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. 1977 Feb;39(2):190–197. doi: 10.1136/hrt.39.2.190

Formes frustes of Marfan's syndrome presenting with severe aortic regurgitation. Clinicogenetic study of 18 families.

R Emanuel, R A Ng, J Marcomichelakis, E C Moores, K E Jefferson, P A MacFaul, R Withers
PMCID: PMC483215  PMID: 836734

Abstract

Eighteen patients who presented with severe aortic regurgitation and dilatation of the ascending aorta were found to be formes frustes of Marfan's syndrome and formed the basis for this clinicogenetic study. All had aortic valve replacement and reconstruction of part of the ascending aorta. The diagnosis was confirmed by histological examination of the aortic tissue. There were 126 first degree relatives; 85 were living and 67 (78-8%) of these were examined. Limited information was available about 32 of the 41 relatives who had died. No relative had the classical clinical features of Marfan's syndrome but stigmata of the disease were found in 25 (37-3%) of the 67 first degree relatives examined. In 21, the abnormality was confined to the cardiovascular system, the skeleton, or the eye, but in 4, abnormalities involved 2 systems. Cardiovascular abnormalities affecting the aortic valve or aortic wall were present in 6 (9-0%) of the 67 first degree relatives examined. One or more of the skeletal indices measured (height-span difference, metacarpal index, phalangeal index) was abnormal in 18 (26-9%) and ocular abnormalities were found in 5 of 51 (9-8%) examined. There were no relatives with dislocation of the lens or iridodonesis. Using strict diagnostic criteria, a minimum of 37-3 per cent of the first degree relatives examined were affected; this involved 12 of the 18 families studied. There was nothing in our data to suggest that the formes frustes of the disease had a different mode of inheritance from the classical syndrome.

