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Pure restrictive cardiomyopathy associated with cardiac troponin I gene mutation: mismatch between the lack of hypertrophy and the presence of disarray
  1. F I Gambarin,
  2. M Tagliani,
  3. E Arbustini
  1. Dr Eloisa Arbustini, Centre for Inherited Cardiovascular Diseases, IRCCS Policlinico San Matteo, Piazzale Golgi 19, 27100 Pavia, Italy; e.arbustini{at}smatteo.pv.it

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Cardiac troponin I (TNNI3, MIM+191044) gene mutations cause both restrictive and hypertrophic cardiomyopathies in children and adults. The p.[R204H] mutation in the TNNI3 gene was described as associated with hypertrophic cardiomyopathy phenotypes.

We identified this mutation in a young female patient with pure restrictive cardiomyopathy. She first came to clinical attention at the …

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