The original article by Johnson et al:

doi.org/10.1093/eurh...

"Titin and the mystery of cardiomyopathy incidence" - our editorial commentary on the recent mega-study of TTN-related dilated cardiomyopathy, with @seanjosephjurgens.bsky.social @escardio.bsky.social doi.org/10.1093/eurh... #cardiosky 🧬🫀

📝Check out our review “Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine”, out in @natrevcardiol.nature.com. We review the use of Multiplexed Assays of Variant Effect and variant effect predictors in cardiovascular disease.

IEVs are regularly identified in HCM clinical genetic testing but are currently inadequately classified and reported (as either VUS or likely benign). Important that we move beyond simple Mendelian approaches to incorporate more comprehensive genetic profiling and risk assessment.

IEVs can co-occur with rare Mendelian pathogenic variants, where they cause a severe phenotype including ⬆️ MACE, or in isolation where they have milder effects (age at diagnosis and wall thickness between genotype-positive and genotype-negative cases).

Comparing >10K HCM cases with ancestry-matched controls, we identified 14 IEVs occurring in 6% of cases. Importantly, in 2/3 of carriers, IEVs were in non-sarcomere genes.

While we focused on Euro-ancestry cases, gnomAD data can highlight variants more prevalent in other populations:

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 🧬🫀

This They Might Be Giants TONIGHT SHOW performance of "Birdhouse In Your Soul" from 1990 remains firmly lodged in my noggin thanks to the Tonight Show Band's full commitment and Doc Severinsen's incredible trumpeting... It took an already great song and made it transcendent.

🗓️ 🧬 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!

Metaphors don't come clearer than this...

TANK vs TESLA

"We've crushed fascism before and we'll crush it again"

- ⁠WW2 veteran Ken, 98, in the tank

Champions 😎

Superb!

This is high art

I was getting a bit irritated by ChatGPT increasingly hallucinating people when asked for peer reviewer suggestions. But I'm not sure its sarcastic response was necessary 😒

🧵 I’m excited to share our latest preprint! We studied 252 SCN5A variants found in patients with Brugada Syndrome by automated patch clamp. [1/7]

📝 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

Pls retweet: ‼️ Skilled in bioinformatics? ⁉️ Join our cardiogenomics team @ AmsterdamUMC in lovely Amsterdam 🌷🌷

We have a vacancy for bioinformatician with prospect of permanent appointment. Info 👉🏻
werkenbij.amsterdamumc.org/en/vacatures...

More about us and our approach here 👉🏻
tinyurl.com/5brcsazv

Does America have any idea what people around the world are thinking of it tonight? Where are the protests? Where is the opposition? Heartbreaking to see a nation's moral collapse like this.

The scenes in the Oval Office today will shame the US for decades. They’ll never be forgotten.

A world leader, fighting for his country against the 21st century’s Nazis, came to the US and was attacked & abused by a gangster regime siding with the fascist invaders.

A historic disgrace.

🧵 Polygenic scores in hypertrophic cardiomyopathy
📎 Paper: www.nature.com/articles/s41... in @naturegenet.bsky.social

We created PGS using sumstats from our linked GWAS study www.nature.com/articles/s41..., evaluating it across a range of clinical settings in several cohorts. 1/n

A new autosomal recessive cause of arrhythmic cardiomyopathy - variants in TAX1BP3. Published in Circ Res today!

URL: www.ahajournals.org/eprint/RCVCU...

@ahascience.bsky.social @ahajournals.bsky.social #cardiosky #genetics #medsky #cardiogen

Fantastic effort led by Jodie, Amber & Sophie. A few key takeaways:

- Robustness of process. From v1, moderate genes -> definitive, (many)limited genes -> disputed

- HCM becoming more complex - AR, semi-dominant, mito

- HCM not just a sarcomere gene disease anymore, guidelines need to catch up