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Selected References

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  1. ANDERSON M., PRATT-THOMAS H. R. Marfan's syndrome. Am Heart J. 1953 Dec;46(6):911–917. doi: 10.1016/0002-8703(53)90090-8. [DOI] [PubMed] [Google Scholar]
  2. BOWERS D. Marfan's syndrome and the Weill-Marchesani syndrome in the S. family. Ann Intern Med. 1959 Nov;51:1049–1070. doi: 10.7326/0003-4819-51-5-1049. [DOI] [PubMed] [Google Scholar]
  3. Becker A. E., van Mantgem J. P. The coronary arteries in Marfan's syndrome. A morphologic study. Am J Cardiol. 1975 Sep;36(3):315–321. doi: 10.1016/0002-9149(75)90482-8. [DOI] [PubMed] [Google Scholar]
  4. Bon Tempo C. P., Ronan J. A., Jr, de Leon A. C., Jr, Twigg H. L. Radiographic appearance of the thorax in systolic click-late systolic murmur syndrome. Am J Cardiol. 1975 Jul;36(1):27–31. doi: 10.1016/0002-9149(75)90863-2. [DOI] [PubMed] [Google Scholar]
  5. Bowers D. Pathogenesis of primary abnormalities of the mitral valve in Marfan's syndrome. Br Heart J. 1969 Nov;31(6):679–683. doi: 10.1136/hrt.31.6.679. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. ELDRIDGE R. COARCTATION IN THE MARFAN SYNDROME. Arch Intern Med. 1964 Mar;113:342–349. doi: 10.1001/archinte.1964.00280090028005. [DOI] [PubMed] [Google Scholar]
  7. ELDRIDGE R. THE METACARPAL INDEX. A USEFUL AID IN THE DIAGNOSIS OF THE MARFAN SYNDROME. Arch Intern Med. 1964 Feb;113:248–254. doi: 10.1001/archinte.1964.00280080084016. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. 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]
  10. 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]
  11. Halpern B. L., Char F., Murdoch J. L., Horton W. B., McKusick V. A. A prospectus on the prevention of aortic rupture in the Marfan syndrome with data on survivorship without treatment. Johns Hopkins Med J. 1971 Sep;129(3):123–129. [PubMed] [Google Scholar]
  12. Hirst A. E., Jr, Gore I. Marfan's syndrome: a review. Prog Cardiovasc Dis. 1973 Sep-Oct;16(2):187–198. doi: 10.1016/s0033-0620(73)80013-1. [DOI] [PubMed] [Google Scholar]
  13. McKUSICK V. A. The cardiovascular aspects of Marfan's syndrome: a heritable disorder of connective tissue. Circulation. 1955 Mar;11(3):321–342. doi: 10.1161/01.cir.11.3.321. [DOI] [PubMed] [Google Scholar]
  14. Murdoch J. L., Walker B. A., Halpern B. L., Kuzma J. W., McKusick V. A. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med. 1972 Apr 13;286(15):804–808. doi: 10.1056/NEJM197204132861502. [DOI] [PubMed] [Google Scholar]
  15. Nasrallah A. T., Cooley D. A., Goussous Y., Hallman G. L., Lufschanowski R., Leachman R. D. Surgical experience in patients with Marfan's syndrome, ascending aortic aneurysm and aortic regurgitation. Am J Cardiol. 1975 Sep;36(3):338–341. doi: 10.1016/0002-9149(75)90485-3. [DOI] [PubMed] [Google Scholar]
  16. PAPAIOANNOU A. C., AGUSTSSON M. H., GASUL B. M. Early manifestations of the cardiovascular disorders in Marfan syndrome. Pediatrics. 1961 Feb;27:255–268. [PubMed] [Google Scholar]
  17. PARISH J. G. Skeletal syndromes associated with arachnodactyly. Proc R Soc Med. 1960 Jul;53:515–518. [PubMed] [Google Scholar]
  18. Read R. C., Thal A. P., Wendt V. E. Symptomatic valvular myxomatous transformation (the floppy valve syndrome). A possible forme fruste of the Marfan syndrome. Circulation. 1965 Dec;32(6):897–910. doi: 10.1161/01.cir.32.6.897. [DOI] [PubMed] [Google Scholar]
  19. SIMON A. L., HIPONA F. A., STANSEL H. C. DISSECTING AORTIC ANEURYSM IN MARFAN'S SYNDROME. JAMA. 1965 Jul 12;193:156–158. doi: 10.1001/jama.1965.03090020070023. [DOI] [PubMed] [Google Scholar]
  20. SINCLAIR R. J. The Marfan syndrome. Bull Rheum Dis. 1958 Jan;8(5):153–154. [PubMed] [Google Scholar]
  21. STEINBERG I., MANGIARDI J. L., NOBLE W. J. Aneurysmal dilatation of the aortic sinuses in Marfan's syndrome; angiocardiographic and cardiac catheterization studies in identical twins. Circulation. 1957 Sep;16(3):368–373. doi: 10.1161/01.cir.16.3.368. [DOI] [PubMed] [Google Scholar]
  22. Salomon J., Shah P. M., Heinle R. A. Thoracic skeletal abnormalities in idiopathic mitral valve prolapse. Am J Cardiol. 1975 Jul;36(1):32–36. doi: 10.1016/0002-9149(75)90864-4. [DOI] [PubMed] [Google Scholar]
  23. Shankar K. R., Hultgren M. K., Lauer R. M., Diehl A. M. Lethal tricuspid and mitral regurgitation in Marfan's syndrome. Am J Cardiol. 1967 Jul;20(1):122–127. doi: 10.1016/0002-9149(67)90117-8. [DOI] [PubMed] [Google Scholar]
  24. Sherman E. B., Char F., Dungan W. T., Campbell G. S. Myxomatous transformation of the mitral valve producing mitral insufficiency. Floppy valve syndrome. Am J Dis Child. 1970 Feb;119(2):171–175. doi: 10.1001/archpedi.1970.02100050173019. [DOI] [PubMed] [Google Scholar]
  25. Soman V. R., Breton G., Hershkowitz M., Mark H. Bacterial endocarditis of mitral valve in Marfan syndrome. Br Heart J. 1974 Dec;36(12):1247–1250. doi: 10.1136/hrt.36.12.1247. [DOI] [PMC free article] [PubMed] [Google Scholar]
  26. Symbas P. N., Baldwin B. J., Silverman M. E., Galambos J. T. Marfan's syndrome with aneurysm of ascending aorta and aortic regurgitation. Surgical treatment and new histochemical observations. Am J Cardiol. 1970 Apr;25(4):483–489. doi: 10.1016/0002-9149(70)90018-4. [DOI] [PubMed] [Google Scholar]
  27. TOLBERT L. E., Jr, BIRCHALL R. B. Marfan's syndrome with interventricular septal defect found at autopsy. Ochsner Clin Rep. 1956 Jul;2(2):48–56. [PubMed] [Google Scholar]
  28. Twigg H. L., De Leon A., Perloff J. K., Maid M. The straight-back syndrome: radiographic manifestations. Radiology. 1967 Feb;88(2):274–277. doi: 10.1148/88.2.274. [DOI] [PubMed] [Google Scholar]
  29. WHEAT M. W., Jr, PALMER R. F., BARTLEY T. D., SEELMAN R. C. TREATMENT OF DISSECTING ANEURYSMS OF THE AORTA WITHOUT SURGERY. J Thorac Cardiovasc Surg. 1965 Sep;50:364–373. [PubMed] [Google Scholar]
  30. WILNER H. I., FINBY N. SKELETAL MANIFESTATIONS IN THE MARFAN SYNDROME. JAMA. 1964 Feb 15;187:490–495. doi: 10.1001/jama.1964.03060200022003. [DOI] [PubMed] [Google Scholar]

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