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PLoS One. 2013 Dec 13;8(12):e81281. doi: 10.1371/journal.pone.0081281. eCollection 2013.

Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.

Author information

1
Department of Cardiology/Electrophysiology, University Heart Center, University Hospital Eppendorf, Hamburg, Germany.
2
Department of Cardiology, University Heart Center, University Hospital Eppendorf, Hamburg, Germany.
3
Institute of Human Genetics, Hannover Medical School, Charité Universitätsmedizin Berlin, Berlin, Germany.
4
Institute of Human Genetics and Medical Genetics, Charité Universitätsmedizin Berlin, Berlin, Germany.
5
Department of Medical Biometry and Epidemiology, University Hospital Eppendorf, Hamburg, Germany.

Abstract

BACKGROUND:

Marfan syndrome is associated with ventricular arrhythmia but risk factors including FBN1 mutation characteristics require elucidation.

METHODS AND RESULTS:

We performed an observational cohort study of 80 consecutive adults (30 men, 50 women aged 42±15 years) with Marfan syndrome caused by FBN1 mutations. We assessed ventricular arrhythmia on baseline ambulatory electrocardiography as >10 premature ventricular complexes per hour (>10 PVC/h), as ventricular couplets (Couplet), or as non-sustained ventricular tachycardia (nsVT), and during 31±18 months of follow-up as ventricular tachycardia (VT) events (VTE) such as sudden cardiac death (SCD), and sustained ventricular tachycardia (sVT). We identified >10 PVC/h in 28 (35%), Couplet/nsVT in 32 (40%), and VTE in 6 patients (8%), including 3 with SCD (4%). PVC>10/h, Couplet/nsVT, and VTE exhibited increased N-terminal pro-brain natriuretic peptide serum levels(P<.001). All arrhythmias related to increased NT-proBNP (P<.001), where PVC>10/h and Couplet/nsVT also related to increased indexed end-systolic LV diameters (P = .024 and P = .020), to moderate mitral valve regurgitation (P = .018 and P = .003), and to prolonged QTc intervals (P = .001 and P = .006), respectively. Moreover, VTE related to mutations in exons 24-32 (P = .021). Kaplan-Meier analysis corroborated an association of VTE with increased NT-proBNP (P<.001) and with mutations in exons 24-32 (P<.001).

CONCLUSIONS:

Marfan syndrome with causative FBN1 mutations is associated with an increased risk for arrhythmia, and affected persons may require life-long monitoring. Ventricular arrhythmia on electrocardiography, signs of myocardial dysfunction and mutations in exons 24-32 may be risk factors of VTE.

PMID:
24349050
PMCID:
PMC3862481
DOI:
10.1371/journal.pone.0081281
[Indexed for MEDLINE]
Free PMC Article
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