderchak-Donahue WL, O'Fallon B, Furtado LV, et al. A direct comparison of next generation sequencing enrichment methods using an aortopathy gene panel-clinical diagnostics perspective. BMC Med Genomics 2012; 5:50.
63. Martin LJ, Pilipenko V, Kaufman KM, et al. Whole exome sequencing for familial bicuspid aortic valve identifies putative variants. Circ Cardiovasc Genet 2014; 7:677-683.
64. Guo DC, Gong L, Regalado ES, et al. MAT2A mutations predispose individuals to thoracic aortic aneurysms. Am J Hum Genet 2015; 96:170-177.
65. Bonachea EM, Zender G, White P, et al. Use of a targeted, combinatorial nextgeneration sequencing approach for the study of bicuspid aortic valve. BMCMed Genomics 2014; 7:56.
66. Dargis N, Lamontagne M, Gaudreault N, et al. Identification of gender-specific genetic variants in patients with bicuspid aortic valve. Am J Cardiol 2016; 117:420-426.
67. Prakash S, Kuang SQ; GenTAC Registry Investigators. Recurrent rare genomic copy number variants and bicuspid aortic valve are enriched in early onset thoracic aortic aneurysms and dissections. PLoS One 2016; 11:e0153543.
68. Lewandowski SL, Janardhan HP, Trivedi CM. Histone deacetylase 3 coordinates deacetylase-independent epigenetic silencing of transforming growth factor-b1 (TGF-b1) to orchestrate second heart field development. J Biol Chem 2015; 290:27067-27068.
69. Serra-JuhéC, Cuscó I, Homs A, et al. DNA methylation abnormalities in congenital heart disease. Epigenetics 2015; 10:167-177.
70. Vecoli C, Pulignani S, Foffa I, Andreassi MG. Congenital heart disease: the crossroads of genetics, epigenetics and environment. Curr Genomics 2014; 15:390-399.
71. Chen LJ, Wei SY, Chiu JJ. Mechanical regulation of epigenetics in vascular biology and pathobiology. J Cell Mol Med 2013; 17:437-448.
72. Gomez D, Coyet A, Ollivier V, et al. Epigenetic control of vascular smooth muscle cells in Marfan and non-Marfan thoracic aortic aneurysms. Cardiovasc Res 2011; 89:446-455.
73. Nigam V, Sievers HH, Jensen BC, et al. Altered microRNAs in bicuspid aortic valve: a comparison between stenotic and insufficient valves. J Heart Valve Dis 2010; 19:459-465.
74. Jones JA, Stroud RE, O'Quinn EC, et al. Selective microRNA suppression in human thoracic aneurysms: relationship of miR-29a to aortic size and proteolytic induction. Circ Cardiovasc Genet 2011; 4:605-613.
75. Forte A, Galderisi U, Cipollaro M, et al. Epigenetic regulation of TGF-beta1 signaling in dilative aortopathy of thoracic ascending aorta. Clin Sci 2016; 130:1389-1405.