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. 1978 Dec;40(12):1402–1407. doi: 10.1136/hrt.40.12.1402

Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families.

R Emanuel, R Withers, K O'Brien, P Ross, O Feizi
PMCID: PMC483586  PMID: 737099

Abstract

The families of 41 patients with surgically proved isolated bicuspid aortic valves were examined. There were 275 first degree relatives of whom 220 were living, and 188 (85.5%) of these were examined. Seven first degree relatives were found to have aortic valve disease, and in a further 11 there was 'doubtful' evidence of bicuspid aortic valves. In 6 families there was more than 1 affected member and in an additional 7 families there was 1 or more 'doubtful' first degree relative. The minimum family incidence was therefore 14.6 per cent, or 31.7 per cent if 'doubtful' cases were included. The inheritance is most probably multifactorial, but occasionally the condition may occur as an autosomal dominant. The difficulties of diagnosing bicuspid aortic valves before the development of obstruction of left ventricular outflow were encountered and are discussed. The association of a bicuspid aortic valve with asymmetric septal hypertrophy, hypertrophic cardiomyopathy, and Marfan's syndrome was also noted.

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Selected References

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  1. Anders J. M., Moores E. C., Emanuel R. Chromosome studies in 156 patients with congenital heart disease. Br Heart J. 1965 Sep;27(5):756–762. doi: 10.1136/hrt.27.5.756. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. BACON A. P., MATTHEWS M. B. Congenital bicuspid aortic valves and the aetiology of isolated aortic valvular stenosis. Q J Med. 1959 Oct;28:545–560. [PubMed] [Google Scholar]
  3. BRAUNWALD E., GOLDBLATT A., AYGEN M. M., ROCKOFF S. D., MORROW A. G. Congenital aortic stenosis. I. Clinical and hemodynamic findings in 100 patients. II. Surgical treatment and the results of operation. Circulation. 1963 Mar;27:426–462. doi: 10.1161/01.cir.27.3.426. [DOI] [PubMed] [Google Scholar]
  4. Bound J. P., Logan W. F. Incidence of congenital heart disease in Blackpool 1957-1971. Br Heart J. 1977 Apr;39(4):445–450. doi: 10.1136/hrt.39.4.445. [DOI] [PMC free article] [PubMed] [Google Scholar]
  5. Bulkley B. H. Idiopathic hypertrophic subaortic stenosis afflicted: idols of the cave and the marketplace. Am J Cardiol. 1977 Sep;40(3):476–479. doi: 10.1016/0002-9149(77)90176-x. [DOI] [PubMed] [Google Scholar]
  6. CAMPBELL M., KAUNTZE R. Congenital aortic valvular stenosis. Br Heart J. 1953 Apr;15(2):179–194. doi: 10.1136/hrt.15.2.179. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. CARTER C. O. The inheritance of congenital pyloric stenosis. Br Med Bull. 1961 Sep;17:251–254. doi: 10.1093/oxfordjournals.bmb.a069918. [DOI] [PubMed] [Google Scholar]
  8. Carter C. O. Genetics of common single malformations. Br Med Bull. 1976 Jan;32(1):21–26. doi: 10.1093/oxfordjournals.bmb.a071318. [DOI] [PubMed] [Google Scholar]
  9. Emanuel R. Genetics and congenital heart disease. Br Heart J. 1970 May;32(3):281–291. doi: 10.1136/hrt.32.3.281. [DOI] [PMC free article] [PubMed] [Google Scholar]
