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Left ventricular cardiomyopathy due to CPT II hereditary deficiency. Keys to an infrequent diagnosis

We hope that you find it useful for your patients. You can access the article in OA in the following link: sciencedirect.com/science/arti...

CPT II hereditary deficiency is an autosomal recessive mitochondrial disease with frequent heart involvement that requires a high degree of suspicion to reach a diagnosis

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

cardiosimhub.portaleira.com/projects/boo...

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

ESC Cardio Genomics 2025 on ESC 365 Seminar on by the to improve your practice and prepare for your exams.

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

🧬💖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...

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...

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 🧬🫀

You can find more information in our website.

Registration will open in September

cardiosimhub.portaleira.com/projects/bootc…

🗓️ 🧬 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!

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

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...

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!!

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

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.

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

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.

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.

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.

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.

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

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.

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

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.

📝 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

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…

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...

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

🔔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...