Myocardial disease and ventricular arrhythmia in Marfan syndrome: a prospective study

Laura Muiño-Mosquera, Hans De Wilde, Daniel Devos, Danilo Babin, Luc Jordaens, Anthony Demolder, D De Wolf, Katya De Groote, Julie De Backer

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BACKGROUND: Aortic root dilatation and-dissection and mitral valve prolapse are established cardiovascular manifestations in Marfan syndrome (MFS). Heart failure and arrhythmic sudden cardiac death have emerged as additional causes of morbidity and mortality.

METHODS: To characterize myocardial dysfunction and arrhythmia in MFS we conducted a prospective longitudinal case-control study including 86 patients with MFS (55.8% women, mean age 36.3 yr-range 13-70 yr-) and 40 age-and sex-matched healthy controls. Cardiac ultrasound, resting and ambulatory ECG (AECG) and NT-proBNP measurements were performed in all subjects at baseline. Additionally, patients with MFS underwent 2 extra evaluations during 30 ± 7 months follow-up. To study primary versus secondary myocardial involvement, patients with MFS were divided in 2 groups: without previous surgery and normal/mild valvular function (MFS-1; N = 55) and with previous surgery or valvular dysfunction (MFS-2; N = 31).

RESULTS: Compared to controls, patients in MFS-1 showed mild myocardial disease reflected in a larger left ventricular end-diastolic diameter (LVEDD), lower TAPSE and higher amount of (supra) ventricular extrasystoles [(S)VES]. Patients in MFS-2 were more severely affected. Seven patients (five in MFS-2) presented decreased LV ejection fraction. Twenty patients (twelve in MFS-2) had non-sustained ventricular tachycardia (NSVT) in at least one AECG. Larger LVEDD and higher amount of VES were independently associated with NSVT.

CONCLUSION: Our study shows mild but significant myocardial involvement in patients with MFS. Patients with previous surgery or valvular dysfunction are more severely affected. Evaluation of myocardial function with echocardiography and AECG should be considered in all patients with MFS, especially in those with valvular disease and a history of cardiac surgery.

Original languageEnglish
Article number300
Number of pages11
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - 23 Oct 2020

Bibliographical note

Funding Information:
LMM is supported by a doctoral fellowship from the Special Research Fund (BOF) of the Ghent University. AD is supported by a Methusalem Grant of the Flemish government and the Ghent University to A. De Paepe. JDB is supported as Senior Clinical Researcher by the Research Foundation Flanders (FWO) and holds a Grant for Medical Research from the Baillet Latour Funds. Acknowledgements

Publisher Copyright:
© 2020, The Author(s).


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