📰Happy to share our new article Left ventricular cardiomyopathy due to CPT II hereditary deficiency. Keys to an infrequent diagnosis led by Lorena Herrador

🚨🧬 Registrations for the IV Bootcamp are now open! Limited to 30 spots—first come, first served. Acces the link in this thread.

🧬💖You are still on time to send an abstract or register with an early fee to the ESC CardioGenomics conference in Lisbon! Share you science with top researchers from across Europe 🇪🇺 🗓️Abstracts deadline: 16 September 25 🗓️Early fee registration: 13 October 25 See you there!

If you have to see one session about cardiogenetics from #ESCCongress, this is the one! Great debate by @jodieingles27.bsky.social, @jamesware.bsky.social & Perry Elliott esc365.escardio.org/esc-congress...

Our study on HCM intermediate effect variants (IEVs) is out today in Circulation, led by Juan Pablo Ochoa, Soledad García Hernandez and Luis De la Higuera Romero. IEVs are low frequency/penetrance variants with moderate effects sizes (OR:5-10). www.ahajournals.org/doi/10.1161/... #ESCcongress 🧬🫀

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate Effect Variants | Circulation

Background: Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous disorder primarily linked to rare variants in sarcomere genes, though recently certain non-sarcomeric genes have emerged as...

ahajournals.org

🗓️ 🧬 I am happy to announce that our next Bootcamp of Genetics for cardiologists will be an special edition in English. It will take place on May 8th 2026 in Barcelona just the day before ESC HFA congress so you can make the most of your trip!

🗓️ El próximo 2 de octubre hablaremos sobre genética de la amiloidosis hereditaria en un taller presencial en el Hospital Clínic de Barcelona Las inscripciones son gratuitas hasta completar aforo. Podéis apuntaros en la dirección de correo que aparece en el cartel Nos vemos!

Our paper now published! 🙌🏻🧬🫀 @alexbutters25.bsky.social @k-jt.bsky.social @njhenden.bsky.social @dgmacarthur.bsky.social @kathrynmcgurk.bsky.social @jamesware.bsky.social @sharday-penn.bsky.social @rdbagnall.bsky.social @garvaninstitute.bsky.social @escardio.bsky.social doi.org/10.1093/eurh...

A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets

Inherited cardiomyopathies, including hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathies affect ∼1 in 200–500 in the population. Gen

doi.org

Muchas gracias a @secardiologia.bsky.social por la invitación a participar en la XI reunión de CF. Tremenda organización y nivel de ponencias! Nos vemos el año que viene en Girona!!

📝 Excited to share our latest article on hereditary transthyretin amyloidosis (ATTRv) caused by the Val142Ile variant in Spain Here's a summary thread by the authors: @revespcardiol.bsky.social

Q: How many genes should be tested for patients with hypertrophic cardiomyopathy? A: 29 Excited to share our latest: Re-Appraisal of HCM genes by our ClinGen Hereditary CVD Gene Curation Expert Panel out today in @jaccjournals.bsky.social www.sciencedirect.com/science/arti...

Genes Associated With Hypertrophic Cardiomyopathy: A Reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac condition affecting ∼1 in 500 and exhibits marked genetic heterogeneity. Previously publishe…

sciencedirect.com

🧬🫀In a genotype-first context, no HCM observed over 10 yr median follow-up in pheno-negative carriers of P/LP HCM variants

Pradeep Natarajan@pnatarajanmd.bsky.social · 2y ago

Our paper led by J. Shin & A. Small evaluating the longitudinal penetrance of HCM alleles in the Mass General Brigham Biobank www.sciencedirect.com/science/arti... @jaccjournals.bsky.social #JACCAdv @broadinstitute.org @cgm-mgh.bsky.social @mgbresearch.bsky.social

🔔Abiertas las inscripciones para el III Bootcamp! 📅9-10 de mayo 2025 Aforo: 30 plazas por orden de inscripción @unibarcelona.bsky.social cardiosimhub.portaleira.com/courses/boot...