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About 30% of dilated cardiomyopathy (DCM) cases are familial. Mutations are mostly found in the genes encoding lamin A/C, beta-myosin heavy chain and the sarcomeric protein cardiac troponin-T (TNNT2). Mutations in TNNT2 are reported in approximately 3% of DCM patients. The overall phenotype caused by TNNT2 mutations is thought to be a fully penetrant, severe disease. This also seems to be true for a recurrent deletion in the TNNT2 gene; p.K217del (also known as p.K210del).
We compared the phenotype of all Dutch patients identified as carrying the TNNT2 p.K217del mutation with those described in the literature. All index patients underwent cardiological evaluation. Family screening was done in all described families.
Six DCM patients carrying the TNNT2 p.K217del mutation were identified from four Dutch families. Mean age of disease manifestation was 33 years. Heart transplantation was required in three of them at ages 12, 18 and 19 years. These outcomes are comparable with those described in the literature.
Carriers of the TNNT2 p.K217del mutation in our Dutch families, as well as in families described in the literature before, generally show a severe, early-onset form of DCM. (Neth Heart J 2010;18:478–85.)
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Elliot P, Andersson B, Arbustini E, Bininska Z, Cecchi F, Charron P, et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on myocardial and pericardial diseases. Eur Heart J. 2008;29:270–6. CrossRef
Martins E, Silva-Cardoso J, Alves C, Pereira H, Soares B, Damasceno A, et al. Familial dilated cardiomyopathy with troponin T K210del mutation. Rev Port Cardiol. 2006;25:295–300. PubMed
Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N, et al. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005;26:751–4. CrossRef
Robinson P, Mirza M, Knott A, Abdulrazzak H, Willott R, Marston S, et al. Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy. J Biol Chem. 2002;277:40710–6. CrossRefPubMed
- Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy*
R.H. Lekanne dit Deprez
M. van Slegtenhorst
J.J. van der Smagt
N. de Jonge
M.P. van den Berg
J.P. van Tintelen
- Bohn Stafleu van Loghum