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Br Heart J. 1978 December; 40(12): 1402–1407.
PMCID: PMC483586

Congenitally bicuspid aortic valves. Clinicogenetic study of 41 families.


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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  • Anders JM, Moores EC, Emanuel R. Chromosome studies in 156 patients with congenital heart disease. Br Heart J. 1965 Sep;27(5):756–762. [PMC free article] [PubMed]
  • BACON AP, MATTHEWS MB. Congenital bicuspid aortic valves and the aetiology of isolated aortic valvular stenosis. Q J Med. 1959 Oct;28:545–560. [PubMed]
  • Bound JP, Logan WF. Incidence of congenital heart disease in Blackpool 1957-1971. Br Heart J. 1977 Apr;39(4):445–450. [PMC free article] [PubMed]
  • BRAUNWALD E, GOLDBLATT A, AYGEN MM, ROCKOFF SD, MORROW AG. 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. [PubMed]
  • Bulkley BH. Idiopathic hypertrophic subaortic stenosis afflicted: idols of the cave and the marketplace. Am J Cardiol. 1977 Sep;40(3):476–479. [PubMed]
  • CAMPBELL M, KAUNTZE R. Congenital aortic valvular stenosis. Br Heart J. 1953 Apr;15(2):179–194. [PMC free article] [PubMed]
  • CARTER CO. The inheritance of congenital pyloric stenosis. Br Med Bull. 1961 Sep;17:251–254. [PubMed]
  • Carter CO. Genetics of common single malformations. Br Med Bull. 1976 Jan;32(1):21–26. [PubMed]
  • Emanuel R. Genetics and congenital heart disease. Br Heart J. 1970 May;32(3):281–291. [PMC free article] [PubMed]
  • Emanuel R, Ng RA, Marcomichelakis J, Moores EC, Jefferson KE, MacFaul PA, 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. [PMC free article] [PubMed]
  • Emanuel R, Nichols J, Anders JM, Moores EC, Somerville J. Atrioventricular defects--a study of 92 families. Br Heart J. 1968 Sep;30(5):645–653. [PMC free article] [PubMed]
  • 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. [PMC free article] [PubMed]
  • Emanuel R, Withers R, O'Brien K. Dominant and recessive modes of inheritance in idiopathic cardiomyopathy. Lancet. 1971 Nov 13;2(7733):1065–1067. [PubMed]
  • Feizi O, Emanuel R. Echocardiographic spectrum of hypertrophic cardiomyopathy. Br Heart J. 1975 Dec;37(12):1286–1302. [PMC free article] [PubMed]
  • GORDON AS. The surgical management of congenital supravalvular, valvular, and subvalvular aortic stenosis using deep hypothermia. J Thorac Cardiovasc Surg. 1962 Feb;43:141–156. [PubMed]
  • 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]
  • Lindesmith GG, Fyler DC, Meyer BW, Jones JC. Congenital valvular aortic stenosis. An evaluation of surgical experience. Ann Thorac Surg. 1967 May;3(5):406–413. [PubMed]
  • Mitchell SC, Sellmann AH, Westphal MC, Park J. Etiologic correlates in a study of congenital heart disease in 56,109 births. Am J Cardiol. 1971 Dec;28(6):653–657. [PubMed]
  • Nanda NC, Gramiak R, Manning J, Mahoney EB, Lipchik EO, DeWeese JA. Echocardiographic recognition of the congenital bicuspid aortic valve. Circulation. 1974 May;49(5):870–875. [PubMed]
  • Parker DP, Kaplan MA, Connolly JE. Coexistent aortic valvular and functional hypertrophic subaortic stenosis. Clinical , physiologic and angiographic aspects. Am J Cardiol. 1969 Sep;24(3):307–317. [PubMed]
  • Radford DJ, Bloom KR, Izukawa T, Moes CA, Rowe RD. Echocardiographic assessment of bicuspid aortic valves. Angiographic and pathological correlates. Circulation. 1976 Jan;53(1):80–85. [PubMed]
  • Roberts WC. The congenitally bicuspid aortic valve. A study of 85 autopsy cases. Am J Cardiol. 1970 Jul;26(1):72–83. [PubMed]
  • SMITH DE, MATTHEWS MB. 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. [PMC free article] [PubMed]
  • Somerville J, McDonald L. Congenital anomalies in the heart with hypertrophic cardiomyopathy. Br Heart J. 1968 Sep;30(5):713–722. [PMC free article] [PubMed]
  • SPENCER FC, NEILL CA, SANK L, BAHNSON HT. Anatomical variations in 46 patients with congenital aortic stenosis. Am Surg. 1960 Apr;26:204–216. [PubMed]
  • Vollebergh FE, Becker AE. 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. [PMC free article] [PubMed]

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