iiinova — where your digital self keeps evolving

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · 29/12/2025

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

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Fernando de Frutos Seminario @fdefrutossemi.bsky.social · 11/11/2025

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

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Fernando de Frutos Seminario @fdefrutossemi.bsky.social · 09/09/2025

🧬💖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!

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Fernando de Frutos Seminario @fdefrutossemi.bsky.social · 01/09/2025

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...

esc365.escardio.org

ESC - Online Congress Platform

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Reposted by Fernando de Frutos Seminario

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · 29/08/2025

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 🧬🫀

ahajournals.org

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...

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Fernando de Frutos Seminario @fdefrutossemi.bsky.social · 11/07/2025

🗓️ 🧬 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!

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Fernando de Frutos Seminario @fdefrutossemi.bsky.social · 04/07/2025

🗓️ 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!

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Fernando de Frutos Seminario @fdefrutossemi.bsky.social · 28/03/2025

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!!

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Fernando de Frutos Seminario @fdefrutossemi.bsky.social · 08/03/2025

📝 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

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Reposted by Fernando de Frutos Seminario

Jodie Ingles @jodieingles27.bsky.social · 18/02/2025

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...

sciencedirect.com

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…

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Reposted by Fernando de Frutos Seminario

Ana Morales, MS, CGC, PhDc @amoralescgc.bsky.social · 06/02/2025

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

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Fernando de Frutos Seminario @fdefrutossemi.bsky.social · 24/11/2024

🔔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...

cardiosimhub.portaleira.com

Bootcamp III. Interpretación de variantes genéticas para cardiólogos

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