  10. Emanuel R., Ng R. A., Marcomichelakis J., Moores E. C., Jefferson K. E., MacFaul P. A., Withers R. Formes frustes of Marfan's syndrome presenting with severe aortic regurgitation. Clinicogenetic study of 18 families. Br Heart J. 1977 Feb;39(2):190–197. doi: 10.1136/hrt.39.2.190. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Emanuel R., Nichols J., Anders J. M., Moores E. C., Somerville J. Atrioventricular defects--a study of 92 families. Br Heart J. 1968 Sep;30(5):645–653. doi: 10.1136/hrt.30.5.645. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Emanuel R., O'Brien K., Somerville J., Jefferson K., Hegde M. Association of secundum atrial septal defect with abnormalities of atrioventricular conduction or left axis deviation. Genetic study of 10 families. Br Heart J. 1975 Oct;37(10):1085–1092. doi: 10.1136/hrt.37.10.1085. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Emanuel R., Withers R., O'Brien K. Dominant and recessive modes of inheritance in idiopathic cardiomyopathy. Lancet. 1971 Nov 13;2(7733):1065–1067. doi: 10.1016/s0140-6736(71)90383-7. [DOI] [PubMed] [Google Scholar]
  14. Feizi O., Emanuel R. Echocardiographic spectrum of hypertrophic cardiomyopathy. Br Heart J. 1975 Dec;37(12):1286–1302. doi: 10.1136/hrt.37.12.1286. [DOI] [PMC free article] [PubMed] [Google Scholar]
  15. GORDON A. S. The surgical management of congenital supravalvular, valvular, and subvalvular aortic stenosis using deep hypothermia. J Thorac Cardiovasc Surg. 1962 Feb;43:141–156. [PubMed] [Google Scholar]
  16. Leatham A., Mills P., Leech G., Davis M. Proceedings: Diagnosis and prognosis of bicuspid non-stenotic aortic valve. Br Heart J. 1975 Jul;37(7):781–781. [PubMed] [Google Scholar]
  17. Lindesmith G. G., Fyler D. C., Meyer B. W., Jones J. C. Congenital valvular aortic stenosis. An evaluation of surgical experience. Ann Thorac Surg. 1967 May;3(5):406–413. doi: 10.1016/s0003-4975(10)66446-6. [DOI] [PubMed] [Google Scholar]
  18. Mitchell S. C., Sellmann A. H., Westphal M. C., Park J. Etiologic correlates in a study of congenital heart disease in 56,109 births. Am J Cardiol. 1971 Dec;28(6):653–657. doi: 10.1016/0002-9149(71)90053-1. [DOI] [PubMed] [Google Scholar]
  19. Nanda N. C., Gramiak R., Manning J., Mahoney E. B., Lipchik E. O., DeWeese J. A. Echocardiographic recognition of the congenital bicuspid aortic valve. Circulation. 1974 May;49(5):870–875. doi: 10.1161/01.cir.49.5.870. [DOI] [PubMed] [Google Scholar]
  20. Parker D. P., Kaplan M. A., Connolly J. E. Coexistent aortic valvular and functional hypertrophic subaortic stenosis. Clinical , physiologic and angiographic aspects. Am J Cardiol. 1969 Sep;24(3):307–317. doi: 10.1016/0002-9149(69)90423-8. [DOI] [PubMed] [Google Scholar]
  21. Radford D. J., Bloom K. R., Izukawa T., Moes C. A., Rowe R. D. Echocardiographic assessment of bicuspid aortic valves. Angiographic and pathological correlates. Circulation. 1976 Jan;53(1):80–85. doi: 10.1161/01.cir.53.1.80. [DOI] [PubMed] [Google Scholar]
  22. Roberts W. C. The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol. 1970 Jul;26(1):72–83. doi: 10.1016/0002-9149(70)90761-7. [DOI] [PubMed] [Google Scholar]
  23. SMITH D. E., MATTHEWS M. B. Aortic valvular stenosis with coarctation of the aorta, with special reference to the development of aortic stenosis upon congenital bicuspid valves. Br Heart J. 1955 Apr;17(2):198–206. doi: 10.1136/hrt.17.2.198. [DOI] [PMC free article] [PubMed] [Google Scholar]
  24. SPENCER F. C., NEILL C. A., SANK L., BAHNSON H. T. Anatomical variations in 46 patients with congenital aortic stenosis. Am Surg. 1960 Apr;26:204–216. [PubMed] [Google Scholar]
  25. Somerville J., McDonald L. Congenital anomalies in the heart with hypertrophic cardiomyopathy. Br Heart J. 1968 Sep;30(5):713–722. doi: 10.1136/hrt.30.5.713. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Vollebergh F. E., Becker A. E. Minor congenital variations of cusp size in tricuspid aortic valves. Possible link with isolated aortic stenosis. Br Heart J. 1977 Sep;39(9):1006–1011. doi: 10.1136/hrt.39.9.1006. [DOI] [PMC free article] [PubMed] [Google Scholar]

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