Published in:
Open Access
01-01-2014 | Oral presentation
Titin: a phenotype-genotype descriptive comparison of dilated cardiomyopathy
Authors:
Arun J Baksi, Angharad M Roberts, James S Ware, Ankur Gulati, Rachel J Buchan, Roddy Walsh, Shibu John, Samuel Wilkinson, Aamir Ali, Ravi G Assomull, Paul J Barton, Sanjay K Prasad, Dudley J Pennell, Stuart A Cook
Published in:
Journal of Cardiovascular Magnetic Resonance
|
Special Issue 1/2014
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Excerpt
Cardiovascular magnetic resonance (CMR) imaging is the gold standard imaging modality for characterization of dilated cardiomyopathy (DCM). We recently identified genetic variants that truncate the giant protein Titin (TTN) accounting for up to 25% of DCM cases: a discovery that will increase the utility of genetic testing and family screening in DCM. However, the clinical consequences of TTN truncating variants (TTNtv) are unknown. Here, we integrated the power of CMR and capacity of next generation sequencing (NGS) to assess the relationship between genotype and phenotype in a non-ischemic DCM population. …
