Lightnews — Scholar-powered news

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Sep 9

Link: esc365.escardio.org/event/1952?_....

ESC Cardio Genomics 2025 on ESC 365

Seminar on by the to improve your practice and prepare for your exams.

esc365.escardio.org

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Sep 9

🧬💖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!

1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Sep 1

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

1

Reposted by Fernando de Frutos Seminario

Roddy Walsh 🇪🇺 🇺🇦 @roddywalsh.bsky.social · Aug 29

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

1 3

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Jul 11

You can find more information in our website.

Registration will open in September

cardiosimhub.portaleira.com/projects/bootc…

https://cardiosimhub.portaleira.com/projects/bootc…

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Jul 11

🗓️ 🧬 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!

1 2 2

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Jul 4

🗓️ 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!

Reposted by Fernando de Frutos Seminario

Jodie Ingles @jodieingles27.bsky.social · Apr 17

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

1 11 28

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 28

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!!

1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

You can access the article in the following link:
www.revespcardiol.org/en-hereditar...

Hereditary transthyretin amyloidosis caused by the Val142Ile variant in Spain

Introduction and objectivesIn recent years, several cases of hereditary transthyretin amyloidosis (ATTRv) due to the p.Val142Ile variant have been described in patients without African

www.revespcardiol.org

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

I would like to thank all the collaborators in this project and the Spanish section of ICC ( @secardiologia.bsky.social ) for providing funding to develop it through the Dr. William J. McKenna research grant.

1 1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

This study represents the largest cohort of patients with Val142Ile ATTRv with European ancestry provinding deeper knowledge about this entity

1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

A query to national biobanks revealed a general population frequency ranging from 0.0 to 0.12% in line with previous reports from southern European populations, suggesting that ATTRv Val142Ile might be more relevant that previously expected in southern European countries.

1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

A closer look at geographical distribution of patients showed a scattered distribution across the country which does not suggest an endemic hotspot despite cases were more prevalent in the Mediterranean Basin.

1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

Tafamidis was initiated in 38 patients during follow-up (73.7% 20 mg & 26.3% 61 mg). After 1 year of treatment, 14 patients (38.9%) met the combined endpoint, with 12 cases attributed to disease progression (NTProBNP or diuretic increase) and 2 cases to cardiovascular death.

1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

The phenotypic characteristics observed in our cohort were similar to those reported in patients of African ancestry previously published including late age of onset, male predominance and cardiomyopathy involvement over neurologic or ophthalmologic involvement.

1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

🚀A step increase in new diagnosis was described in recent years probably coupled with an increased disease of ATTR-CM among cardiologist.

1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

The final cohort was comprised by 164 participants including 75 probands and 89 relatives. To our surprise, only 8% of probands reported African ancestry whereas 89% had European (Spanish) ancestry.

1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

To describe its impact in the Spanish population, we designed a retrospective study involving 18 centers with expertise in ATTR across the country.

1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

Despite the Val142Ile variant has been widely described in ATTRv patients with African ancestry there are recent reports from patients with European and Asian ancestry suggesting a broader extension of the disease.

1

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Mar 8

📝 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

1 2 2

Reposted by Fernando de Frutos Seminario

Jodie Ingles @jodieingles27.bsky.social · Feb 18

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

1 28 52

Reposted by Fernando de Frutos Seminario

Ana Morales, MS, CGC, PhDc @amoralescgc.bsky.social · Feb 6

🧬🫀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 · 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

2 3

Fernando de Frutos Seminario @fdefrutossemi.bsky.social · Nov 24

🔔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

1