Mitral valve prolapse in marfan syndrome

An old topic revisited

Cynthia C. Taub, Joan M. Stoler, Teresa Perez-Sanz, John Chu, Eric M. Isselbacher, Michael H. Picard, Arthur E. Weyman

Research output: Contribution to journalArticle

29 Citations (Scopus)

Abstract

Background: The echocardiographic features of mitral valve prolapse (MVP) in Marfan syndrome have been well described, and the incidence of MVP in Marfan syndrome is reported to be 40-80%. However, most of the original research was performed in the late 1980s and early 1990s, when the diagnostic criteria for MVP were less specific. Our goal was to investigate the characteristics of MVP associated with Marfan syndrome using currently accepted diagnostic criteria for MVP. Methods: Between January 1990 and March 2004, 90 patients with definitive diagnosis of Marfan syndrome (based on standardized criteria with or without genetic testing) were referred to Massachusetts General Hospital for transthoracic echocardiography. Patients' gender, age, weight, height, and body surface area at initial examination were recorded. Mitral valve thickness and motion, the degree of mitral regurgitation and aortic regurgitation, and aortic dimensions were quantified blinded to patients' clinical information. Results: There were 25 patients (28%) with MVP, among whom 80% had symmetrical bileaflet MVP. Patients with MVP had thicker mitral leaflets (5.0 ± 1.0 mm vs. 1.8 ± 0.5 mm, P < 0.001), more mitral regurgitation (using a scale of 1-4, 2.2 ± 1.0 vs. 0.90 ± 0.60, P < 0.0001), larger LVEDD, and larger dimensions of sinus of Valsalva, sinotubular junction, aortic arch, and descending aorta indexed to square root body surface area, when compared with those without MVP. When echocardiographic features of patients younger than 18 years of age and those of patients older than 18 were compared, adult Marfan patients had larger LA dimension (indexed to square root body surface area), larger sinotubular junction (indexed to square root body surface area), and more mitral regurgitation and aortic regurgitation. Conclusions: The prevalence of MVP in Marfan syndrome is lower than previously reported. The large majority of patients with MVP have bileaflet involvement, and those with MVP have significantly larger aortic root diameters, suggesting a diffuse disease process.

Original languageEnglish (US)
Pages (from-to)357-364
Number of pages8
JournalEchocardiography
Volume26
Issue number4
DOIs
StatePublished - Apr 2009

Fingerprint

Mitral Valve Prolapse
Marfan Syndrome
Body Surface Area
Mitral Valve Insufficiency
Thoracic Aorta
Aortic Valve Insufficiency
Sinus of Valsalva
Genetic Testing
Mitral Valve
General Hospitals
Echocardiography

Keywords

  • Echocardiography
  • Marfan syndrome
  • Mitral valve prolapse

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Radiology Nuclear Medicine and imaging

Cite this

Taub, C. C., Stoler, J. M., Perez-Sanz, T., Chu, J., Isselbacher, E. M., Picard, M. H., & Weyman, A. E. (2009). Mitral valve prolapse in marfan syndrome: An old topic revisited. Echocardiography, 26(4), 357-364. https://doi.org/10.1111/j.1540-8175.2008.00825.x

Mitral valve prolapse in marfan syndrome : An old topic revisited. / Taub, Cynthia C.; Stoler, Joan M.; Perez-Sanz, Teresa; Chu, John; Isselbacher, Eric M.; Picard, Michael H.; Weyman, Arthur E.

In: Echocardiography, Vol. 26, No. 4, 04.2009, p. 357-364.

