Congenital heart diseases in small animals: Part II. Potential genetic aetiologies based on human genetic studies

Veterinary Journal

Volumn 171, Issue 2, 2006, Pages 256-262

  Hyun, Changbaig ^a,b   Park, In Chul ^b  

^a ST VINCENT S HOSPITAL   (Australia)

^b Kangwon National University   (South Korea)

Author keywords

Cat; Congenital heart disease; Dog; Gene mutation; Genetic aetiology

Indexed keywords

ACTIVIN; EPIDERMAL GROWTH FACTOR RECEPTOR; JAGGED1; TRANSCRIPTION FACTOR GATA 4; TRANSCRIPTION FACTOR PITX2;

ANIMAL DISEASE; AORTA STENOSIS; CAT DISEASE; CLINICAL FEATURE; CONGENITAL HEART DISEASE; CORRELATION ANALYSIS; DISEASE COURSE; DOG DISEASE; FALLOT TETRALOGY; GENE DELETION; GENE EXPRESSION PROFILING; GENE FUNCTION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENE TARGETING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; MEDICAL RESEARCH; MITRAL VALVE DISEASE; MUTATIONAL ANALYSIS; NONHUMAN; PATHOGENESIS; PULMONARY ARTERY STENOSIS; REVIEW; RISK ASSESSMENT; TRICUSPID VALVE DISEASE; VETERINARY MEDICINE; X CHROMOSOME LINKAGE;

ANIMALIA; CANIS FAMILIARIS;

EID: 32944463033     PISSN: 10900233     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.tvjl.2005.02.007     Document Type: Article

References (47)

