BACKGROUND: Marfan syndrome (MFS) is a variable, autosomal-dominant disorder of the connective tissue. In MFS serious ventricular arrhythmias and sudden cardiac death (SCD) can occur. The aim of this prospective study was to reveal underlying risk factors and to prospectively investigate the association between MFS and SCD in a long-term follow-up. METHODS: 77 patients with MFS were included. At baseline serum N-terminal pro-brain natriuretic peptide (NT-proBNP), transthoracic echocardiogram, 12-lead resting ECG, signal-averaged ECG (SAECG) and a 24-h Holter ECG with time- and frequency domain analyses were performed. The primary composite endpoint was defined as SCD, ventricular tachycardia (VT), ventricular fibrillation (VF) or arrhythmogenic syncope. RESULTS: The median follow-up (FU) time was 868 days. Among all risk stratification parameters, NT-proBNP remained the exclusive predictor (hazard ratio [HR]: 2.34, 95% confidence interval [CI]: 1.1 to 4.62, p=0.01) for the composite endpoint. With an optimal cut-off point at 214.3 pg/ml NT-proBNP predicted the composite primary endpoint accurately (AUC 0.936, p=0.00046, sensitivity 100%, specificity 79.0%). During FU, seven patients of Group 2 (NT-proBNP ≥ 214.3 pg/ml) reached the composite endpoint and 2 of these patients died due to SCD. In five patients, sustained VT was documented. All patients with a NT-proBNP<214.3 pg/ml (Group 1) experienced no events. Group 2 patients had a significantly higher risk of experiencing the composite endpoint (logrank-test, p<0.001). CONCLUSIONS: In contrast to non-invasive electrocardiographic parameter, NT-proBNP independently predicts adverse arrhythmogenic events in patients with MFS.
BACKGROUND:Marfan syndrome (MFS) is a variable, autosomal-dominant disorder of the connective tissue. In MFS serious ventricular arrhythmias and sudden cardiac death (SCD) can occur. The aim of this prospective study was to reveal underlying risk factors and to prospectively investigate the association between MFS and SCD in a long-term follow-up. METHODS: 77 patients with MFS were included. At baseline serum N-terminal pro-brain natriuretic peptide (NT-proBNP), transthoracic echocardiogram, 12-lead resting ECG, signal-averaged ECG (SAECG) and a 24-h Holter ECG with time- and frequency domain analyses were performed. The primary composite endpoint was defined as SCD, ventricular tachycardia (VT), ventricular fibrillation (VF) or arrhythmogenic syncope. RESULTS: The median follow-up (FU) time was 868 days. Among all risk stratification parameters, NT-proBNP remained the exclusive predictor (hazard ratio [HR]: 2.34, 95% confidence interval [CI]: 1.1 to 4.62, p=0.01) for the composite endpoint. With an optimal cut-off point at 214.3 pg/ml NT-proBNP predicted the composite primary endpoint accurately (AUC 0.936, p=0.00046, sensitivity 100%, specificity 79.0%). During FU, seven patients of Group 2 (NT-proBNP ≥ 214.3 pg/ml) reached the composite endpoint and 2 of these patients died due to SCD. In five patients, sustained VT was documented. All patients with a NT-proBNP<214.3 pg/ml (Group 1) experienced no events. Group 2 patients had a significantly higher risk of experiencing the composite endpoint (logrank-test, p<0.001). CONCLUSIONS: In contrast to non-invasive electrocardiographic parameter, NT-proBNP independently predicts adverse arrhythmogenic events in patients with MFS.
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Authors: Dianna M Milewicz; Alan C Braverman; Julie De Backer; Shaine A Morris; Catherine Boileau; Irene H Maumenee; Guillaume Jondeau; Arturo Evangelista; Reed E Pyeritz Journal: Nat Rev Dis Primers Date: 2021-09-02 Impact factor: 65.038
Authors: Yskert von Kodolitsch; Julie De Backer; Helke Schüler; Peter Bannas; Cyrus Behzadi; Alexander M Bernhardt; Mathias Hillebrand; Bettina Fuisting; Sara Sheikhzadeh; Meike Rybczynski; Tilo Kölbel; Klaus Püschel; Stefan Blankenberg; Peter N Robinson Journal: Appl Clin Genet Date: 2015-06-16
Authors: Anthony Demolder; Frank Timmermans; Mattias Duytschaever; Laura Muiño-Mosquera; Julie De Backer Journal: JAMA Cardiol Date: 2021-10-01 Impact factor: 30.154
Authors: Sara Sheikhzadeh; Julie De Backer; Neda Rahimian Gorgan; Meike Rybczynski; Mathias Hillebrand; Helke Schüler; Alexander M Bernhardt; Dietmar Koschyk; Peter Bannas; Britta Keyser; Kai Mortensen; Robert M Radke; Thomas S Mir; Tilo Kölbel; Peter N Robinson; Jörg Schmidtke; Jürgen Berger; Stefan Blankenberg; Yskert von Kodolitsch Journal: Orphanet J Rare Dis Date: 2014-12-10 Impact factor: 4.123