Excited to have shared our analysis of ACMG SF genes in 144K Geisinger MyCode participants at #ACMGMtg22 . Detection rate increased by 35% between SFv2.0 to v3.0 (2.29% to 3.09%), PALB2: 8% of all cancer results. TTN: 26% of all cardio results (only A-band TTNtv). Geisinger Research

Thrilled to share our cohort of pediatric patients w/ cardiovascular disease associated w/ TTNtv at the Cincinnati Children's Research Symposium! Did you know TTN doesn’t *only* cause adult onset DCM? Pediatric patients are at risk and should be screened accordingly!

Interesting 📄:outcomes in DCM🫀by 🧬. Editorial highlights gene/variant curation issues and higher than expected genetic yield. Please don’t think of G+ DCM as a homogeneous group. Reality=nuanced. TTNtv, the majority player, behaves v differently to the others…JACC Journals

Clinical relevance of TTN variants in DCM:

🔵 Variants in TTN account for 10-25% of genetic DCM
🔵 TTN truncating variants (TTNtv) are found in ~10% of patients with peripartum and alcohol-related cardiomyopathies, suggesting presence of genetic susceptibility

#HFSA2022

Dr Wolfgang Linke discusses key pathomechanisms of TTNtv-dilated #cardiomyopathy
❤️truncated #titin  proteins stably expressed & disease relevant
❤️titin haploinsufficiency causes loss of #sarcomeres
❤️Gene correction/UPS inhibition reverses titin haploinsufficiency
#ESCCongress

Congratulations to our Dr. Renee Johnson who has won the Cardiovascular Genetic Disease Prize at #CSANZ19 ! We are so proud of you! Victor Chang Cardiac Research Institute #geneticcounsellor #heartdisease #DCM #TTNtv

Variantes de truncamiento en el gen de la tinina
•MCD: 15-20% tienen TTNtv = función mitocondrial alterada ⤴️fibrosis ⤵️masa miocárdica ⤴️arritmias malignas.
•Sin diferencias en el realce tardío
•Rol en la estratificación independiente de la fey?
academic.oup.com/eurheartj/arti…

Now available on line!!

EKG Changes in the Spectrum of TTNtv-Dilated Cardiomyopathy: Accuracy and Predictive Value of a New Index for LV-Changes Identification.

authors.elsevier.com/a/1d3if58KFprf…

Great team work. Thanks to all of you!

María Melendo Rafa Salguero Bodes Julian Palomino Doza Sección Cardiopatías Familiares y Genética CV SEC

Prof Diane Fatkin: clinical characteristics of TTNtv in #DCM #APHRS2017 #cardiogen

Titin truncating variants are associated with chemotherapy (particularly anthracycline) induced cardiomyopathy, adding to the range of environmental factors (incl. alcohol & pregnancy) that can induce cardiomyopathy in TTNtv carriers #cardiogen ahajournals.org/doi/10.1161/CI…

🚨NEW SINGLE ALER🚨 Phindi P new single is coming out on the 3rd of March titled ‘Ngobambelela’ which means I will hold on!!!

#Ngobambelela #MyWorshipSpace #3rdOfMarch #IAmPhindiP #ttnradio #ttntv

Individuals of European ancestry with hiPSI TTNtv⤵️
📍have an abnormal cardiac phenotype characterized by ⤵️ EF,
📍irrespective of the clinical manifestation of cardiomyopathy.
📍Associations with arrhythmias, including AF, were observed vía Circulation

Prof Diane Fatkin: Context and other factors should be considered when assessing TTNtv in #dcm and asymptomatic pts #APHRS2017

Cardiomyopathy-associated genes, particularly TTNtv, increased the risk for CCM, and adverse cardiac events. Genotype + chemotherapy dosage and traditional CV risk factors improves identification of cancer patients at highest risk for CCM. Circulation ahajournals.org/doi/10.1161/CI…

🔬 Exciting news! Our latest study, published in JACC Journals, investigates an understudied aspect of TTNtv – its impact on skeletal muscle. We report findings indicating an effect of TTNtv beyond the heart. Dive into the full study here: authors.elsevier.com/a/1i85H7tD%7EZ… 🧬

Study reveals that patients with truncating titin variants exhibit higher fat replacement in skeletal muscles, myopathic features in biopsies, with potential disruptions in autophagy and mitochondrial dynamics. Details: bit.ly/4atYlLb

#JACCHF #TTNtv #Cardiomyopathy #DCM

Dr Renee Johnson from @FatkinLab presenting in the genetics prize session on penetrance in TTNtv families. Nicely showing the collaborative nature of our Australian #cardiogen networks #CSANZ19

TTNtv + mortality: TTNtv shows a relatively mild disease course with significant excess mortality in elderly patients. With increasing life expectancy, TTNtv-associated morbidity and mortality will likely become more prevalent. ahajournals.org/doi/abs/10.116…

👉🏼 Risk of cardiovascular death in TTNtv carriers should not be underestimated 👈🏼
Prognostic implications of pathogenic truncating variants in the TTN gene #cardiotwitter #gene #GCchat sciencedirect.com/science/articl…

Este estudio (CIBERV)revela que la miocardiopatìa dilatada atribuible al #alcohol exhibe una significativa susceptibilidad genética(TTNtv), por lo que debería efectuarse un estudio genético para identificar a los familiares con riesgo de sufrirla.
sciencedirect.com/science/articl…