Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.
<h4>Background</h4>Marfan syndrome is associated with ventricular arrhythmia but risk factors including FBN1 mutation characteristics require elucidation.<h4>Methods and results</h4>We performed an observational cohort study of 80 consecutive adults (30 men, 50 women aged 42±...
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2013
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oai:doaj.org-article:3d79b92abb9949589a02f506c10821452021-11-18T08:42:06ZObservational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations.1932-620310.1371/journal.pone.0081281https://doaj.org/article/3d79b92abb9949589a02f506c10821452013-01-01T00:00:00Zhttps://www.ncbi.nlm.nih.gov/pmc/articles/pmid/24349050/?tool=EBIhttps://doaj.org/toc/1932-6203<h4>Background</h4>Marfan syndrome is associated with ventricular arrhythmia but risk factors including FBN1 mutation characteristics require elucidation.<h4>Methods and results</h4>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).<h4>Conclusions</h4>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.Ali AydinBaran A AdsaySara SheikhzadehBritta KeyserMeike RybczynskiClaudia SondermannChristian DetterDaniel StevenPeter N RobinsonJürgen BergerJörg SchmidtkeStefan BlankenbergStephan WillemsYskert von KodolitschBoris A HoffmannPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 8, Iss 12, p e81281 (2013) |
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Medicine R Science Q |
| spellingShingle |
Medicine R Science Q Ali Aydin Baran A Adsay Sara Sheikhzadeh Britta Keyser Meike Rybczynski Claudia Sondermann Christian Detter Daniel Steven Peter N Robinson Jürgen Berger Jörg Schmidtke Stefan Blankenberg Stephan Willems Yskert von Kodolitsch Boris A Hoffmann Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations. |
| description |
<h4>Background</h4>Marfan syndrome is associated with ventricular arrhythmia but risk factors including FBN1 mutation characteristics require elucidation.<h4>Methods and results</h4>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).<h4>Conclusions</h4>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. |
| format |
article |
| author |
Ali Aydin Baran A Adsay Sara Sheikhzadeh Britta Keyser Meike Rybczynski Claudia Sondermann Christian Detter Daniel Steven Peter N Robinson Jürgen Berger Jörg Schmidtke Stefan Blankenberg Stephan Willems Yskert von Kodolitsch Boris A Hoffmann |
| author_facet |
Ali Aydin Baran A Adsay Sara Sheikhzadeh Britta Keyser Meike Rybczynski Claudia Sondermann Christian Detter Daniel Steven Peter N Robinson Jürgen Berger Jörg Schmidtke Stefan Blankenberg Stephan Willems Yskert von Kodolitsch Boris A Hoffmann |
| author_sort |
Ali Aydin |
| title |
Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations. |
| title_short |
Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations. |
| title_full |
Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations. |
| title_fullStr |
Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations. |
| title_full_unstemmed |
Observational cohort study of ventricular arrhythmia in adults with Marfan syndrome caused by FBN1 mutations. |
| title_sort |
observational cohort study of ventricular arrhythmia in adults with marfan syndrome caused by fbn1 mutations. |
| publisher |
Public Library of Science (PLoS) |
| publishDate |
2013 |
| url |
https://doaj.org/article/3d79b92abb9949589a02f506c1082145 |
| work_keys_str_mv |
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