1. D. Alagille M. Odievre M. Gautier J.P. Dommergues Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur Journal of Pediatrics 86 1975 63-71
2. J.E. Allanson Noonan syndrome Journal of Medical Genetics 24 1987 9-13
3. G. Andelfinger K.N. Wright H.S. Lee L.M. Siemens D.W. Benson Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9 Journal of Medical Genetics 40 2003 320-324
4. P.G. Barth J.A. Scholte J.A. Berden Van der Klei-Van J.M. Moorsel I.E. Luyt-Houwen E.T. Van't Veer-Korthof J.J. Van der Harten M.A. Sobotka-Plojhar An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes Journal of Neurological Science 62 1983 327-355
5. C.T. Basson D.R. Bachinsky R.C. Lin D.R. Bachinsky S. Weremowicz A. Vaglio R. Bruzzone R. Quadrelli M. Lerone G. Romeo M. Silengo A. Pereira J. Krieger S.F. Mesquita M. Kamisago C.C. Morton M.E. Pierpont C.W. Muller J.G Seidman C.E. Seidman Mutations in human cause limb and cardiac malformation in Holt-Oram syndrome Nature Genetics 15 1997 30-35
6. Brown, W.A., 1995. Ventricular septal defects in the English springer spaniel. In: Bonagura, J.D., Kirk, R.W. (Eds.), Kirk's Current Veterinary Therapy, Small Animal Practice, WB Saunders, Philadelphia, pp. 321-327.
7. M.E. Brickner D. Hillis R.A. Lange Congenital heart disease in adult, First of two parts New England Journal of Medicine 342 2000 256-263
8. M.E. Brickner D. Hillis R.A. Lange Congenital heart disease in adult, Second of two parts New England Journal of Medicine 342 2000 334-342
9. J.W. Buchanan Pulmonic stenosis caused by single coronary artery in dogs: Four cases (1965-1984) Journal of American Veterinary Medical Association 196 1990 115-120
10. J.W. Buchanan Causes and prevalence of cardiovascular disease R.W. Kirk J.D. Bonagura Current veterinary therapy XI 1992 WB Saunders Philadelphia 444-447
11. J.W. Buchanan Pathogenesis of single right coronary artery and pulmonic stenosis in English Bulldogs Journal of Veterinary Internal Medicine 15 2001 101-104
12. M. Bush D.R. Pieroni D.G. Goodman R.I. White V. Thomas A.E. James Jr. Tetralogy of Fallot in cat Journal of American Veterinary Medical Association 160 1972 1679-1686
13. P. de Lonlay-Debeney M.C. de Blois D. Bonnet J. Amiel V. Abadie M. Picq S. Lyonnet D. Sidi A. Munnich M. Vekemans V. Cormier-Daire Ebstein anomaly associated with rearrangements of chromosomal region 11q American Journal of Medical Genetics 80 1998 157-159
14. Z.A. Eldadah A. Hamosh N.J. Biery R.A. Montgomery M. Duke R. Elkins H.C. Dietz Familial Tetralogy of Fallot caused by mutation in the Jagged1 gene Human Molecular Genetics 10 2001 163-169
15. A.K. Ewart C.A. Morris D. Atkinson W. Jin K. Sternes P. Spallone A.D. Stock M. Leppert M.T. Keating Hemizygosity at the elastin locus in a developmental disorder, Williams syndrome Nature Genetics 5 1993 11-16
16. V. Garg I.S. Kathiriya R. Barnes M.K. Schluterman I.N. King C.A. Butler C.R. Rothrock R.S. Eapen K. Hirayama-Yamada K. Joo R. Matsuoka J.C. Cohen D. Srivastava GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5 Nature 424 2003 443-447
17. E. Goldmuntz E. Geiger D.W. Benson NKX2.5 mutations in patients with tetralogy of Fallot Circulation 104 2001 2565-2568
18. Harpster, N.K., Jones, C.L., 1991. Genes and the heart, congenital heart disease. In: Proceedings of Academy of Veterinary Cardiology 13, pp. 122-125.
19. J.I. Hoffman Congenital heart disease, incidence and inheritance Pediatric Clinics in North America 37 1990 25-43
20. J.I Hoffman S. Kaplan The incidence of congenital heart disease Journal of American College of Cardiology 39 2002 1890-1900
21. C. Hoogenraad B. Koekkoek A. Akhmanova H. Krugers B. Dortland M. Miedema A. van Alphen W.M. Kistler M. Jaegle M. Koutsourakis N. Van Camp M. Verhoye A. van der Linden I. Kaverina F. Grosveld C.I. De Zeeuw N. Galjart Targeted mutation of Cyln2 in the Williams syndrome critical region links CLIP-115 haploinsufficiency to neurodevelopmental abnormalities in mice Nature Genetics 32 2002 116-127
22. C. Hyun Congenital heart diseases in small animals Journal of Korean Veterinary Medical Association 39 2003 897-917
