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Aortic events in a nationwide Marfan syndrome cohort

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Abstract

Background

Marfan syndrome is associated with morbidity and mortality due to aortic dilatation and dissection. Preventive aortic root replacement has been the standard treatment in Marfan syndrome patients with aortic dilatation. In this study, we present aortic event data from a nationwide Marfan syndrome cohort.

Method

The nationwide cohort of Danish Marfan syndrome patients was established from the Danish National Patient Registry and the Cause of Death Register, where we retrieved information about aortic surgery and dissections. We associated aortic events with age, sex, and Marfan syndrome diagnosis prior or after the first aortic event.

Results

From the total cohort of 412 patients, 150 (36.4 %) had an aortic event. Fifty percent were event free at age 49.6. Eighty patients (53.3 %) had prophylactic surgery and seventy patients (46.7 %) a dissection. The yearly event rate was 0.02 events/year/patient in the period 1994–2014. Male patients had a significant higher risk of an aortic event at a younger age with a hazard ratio of 1.75 (CI 1.26–2.42, p = 0.001) compared with women. Fifty-three patients (12.9 %) were diagnosed with MFS after their first aortic event which primarily was aortic dissection [n = 44 (83.0 %)].

Conclusion

More than a third of MFS patients experienced an aortic event and male patients had significantly more aortic events than females. More than half of the total number of dissections was in patients undiagnosed with MFS at the time of their event. This emphasizes that diagnosing MFS is lifesaving and improves mortality risk by reducing the risk of aorta dissection.

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Abbreviations

CI:

Confidence interval

CPR:

Danish Central Personal Register

CDR:

The Cause of death Register

DNPR:

The Danish National Patient Register

FBN1:

Fibrillin-1 gene

Ghent-I:

First revised Ghent nosology [31]

Ghent-II:

Second revised Ghent nosology [14]

ICD:

International classification of disease

MFS:

Marfan syndrome

RR:

Relative risk

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Acknowledgments

This study is supported by the Department of Clinical Medicine, Aarhus University Hospital and Aarhus University and the Novo Nordisk Foundation. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Author information

Authors and Affiliations

  1. Department of Cardiology, Aarhus University Hospital, 8200, Aarhus N, Denmark

    Kristian A. Groth & Niels H. Andersen

  2. Department of Molecular Medicine, Aarhus University Hospital, 8200, Aarhus N, Denmark

    Kristian A. Groth & Claus H. Gravholt

  3. Centre for Rare Diseases, Department of Pediatrics, Aarhus University Hospital, 8200, Aarhus N, Denmark

    Kirstine Stochholm, Pernille A. Gregersen & John R. Østergaard

  4. Department of Endocrinology and Internal Medicine, Aarhus University Hospital, 8000, Aarhus C, Denmark

    Kirstine Stochholm & Claus H. Gravholt

  5. Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark

    Hanne Hove

  6. The RAREDIS Database, Section of Rare Diseases, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, 2100, Copenhagen, Denmark

    Hanne Hove

  7. Department of Cardiology, Rigshospitalet, 2100, Copenhagen, Denmark

    Kasper Kyhl & Niels Vejlstrup

  8. Department of Clinical Genetics, Aarhus University Hospital, 8200, Aarhus N, Denmark

    Pernille A. Gregersen

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  1. Kristian A. Groth
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Corresponding author

Correspondence to Kristian A. Groth.

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Ethics approval and consent to participate

The study was approved by the Scientific Ethical Committee of Region Midtjylland and the Danish Data Protection Agency.

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Groth, K.A., Stochholm, K., Hove, H. et al. Aortic events in a nationwide Marfan syndrome cohort. Clin Res Cardiol 106, 105–112 (2017). https://doi.org/10.1007/s00392-016-1028-3

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  • DOI: https://doi.org/10.1007/s00392-016-1028-3

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