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Measurement of Endothelium-Dependent Vasorelaxation in the Mouse Thoracic Aorta Using Tensometric Small Volume Chamber Myography
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Diastolic subclinical primary alterations in Marfan syndrome and Marfan-related disorders

Maria Cristinna Porciani1, Letzia Giurlani, Andrea Chelucci

  • 1Dipartimento di Area Critica Medico Chirurgica, University of Florence, Italy. c.porciani@dfc.unifi.it

Clinical Cardiology
|September 25, 2002
PubMed
Abstract

Insights

Marfan syndrome and related disorders cause subclinical diastolic dysfunction in the heart, indicated by altered transmitral flow patterns. These changes suggest early primary myocardial involvement, even without valve issues.

Area of Science:

  • Cardiology
  • Genetics
  • Biomedical Engineering

Background:

  • The heart's extracellular matrix is crucial for left ventricular (LV) performance.
  • FBN1 gene disorders can affect the cardiac interstitium, leading to functional abnormalities.

Purpose of the Study:

  • To investigate primary myocardial involvement in Marfan syndrome and related disorders.
  • To assess left ventricular (LV) function in patients with Marfan syndrome and MASS phenotypes compared to controls.

Main Methods:

  • Echocardiography was used to evaluate LV systolic and diastolic function.
  • Study included 28 patients with Marfan syndrome or related disorders and 28 healthy controls.

Main Results:

  • No significant differences in LV dimensions or systolic function were found between groups.
  • Patients showed increased LV mass, prolonged isovolumic relaxation time, and altered E and A wave deceleration times.

Conclusions:

  • Marfan syndrome patients exhibit an unusual diastolic flow pattern with decreased ventricular compliance and impaired relaxation.
  • Subclinical diastolic alterations in Marfan syndrome may serve as an early marker of primary myocardial involvement, independent of valvular disease.

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