Research output: Contribution to journalArticle

Taub, CC, Stoler, JM, Perez-Sanz, T, Chu, J, Isselbacher, EM, Picard, MH & Weyman, AE 2009, 'Mitral valve prolapse in marfan syndrome: An old topic revisited', Echocardiography, vol. 26, no. 4, pp. 357-364. https://doi.org/10.1111/j.1540-8175.2008.00825.x
Taub CC, Stoler JM, Perez-Sanz T, Chu J, Isselbacher EM, Picard MH et al. Mitral valve prolapse in marfan syndrome: An old topic revisited. Echocardiography. 2009 Apr;26(4):357-364. https://doi.org/10.1111/j.1540-8175.2008.00825.x
Taub, Cynthia C. ; Stoler, Joan M. ; Perez-Sanz, Teresa ; Chu, John ; Isselbacher, Eric M. ; Picard, Michael H. ; Weyman, Arthur E. / Mitral valve prolapse in marfan syndrome : An old topic revisited. In: Echocardiography. 2009 ; Vol. 26, No. 4. pp. 357-364.
@article{9b836574058a4f87b3ac2aeabe384cb8,
title = "Mitral valve prolapse in marfan syndrome: An old topic revisited",
abstract = "Background: The echocardiographic features of mitral valve prolapse (MVP) in Marfan syndrome have been well described, and the incidence of MVP in Marfan syndrome is reported to be 40-80{\%}. However, most of the original research was performed in the late 1980s and early 1990s, when the diagnostic criteria for MVP were less specific. Our goal was to investigate the characteristics of MVP associated with Marfan syndrome using currently accepted diagnostic criteria for MVP. Methods: Between January 1990 and March 2004, 90 patients with definitive diagnosis of Marfan syndrome (based on standardized criteria with or without genetic testing) were referred to Massachusetts General Hospital for transthoracic echocardiography. Patients' gender, age, weight, height, and body surface area at initial examination were recorded. Mitral valve thickness and motion, the degree of mitral regurgitation and aortic regurgitation, and aortic dimensions were quantified blinded to patients' clinical information. Results: There were 25 patients (28{\%}) with MVP, among whom 80{\%} had symmetrical bileaflet MVP. Patients with MVP had thicker mitral leaflets (5.0 ± 1.0 mm vs. 1.8 ± 0.5 mm, P < 0.001), more mitral regurgitation (using a scale of 1-4, 2.2 ± 1.0 vs. 0.90 ± 0.60, P < 0.0001), larger LVEDD, and larger dimensions of sinus of Valsalva, sinotubular junction, aortic arch, and descending aorta indexed to square root body surface area, when compared with those without MVP. When echocardiographic features of patients younger than 18 years of age and those of patients older than 18 were compared, adult Marfan patients had larger LA dimension (indexed to square root body surface area), larger sinotubular junction (indexed to square root body surface area), and more mitral regurgitation and aortic regurgitation. Conclusions: The prevalence of MVP in Marfan syndrome is lower than previously reported. The large majority of patients with MVP have bileaflet involvement, and those with MVP have significantly larger aortic root diameters, suggesting a diffuse disease process.",
keywords = "Echocardiography, Marfan syndrome, Mitral valve prolapse",
author = "Taub, {Cynthia C.} and Stoler, {Joan M.} and Teresa Perez-Sanz and John Chu and Isselbacher, {Eric M.} and Picard, {Michael H.} and Weyman, {Arthur E.}",
year = "2009",
month = "4",
doi = "10.1111/j.1540-8175.2008.00825.x",
language = "English (US)",
volume = "26",
pages = "357--364",
journal = "Echocardiography",
issn = "0742-2822",
publisher = "Wiley-Blackwell",
number = "4",

}

TY - JOUR

T1 - Mitral valve prolapse in marfan syndrome

T2 - An old topic revisited

AU - Taub, Cynthia C.

AU - Stoler, Joan M.

AU - Perez-Sanz, Teresa

AU - Chu, John

AU - Isselbacher, Eric M.

AU - Picard, Michael H.

AU - Weyman, Arthur E.

