See the published version of this preprint at Orphanet Journal of Rare Diseases.
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Research
Laura Muino Mosquera
Universitair Ziekenhuis Gent
Corresponding Author
ORCiD: https://orcid.org/0000-0002-3094-7807
License:
This work is licensed under a CC BY 4.0 License. Read Full License
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 36.3yr - range 13-70yr-) 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±7months 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
Marfan syndrome, arrhythmia, heart failure, myocardial disease
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CURRENT STATUS: Published
View the published article at Orphanet Journal of Rare Diseases.
Version 2
Posted 23 Sep, 2020
No community comments so far
Editorial decision: Accept
On 12 Oct, 2020
Review #1 received
Received 05 Oct, 2020
Reviewer #3 agreed
On 26 Sep, 2020
Review #3 received
Received 26 Sep, 2020
Reviewer #2 agreed
On 24 Sep, 2020
Review #2 received
Received 24 Sep, 2020
Editor assigned
On 23 Sep, 2020
Reviewers invited
Invitations sent on 23 Sep, 2020
Reviewer #1 agreed
On 23 Sep, 2020
Submission checks complete
On 22 Sep, 2020
Editor invited
On 22 Sep, 2020
No comments provided
Editorial decision: Major revision
On 27 Jul, 2020
Review #2 received
Received 26 Jul, 2020
Review #3 received
Received 22 Jul, 2020
Review #1 received
Received 18 Jul, 2020
Reviewer #3 agreed
On 07 Jul, 2020
Reviewer #2 agreed
On 06 Jul, 2020
Reviewer #1 agreed
On 04 Jul, 2020
Editor assigned
On 26 Jun, 2020
Reviewers invited
Invitations sent on 26 Jun, 2020
First submitted
On 25 Jun, 2020
Submission checks complete
On 25 Jun, 2020
Editor invited
On 25 Jun, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
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See the published version of this preprint at Orphanet Journal of Rare Diseases.
This is a preprint, a preliminary version of a manuscript that has not completed peer review at a journal. Research Square does not conduct peer review prior to posting preprints. The posting of a preprint on this server should not be interpreted as an endorsement of its validity or suitability for dissemination as established information or for guiding clinical practice.
Learn more about In Review
Research
Laura Muino Mosquera
Universitair Ziekenhuis Gent
Corresponding Author
ORCiD: https://orcid.org/0000-0002-3094-7807
Badges
Prescreen
This manuscript passed our Prescreen assessment
Complete author information
Appropriate declaration statements
Potential risks to human health
Prescreen
Peer Review Timeline
CURRENT STATUS: Published
View the published article at Orphanet Journal of Rare Diseases.
Version 2
Posted 23 Sep, 2020
No community comments so far
Editorial decision: Accept
On 12 Oct, 2020
Review #1 received
Received 05 Oct, 2020
Reviewer #3 agreed
On 26 Sep, 2020
Review #3 received
Received 26 Sep, 2020
Reviewer #2 agreed
On 24 Sep, 2020
Review #2 received
Received 24 Sep, 2020
Editor assigned
On 23 Sep, 2020
Reviewers invited
Invitations sent on 23 Sep, 2020
Reviewer #1 agreed
On 23 Sep, 2020
Submission checks complete
On 22 Sep, 2020
Editor invited
On 22 Sep, 2020
No comments provided
Editorial decision: Major revision
On 27 Jul, 2020
Review #2 received
Received 26 Jul, 2020
Review #3 received
Received 22 Jul, 2020
Review #1 received
Received 18 Jul, 2020
Reviewer #3 agreed
On 07 Jul, 2020
Reviewer #2 agreed
On 06 Jul, 2020
Reviewer #1 agreed
On 04 Jul, 2020
Editor assigned
On 26 Jun, 2020
Reviewers invited
Invitations sent on 26 Jun, 2020
First submitted
On 25 Jun, 2020
Submission checks complete
On 25 Jun, 2020
Editor invited
On 25 Jun, 2020
Metrics
Comments: 0
PDF Downloads: ...
HTML Views: ...
Subject Areas
Internal Medicine
License:
This work is licensed under a CC BY 4.0 License. Read Full License
View the published article at Orphanet Journal of Rare Diseases.
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 36.3yr - range 13-70yr-) 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±7months 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.
Figure 1
Figure 2
This is a list of supplementary files associated with this preprint. Click to download.
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