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Clinical features differ substantially between Caucasian and Asian populations of Marfan syndrome

Romy Franken1, Alexander W den Hartog, Liz van de Riet

  • 1Department of Cardiology, Academic Medical Center.

Circulation Journal : Official Journal of the Japanese Circulation Society
|August 30, 2013
PubMed
Abstract

Insights

The Ghent criteria for diagnosing Marfan syndrome (MFS) may not accurately apply to Asian populations, potentially leading to underdiagnosis and more severe cardiovascular issues. Adaptation of these criteria is recommended for better MFS diagnosis in Asian individuals.

Area of Science:

  • Cardiovascular Genetics
  • Marfan Syndrome Research
  • Diagnostic Criteria Evaluation

Background:

  • Accurate diagnosis of Marfan syndrome (MFS) is crucial for preventing aortic dissection and sudden death.
  • Current MFS diagnosis relies on the Ghent criteria, primarily developed from Caucasian populations.
  • The applicability of these criteria to diverse ethnic groups, specifically Asian populations, remains uncertain.

Purpose of the Study:

  • To evaluate the effectiveness of the 2010 Ghent criteria in diagnosing Marfan syndrome (MFS) within Asian populations.
  • To compare clinical features of MFS between Asian and Caucasian cohorts.
  • To identify potential disparities in MFS diagnosis and cardiovascular involvement across different ethnicities.

Main Methods:

  • A multicenter study included 255 adult patients diagnosed with Marfan syndrome (MFS) using the 2010 Ghent criteria.
  • Patients were categorized into Asian (n=49) and Caucasian (n=206) groups, excluding other ethnicities.
  • Comparative analysis focused on body surface area, aortic root dimensions (absolute, BSA-corrected, Z-score), systemic score, and occurrence of ectopia lentis.

Main Results:

  • The Asian MFS population exhibited a smaller body surface area (BSA) compared to Caucasians.
  • Asian patients presented with a more severely affected aortic root, indicated by higher BSA-corrected diameters and Z-scores.
  • Ectopia lentis was less frequent in Asians, while a positive systemic score was more common, suggesting ethnic variations in MFS manifestations.

Conclusions:

  • The current Ghent criteria may not be universally applicable to Asian Marfan syndrome (MFS) populations.
  • Discrepancies in diagnosis may stem from ethnic and genetic differences, impacting cardiovascular health.
  • Adapting the Ghent criteria for Asian populations is essential for accurate MFS diagnosis and improved patient outcomes.

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