PY - 2009/4

Y1 - 2009/4

N2 - Background: The echocardiographic features of mitral valve prolapse (MVP) in Marfan syndrome have been well described, and the incidence of MVP in Marfan syndrome is reported to be 40-80%. However, most of the original research was performed in the late 1980s and early 1990s, when the diagnostic criteria for MVP were less specific. Our goal was to investigate the characteristics of MVP associated with Marfan syndrome using currently accepted diagnostic criteria for MVP. Methods: Between January 1990 and March 2004, 90 patients with definitive diagnosis of Marfan syndrome (based on standardized criteria with or without genetic testing) were referred to Massachusetts General Hospital for transthoracic echocardiography. Patients' gender, age, weight, height, and body surface area at initial examination were recorded. Mitral valve thickness and motion, the degree of mitral regurgitation and aortic regurgitation, and aortic dimensions were quantified blinded to patients' clinical information. Results: There were 25 patients (28%) with MVP, among whom 80% had symmetrical bileaflet MVP. Patients with MVP had thicker mitral leaflets (5.0 ± 1.0 mm vs. 1.8 ± 0.5 mm, P < 0.001), more mitral regurgitation (using a scale of 1-4, 2.2 ± 1.0 vs. 0.90 ± 0.60, P < 0.0001), larger LVEDD, and larger dimensions of sinus of Valsalva, sinotubular junction, aortic arch, and descending aorta indexed to square root body surface area, when compared with those without MVP. When echocardiographic features of patients younger than 18 years of age and those of patients older than 18 were compared, adult Marfan patients had larger LA dimension (indexed to square root body surface area), larger sinotubular junction (indexed to square root body surface area), and more mitral regurgitation and aortic regurgitation. Conclusions: The prevalence of MVP in Marfan syndrome is lower than previously reported. The large majority of patients with MVP have bileaflet involvement, and those with MVP have significantly larger aortic root diameters, suggesting a diffuse disease process.

AB - Background: The echocardiographic features of mitral valve prolapse (MVP) in Marfan syndrome have been well described, and the incidence of MVP in Marfan syndrome is reported to be 40-80%. However, most of the original research was performed in the late 1980s and early 1990s, when the diagnostic criteria for MVP were less specific. Our goal was to investigate the characteristics of MVP associated with Marfan syndrome using currently accepted diagnostic criteria for MVP. Methods: Between January 1990 and March 2004, 90 patients with definitive diagnosis of Marfan syndrome (based on standardized criteria with or without genetic testing) were referred to Massachusetts General Hospital for transthoracic echocardiography. Patients' gender, age, weight, height, and body surface area at initial examination were recorded. Mitral valve thickness and motion, the degree of mitral regurgitation and aortic regurgitation, and aortic dimensions were quantified blinded to patients' clinical information. Results: There were 25 patients (28%) with MVP, among whom 80% had symmetrical bileaflet MVP. Patients with MVP had thicker mitral leaflets (5.0 ± 1.0 mm vs. 1.8 ± 0.5 mm, P < 0.001), more mitral regurgitation (using a scale of 1-4, 2.2 ± 1.0 vs. 0.90 ± 0.60, P < 0.0001), larger LVEDD, and larger dimensions of sinus of Valsalva, sinotubular junction, aortic arch, and descending aorta indexed to square root body surface area, when compared with those without MVP. When echocardiographic features of patients younger than 18 years of age and those of patients older than 18 were compared, adult Marfan patients had larger LA dimension (indexed to square root body surface area), larger sinotubular junction (indexed to square root body surface area), and more mitral regurgitation and aortic regurgitation. Conclusions: The prevalence of MVP in Marfan syndrome is lower than previously reported. The large majority of patients with MVP have bileaflet involvement, and those with MVP have significantly larger aortic root diameters, suggesting a diffuse disease process.

KW - Echocardiography

KW - Marfan syndrome

KW - Mitral valve prolapse

UR - http://www.scopus.com/inward/record.url?scp=63849302971&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=63849302971&partnerID=8YFLogxK

U2 - 10.1111/j.1540-8175.2008.00825.x

DO - 10.1111/j.1540-8175.2008.00825.x

M3 - Article

VL - 26

SP - 357

EP - 364

JO - Echocardiography

JF - Echocardiography

SN - 0742-2822

IS - 4

ER -