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Hemostatic abnormalities in adult patients with Marfan syndrome

Katharina T I Kornhuber1, Heide Seidel1,2, Claudia Pujol1

  • 1Department of Congenital Heart Disease and Pediatric Cardiology, German Heart Center Munich, Technical University Munich, Munich, Germany.

Cardiovascular Diagnosis and Therapy
|November 19, 2019
PubMed
Abstract

Insights

Patients with Marfan syndrome (MFS) exhibit significant hemostatic deviations, including altered platelet function and increased D-dimers, linked to aortic root ectasia. These findings highlight potential bleeding risks in MFS patients.

Area of Science:

  • Cardiovascular Medicine
  • Hematology
  • Genetics

Background:

  • Marfan syndrome (MFS) is associated with aortic root ectasia, potentially impacting hemostasis due to altered blood flow.
  • Understanding hemostatic changes in MFS is crucial for managing associated cardiovascular risks.

Purpose of the Study:

  • To investigate and compare hemostasis in patients with Marfan syndrome (MFS) against healthy controls.
  • To explore the relationship between aortic root dimensions and coagulation status in MFS.

Main Methods:

  • A cross-sectional case-control study included 51 MFS patients and 50 healthy controls.
  • Aortic root dimensions were assessed using echocardiography and cardiac MRI.
  • Coagulation status was evaluated using Multiplate®, PFA-100®, PTT, D-dimers, von Willebrand factor (VWF) activity/antigen, and factor VIII activity.

Main Results:

  • MFS patients displayed significantly larger aortic root diameters and Z-scores compared to controls.
  • Elevated Multiplate® (MP-ADP) and PFA-100® (PFA Col/ADP) test values, along with increased D-dimers, were observed in MFS patients.
  • Reduced VWF activity/antigen and factor VIII activity were noted in MFS patients, with significant correlations between aortic diameter and D-dimers/PFA Col/ADP, and an inverse correlation with factor VIII activity.

Conclusions:

  • The study confirms significant hemostatic deviations in patients with Marfan syndrome.
  • Aortic root ectasia in MFS is associated with distinct alterations in platelet function, coagulation, and fibrinolysis.
  • Further research is warranted to elucidate the precise pathomechanisms and causal relationships involved.
Keywords:
Marfanaortic root dilatationcoagulation

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