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Int J Cardiol. 2010 Oct 8;144(2):307-9. doi: 10.1016/j.ijcard.2009.03.003. Epub 2009 Mar 26.

Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects.


Diagnosing familial dilated cardiomyopathy requires careful family history taking and clinical evaluation in first degree relatives. Based on the results of these findings the diagnosis may be established in the proband. However, due to the age-dependent expression of the disease, doubt may persist regarding the exact status of other family members, especially in young individuals. Here we present a family with DCM in whom we identified an underlying cardiac troponin T (TNNT2) mutation. Genetic testing was essential for the detection of asymptomatic carriers as well as for exclusion of the disease in other family members.

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