Genetic DCM – Cardiology MCQ – Answer

Genetic DCM – Cardiology MCQ – Answer

Association of genetic DCM (Dilated cardiomyopathy) – Correct answer: 4. All of the above.

Truncation mutations in titin gene (TTN) was found in 13% of non familial DCM cases in one study [1]. LMNA and SCN5A mutations have been associated with DCM with cardiac conduction abnormalities [2].

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References

  1. Angharad M Roberts, James S Ware, Daniel S Herman, Sebastian Schafer, John Baksi, Alexander G Bick, Rachel J Buchan, Roddy Walsh, Shibu John, Samuel Wilkinson, Francesco Mazzarotto, Leanne E Felkin, Sungsam Gong, Jacqueline A L MacArthur, Fiona Cunningham, Jason Flannick, Stacey B Gabriel, David M Altshuler, Peter S Macdonald, Matthias Heinig, Anne M Keogh, Christopher S Hayward, Nicholas R Banner, Dudley J Pennell, Declan P O’Regan, Tan Ru San, Antonio de Marvao, Timothy J W Dawes, Ankur Gulati, Emma J Birks, Magdi H Yacoub, Michael Radke, Michael Gotthardt, James G Wilson, Christopher J O’Donnell, Sanjay K Prasad, Paul J R Barton, Diane Fatkin, Norbert Hubner, Jonathan G Seidman, Christine E Seidman, Stuart A Cook. Integrated allelic, transcriptional, and phenomic dissection of the cardiac effects of titin truncations in health and disease. Sci Transl Med. 2015 Jan 14;7(270):270ra6.
  2. Alan G Japp, Ankur Gulati, Stuart A Cook, Martin R Cowie, Sanjay K Prasad. The Diagnosis and Evaluation of Dilated Cardiomyopathy. J Am Coll Cardiol. 2016 Jun 28;67(25):2996-3010.