Skip to main content
NCBI home page
British Heart Journal logoLink to British Heart Journal
. 1984 Feb;51(2):220–230. doi: 10.1136/hrt.51.2.220

Cardiac, skeletal, and ocular abnormalities in patients with Marfan's syndrome and in their relatives. Comparison with the cardiac abnormalities in patients with kyphoscoliosis.

L Bruno, S Tredici, M Mangiavacchi, V Colombo, G F Mazzotta, C R Sirtori
PMCID: PMC481487  PMID: 6691872

Abstract

Polygraphic (including apexcardiograms and carotid pulse tracings) and M mode echocardiographic examinations were carried out in 34 symptomatic patients with Marfan's syndrome; similar studies were performed in 32 relatives and in 34 young patients with kyphoscoliotic disease. The purpose of these investigations was to determine the association between cardiac and oculoskeletal abnormalities and to identify specific patterns of disease with a poor prognosis. Polygraphic tests showed significant changes in all patients with Marfan's syndrome: 74% showed the apical systolic click and murmur of mitral valve prolapse; 48% had the diastolic murmur of aortic regurgitation; isolated mitral valve prolapse was found in 52%, 26% had isolated aortic regurgitation, and 22% had a combination of the two. Echocardiographic changes were also found in all patients: 79% had aortic root dilatation; 48% fluttering of the anterior mitral leaflet; 79% mitral valve prolapse, mostly pansystolic; 34% both mitral prolapse and aortic root dilatation; and 34% left ventricular dilatation. The severities of the cardiac and oculoskeletal abnormalities were not correlated. The high prevalence of mitral valve prolapse found in these patients, which did not vary with age or sex, was also present in their relatives: mitral prolapse was present in 38% and aortic dilatation, with or without regurgitation, in 14%. Four of the relatives had clearcut Marfan's syndrome, and at least four others a forme fruste. The metacarpal index was abnormal in 41% of the relatives; ocular abnormalities were rare. In kyphoscoliotic patients only an increase in the prevalence of mitral prolapse (18.2% in women, none in men) was found. These findings underline a complex pattern of association between cardiac, ocular, and skeletal abnormalities in patients with Marfan's syndrome and confirm an appreciable inheritability of several of the markers of the disease.

Full text

PDF
220

Images in this article

225Image
on p.225
225Image
on p.225
226Image
on p.226
226Image
on p.226
227Image
on p.227

Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Asin Cardiel E., Molinero F., Yuste P., Menárguez L. Valor de la ecocardiografía en el síndrome de Marfán. Rev Esp Cardiol. 1978;31(2):259–264. [PubMed] [Google Scholar]
  2. Atsuchi Y., Nagai Y., Komatsu Y., Nakamura K., Shibuya M., Hirosawa K. Echocardiographic manifestation of annuloaortic ectasia: its "paradoxical" motion of the aorta and premature systolic closure of the aortic vale. Am Heart J. 1977 Apr;93(4):428–433. doi: 10.1016/s0002-8703(77)80404-3. [DOI] [PubMed] [Google Scholar]
  3. Brown O. R., DeMots H., Kloster F. E., Roberts A., Menashe V. D., Beals R. K. Aortic root dilatation and mitral valve prolapse in Marfan's syndrome: an ECHOCARDIOgraphic study. Circulation. 1975 Oct;52(4):651–657. doi: 10.1161/01.cir.52.4.651. [DOI] [PubMed] [Google Scholar]
  4. Cross H. E., Jensen A. D. Ocular manifestations in the Marfan syndrome and homocystinuria. Am J Ophthalmol. 1973 Mar;75(3):405–420. doi: 10.1016/0002-9394(73)91149-5. [DOI] [PubMed] [Google Scholar]
  5. 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]
  6. 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]
  7. Markiewicz W., Stoner J., London E., Hunt S. A., Popp R. L. Mitral valve prolapse in one hundred presumably healthy young females. Circulation. 1976 Mar;53(3):464–473. doi: 10.1161/01.cir.53.3.464. [DOI] [PubMed] [Google Scholar]
  8. 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]
  9. Moothart R. W., Spangler R. D., Blount S. G., Jr Echocardiography in aortic root dissection and dilatation. Am J Cardiol. 1975 Jul;36(1):11–16. doi: 10.1016/0002-9149(75)90860-7. [DOI] [PubMed] [Google Scholar]
  10. 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]
  11. Nanda N. C., Gramiak R., Shah P. M. Diagnosis of aortic root dissection by echocardiography. Circulation. 1973 Sep;48(3):506–513. doi: 10.1161/01.cir.48.3.506. [DOI] [PubMed] [Google Scholar]
  12. 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]
  13. Payvandi M. N., Kerber R. E., Phelps C. D., Judisch G. F., El-Khoury G., Schrott H. G. Cardiac, skeletal and ophthalmologic abnormalities in relatives of patients with the Marfan syndrome. Circulation. 1977 May;55(5):797–802. doi: 10.1161/01.cir.55.5.797. [DOI] [PubMed] [Google Scholar]
  14. Phornphutkul C., Rosenthal A., Nadas A. S. Cardiac manifestations of Marfan syndrome in infancy and childhood. Circulation. 1973 Mar;47(3):587–596. doi: 10.1161/01.cir.47.3.587. [DOI] [PubMed] [Google Scholar]
  15. Procacci P. M., Savran S. V., Schreiter S. L., Bryson A. L. Prevalence of clinical mitral-valve prolapse in 1169 young women. N Engl J Med. 1976 May 13;294(20):1086–1088. doi: 10.1056/NEJM197605132942004. [DOI] [PubMed] [Google Scholar]
  16. Rovelli F. Il prolasso della mitrale. G Ital Cardiol. 1976;6(2):181–184. [PubMed] [Google Scholar]

Articles from British Heart Journal are provided here courtesy of BMJ Publishing Group

RESOURCES