Fernando de Frutos Seminario
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fdefrutossemi.bsky.social
Fernando de Frutos Seminario
@fdefrutossemi.bsky.social
12 followers 22 following 22 posts
Inherited Cardiovascular Diseases, Genetics and Advanced Heart Failure at Hospital Universitari de Bellvitge
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fdefrutossemi.bsky.social
🚨🧬 Registrations for the IV Bootcamp are now open! Limited to 30 spots—first come, first served. Acces the link in this thread.
November 11, 2025 at 4:29 PM
fdefrutossemi.bsky.social
🧬💖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!
September 9, 2025 at 6:48 PM
fdefrutossemi.bsky.social
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...
ESC - Online Congress Platform
esc365.escardio.org
September 1, 2025 at 8:28 PM
Reposted by Fernando de Frutos Seminario
roddywalsh.bsky.social
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...
www.ahajournals.org
August 29, 2025 at 4:46 PM
fdefrutossemi.bsky.social
🗓️ 🧬 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!
July 11, 2025 at 4:19 PM
fdefrutossemi.bsky.social
🗓️ 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!
July 4, 2025 at 2:02 PM
Reposted by Fernando de Frutos Seminario
jodieingles27.bsky.social
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
April 17, 2025 at 3:46 AM
fdefrutossemi.bsky.social
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!!
March 28, 2025 at 1:56 PM
fdefrutossemi.bsky.social
📝 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
March 8, 2025 at 12:45 PM
Reposted by Fernando de Frutos Seminario
jodieingles27.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…
www.sciencedirect.com
February 18, 2025 at 6:14 AM
Reposted by Fernando de Frutos Seminario
amoralescgc.bsky.social
🧬🫀In a genotype-first context, no HCM observed over 10 yr median follow-up in pheno-negative carriers of P/LP HCM variants
pnatarajanmd.bsky.social Pradeep Natarajan @pnatarajanmd.bsky.social · Feb 5
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
February 6, 2025 at 2:21 AM
fdefrutossemi.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...
Bootcamp III. Interpretación de variantes genéticas para cardiólogos
cardiosimhub.portaleira.com
November 24, 2024 at 8:27 PM