Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

Aims Truncating titin mutations (tTTN) occur in 25% of dilated cardiomyopathy (DCM) cases, but the phenotype and severity of disease they cause have not yet been systematically studied. We studied whether tTTN variants are associated with a clinically distinguishable form of DCM. Methods and results...

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Veröffentlicht in:European journal of heart failure 2017-04, Vol.19 (4), p.512-521
Hauptverfasser: Jansweijer, Joeri A., Nieuwhof, Karin, Russo, Francesco, Hoorntje, Edgar T., Jongbloed, Jan D.H., Lekanne Deprez, Ronald H., Postma, Alex V., Bronk, Marieke, van Rijsingen, Ingrid A.W., de Haij, Simone, Biagini, Elena, van Haelst, Paul L., van Wijngaarden, Jan, van den Berg, Maarten P., Wilde, Arthur A.M., Mannens, Marcel M.A.M., de Boer, Rudolf A., van Spaendonck‐Zwarts, Karin Y., van Tintelen, J. Peter, Pinto, Yigal M.
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Sprache:eng
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Zusammenfassung:Aims Truncating titin mutations (tTTN) occur in 25% of dilated cardiomyopathy (DCM) cases, but the phenotype and severity of disease they cause have not yet been systematically studied. We studied whether tTTN variants are associated with a clinically distinguishable form of DCM. Methods and results We compared clinical data on DCM probands and relatives with a tTTN mutation (n = 45, n = 73), LMNA mutation (n = 28, n = 29), and probands who tested negative for both genes [idiopathic DCM (iDCM); n = 60]. Median follow‐up was at least 2.5 years in each group. TTN subjects presented with DCM at higher age than LMNA subjects (probands 47.9 vs. 40.4 years, P = 0.004; relatives 59.8 vs. 47.0 years, P = 0.01), less often developed LVEF
ISSN:1388-9842
1879-0844
DOI:10.1002/ejhf.673