Figure 7.

Pathomechanisms observed in human cardiomyopathy due to a TTNtv. (A) Titin domain architecture (according to human titin meta-transcript) and TTN exon usage in adult human hearts.¹⁵⁰ PSI above 90% indicates (nearly) constitutive expression, lower PSI values are due to differential splicing. (B) Location of heterozygous TTNtv detected by next-generation sequencing in the general population and in DCM patients, and odds ratio indicating the chance to get DCM if the TTNtv is in a specific titin region (marked by red boxes).¹⁵⁰ (C) Recently identified pathomechanisms of human TTNtv-DCM.⁴ (D) Specific treatment strategies suggested.⁴