Titin Variants in Dilated Cardiomyopathy

TTN Transcript / Exon Structure & Truncating Variants in Cardiomyopathy Studies

Titin Cohort Studies

Summary of the major published studies investigating the role of titin truncating variants in dilated cardiomyopathy (click on the study description for more details).

CohortStatusSizeTTNtv %
2016 - DCM cohort describing recovery of cardiac function after LVAD support
DCM-REC - DCM patients who recovered cardiac functionDCM3020.0%
DCM-NON-REC - DCM patients who did not recover cardiac functionDCM439.3%
2016 - Assessment of TTNtv in children and adolescents with DCM
CHILDREN - Children with DCM (<15 years) from several centresDCM515.9%
ADOLESCENT - Adolescents with DCM (15 - 21 years) from several centresDCM3122.6%
2015 - Science Translational Medicine paper describing the distribution of TTNtv in DCM, healthy subjects and population controls.
DCM-ALL - All patients from the three DCM cohortsDCM69217.8%
CTRL-ALL - All individuals in two healthy control cohortsCONTROL9751.7%
POP-ALL - All individuals in two population studies (FHS+JHS)CONTROL36031.5%
2014 - DCM cohort mutation data from Partners Healthcare, titin sequenced in a minority of cases.
ALL-CASES - Broad referral population to Partners HealthCareDCM15614.7%
2014 - Peripartum cardiomyopathy (PPCM) cohort from Netherlands, Germany and South Africa
PPCM - PPCM cases from Netherlands (11), Germany (6) and South Africa (1)PPCM1838.9%
2012 - New England Journal of Medicine paper describing titin truncations as a major cause of DCM.
DCM-ALL - All patients from the three DCM cohortsDCM31221.8%
HCM - Brigham and Women's Hospital / Mayo ClinicHCM2310.9%
Controls - Subjects without cardiomyopathy (multiple sites)CONTROL2492.8%