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

Orphanet Journal of Rare Diseases

Julie De Backer¹  Anthony Demolder¹  Laura Muiño-Mosquera²  Luc Jordaens³  Daniel Devos⁴  Daniel De Wolf⁵  Katya De Groote⁵  Hans De Wilde⁶  Danilo Babin⁷ 

[1] Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium;Department of Cardiology, Ghent University Hospital, Ghent, Belgium;Centre for Medical Genetics, Ghent University Hospital, Ghent, Belgium;Division of Pediatric Cardiology, Department of Pediatrics, Ghent University Hospital, C. Heymanslaan 10, 9000, Ghent, Belgium;Department of Cardiology, Ghent University Hospital, Ghent, Belgium;Department of Radiology, Ghent University Hospital, Ghent, Belgium;Division of Pediatric Cardiology, Department of Pediatrics, Ghent University Hospital, C. Heymanslaan 10, 9000, Ghent, Belgium;Division of Pediatric Cardiology, Department of Pediatrics, Ghent University Hospital, C. Heymanslaan 10, 9000, Ghent, Belgium;Department of Cardiology, Ghent University Hospital, Ghent, Belgium;Imec-TELIN-IPE, Ghent University, Ghent, Belgium;

关键词: Marfan syndrome;    Arrhythmia;    Heart failure;    Myocardial disease;   

DOI  :  10.1186/s13023-020-01581-8

来源: Springer

【 摘 要 】

BackgroundAortic 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.MethodsTo 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).ResultsCompared 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.ConclusionOur 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.

【 授权许可】

CC BY