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. 2020 Oct 23;15(1):300.
doi: 10.1186/s13023-020-01581-8.

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

Laura Muiño-Mosquera  1   2 , Hans De Wilde  3   4 , Daniel Devos  5 , Danilo Babin  6 , Luc Jordaens  4 , Anthony Demolder  7   4 , Katya De Groote  3 , Daniel De Wolf  3 , Julie De Backer  7   4
Affiliations

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

Laura Muiño-Mosquera et al. Orphanet J Rare Dis. .

Abstract

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.

Keywords: Arrhythmia; Heart failure; Marfan syndrome; Myocardial disease.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Inclusion procedure and investigations at baseline and during follow-up. Eighty-six patients with MFS and 40 age- and sex matched controls were included in the study. At baseline all subjects underwent physical examination, resting and ambulatory ECG, cardiac ultrasound and dosing of NT-proBNP. In patients with MFS these investigations were repeated twice, in a mean period of 30 ± 7 months and TSH level was determined at the end of the study. Additionally, a subset of 45 patients underwent cardiac MRI with angiography and measurement of PWV. Eighty-two patients completed all 3 visits. Three patients died during study, 2 of them after completing the 3rd visit. Two patients declined further participation after the 1st visit and 1 patient could not attend the last visit. AECG ambulatory ECG, ECG electrocardiogram, MFS Marfan syndrome, MRI magnetic resonance image
Fig. 2
Fig. 2
Multivariate analysis to identify independent associations with NSVT in patients with Marfan syndrome. Multivariate analysis shows that higher left ventricular dimension and higher amount of VES in the AECG are the only independent factors of the presence of NSVT. ln logarithm, LVEDDind left ventricular end diastolic diameter index, MFS Marfan syndrome, ln logarithm, yr year, VES ventricular extrasystoles
See this image and copyright information in PMC

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