23. Hyun, C., Kirk, E., Fatklin, D., Fenley, M., Harvey, R.P., 2004. Human GATA4 mutation affecting cardiac atrial septal morphology and risk of ischaemic stroke In: Proceedings of the 14th St. Vincents and Mater Health Sydney Research Symposium, Sydneym, Australia, p. 19.
24. Hyun, C., Lavulo, L. Congenital heart disease in small animals: Part I. Genetic pathways and potential candidate genes. The Veterinary Journal (in press).
25. R.D. Kienle W.P. Thomas P.D. Pion The natural clinical history of canine congenital subaortic stenosis Journal of Veterinary Internal Medicine 8 1994 423-431
26. M.K. Kittleson R.D. Kienle Small animal cardiovascular medicine 1998 St. Louis Mosby 218-296
27. J. Korenberg C. Bradley C. Disteche Down syndrome, molecular mapping of congenital heart disease and duodenal stenosis American Journal of Human Genetics 50 1992 294-302
28. A. Kumar B.E. Victorica I.H. Gessner J.A. Alexander Tricuspid atresia and annular hypoplasia: Report of a familial occurrence Pediatrics Cardiology 15 1994 201-203
29. F. Kyndt J.J. Schott J.N. Trochu F. Baranger O. Herbert V. Scott E. Fressinaud A. David J.P. Moisan J.B. Bouhour H. Le Marec B. Benichou Mapping of X-linked myxomatous valvular dystrophy to chromosome Xq28 American Journal of Human Genetics 62 1998 627-632
30. L. Li I.D. Krantz Y. Deng A. Genin A.B. Banta C.C. Collins M. Qi B.J. Trask W.L. Kuo J. Cochran T. Costa M.E. Pierpont E.B. Rand D.A. Piccoli L. Hood N.B. Spinner Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1 Nature Genetics 16 1997 243-251
31. S.K. Liu L.P. Tilley Malformation of mitral valve complex Journal of American Veterinary Medical Association 167 1975 465
32. S.K. Liu L.P. Tilley Dysplasia of the tricuspid valve in the dog and cat Journal of American Veterinary Medical Association 169 1976 623-630
33. C.A. Loffredo Epidemiology of cardiovascular malformation, prevalence and risk factors Seminars in Medical Genetics 97 2000 319-325
34. R. Malik D.B. Church G.B. Hunt Valvular pulmonic stenosis in Bull Mastiffs Journal of Small Animal Practice 34 1988 288
35. R.S. Mathias R.V. Lacro K.L. Jones X-linked laterality sequence, situs inversus, complex cardiac defects, splenic defects American Journal of Medical Genetics 28 1987 111-116
36. A.P. Monaco Human genetics, dissecting Williams syndrome Current Biology 6 1996 1396-1398
37. J.J. Mulvihill W.A. Priester Congenital heart disease in dogs, epidemiologic similarities to man Tetralogy 7 1973 73-77
38. R.A. Newbury-Ecob J.M. Zuccollo N. Rutter I.D. Young Sex linked valvular dysplasia Journal of Medical Genetics 30 1993 873-874
39. D. Ng N. Thakker C.M. Corcoran D. Donnai R. Perveen A. Schneider D.W. Hadley C. Tifft L. Zhang A.O. Wilkie J.J. van der Smagt R.J. Gorlin S.M. Burgess V.J. Bardwell G.C. Black L.G. Biesecker Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR Nature Genetics 36 2004 411-416
40. T. Oda A.G. Elkahloun P.S. Meltzer S.C. Chandrasekharappa Identification and cloning of the human homologue (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12 Genomics 43 1997 376-379
41. E.N Olson D. Strivastava Molecular pathways controlling heart development Science 1272 1996 671-675
42. D.F. Patterson Epidemiology and genetic status of congenital heart disease in dog Circulation Research 23 1968 171-202
43. D.F. Patterson R.L. Pyle L. Van Mierop J. Melbin M. Olson Hereditary defects of the conotruncal septum in Keeshond dogs, pathologic and genetic studies American Journal of Cardiology 34 1974 187-205
44. A. Pizzuti A. Sarkozy A.L. Newton E. Conti E. Flex M.C. Digilio F. Amati D. Gianni C. Tandoi B. Marino M. Crossley B. Dallapiccola Mutations of ZFPM2/FOG2 gene in sporadic cases of tetralogy of Fallot Human Mutation 22 2003 372-377
45. J.J. Schott D.W. Benson C.T. Basson W. Pease G.M. Silberbach J.P. Moak B.J. Maron C.E. Seidman J.G. Seidman Congenital heart disease caused by mutations in the transcription factor NKX2-5 Science 281 1998 108-111
46. D. Srivastava E.N. Olson A genetic blueprint for cardiac development Nature 407 2000 221-225
47. D.I. Wilson I.E. Cross J.A. Goodship S. Coulthard A.H. Carey P.J. Scambler H.H. Bain A.S. Hunter P.E. Carter J. Burn DiGeorge syndrome with isolated aortic coarctation and isolated ventricular septal defect in three sibs with a 22q11 deletion of maternal origin British Heart Journal 66 1991 308-312