“Must-grab” labs in cardiogenic shock
Standard labs aren't enough for a failing heart! Elevated LFTs signal congestive hepatopathy and right-heart failure. Use lactate as your "perfusion thermometer" and watch BNP/Troponin for myocardial stress. Don't ignore the other organs! #ICU #MedEd #Cardiogen

Selfy of me with the meeting attendees sat at tables in the background, just before giving my talk about genetic testing

View from near the front of the symposium of Professor Jon Skinner giving a presentation with a screen depicting the physiological relationship between the various proteins associated with cardiac inherited diseases

Last week was one of my favorite days of the year. New Zealand's Heart Rhythm Society meeting. That includes an afternoon symposium where we teach the various electrophysiology professionals of the country all about cardiac inherited diseases. #cardiogen

At #csanz2025 but getting to watch my awesome genetic counsellor, Amy Baker, present our Elusive Hearts study data at #hgsa2025 via FaceTime #cardiogen #goteam 🏆

A/Prof Belinda Gray presenting on genetic testing in athletes at #csanz2025 👏🏻 #cardiogen #cardiosky www.heartrhythmjournal.com/article/S154...

Titin-related familial dilated cardiomyopathy: factors associated with disease onset - PubMed Disease onset in TTNtv-associated familial DCM is dependent on individual patient context and is potentially modifiable by risk factor management and prophylactic therapeutic intervention.

Awesome to see this huge paper out and being presented by @fatkin-lab.bsky.social at #csanz2025 Factors influencing penetrance among TTNtv carriers @victorchang.edu.au #cardiogen #cardiosky academic.oup.com/eurheartj/ad...

Awesome talk by Dr Cindy James on the many findings from the 800+ DSP-erados network 👏🏻 DSP cardiomyopathy certainly a good example of why knowing genotype is so important
#gcchat #cardiogen #hrs2025

Genetic counseling is standard of care for families with inherited cardiac conditions. Great talk from @brittmurray.bsky.social opening our #hrs2025 #cardiogen session #cardiosky

Enjoying our luncheon for #cardio #geneticcounselors at #HRS2025! @heartrhythmsociety.bsky.social #GCChat #CardioGen @saracherny.bsky.social

Excited to share another paper from my PhD, out today in the EHJ!!
#cardiogen #genechat
@jodieingles27.bsky.social
@garvaninstitute.bsky.social

Well done to @alexbutters25.bsky.social on another PhD study out in the wild! #cardiogen #cardiosky

@jodieingles27.bsky.social @garvaninstitute.bsky.social @circgpm.bsky.social
#CardioGen #CardioSky

Recognising rare cardiovascular disease: the importance of red flags | British Journal of Cardiac Nursing In the UK and the European Union, a rare disease is defined as a condition affecting less than one in 2000 people. Approximately 7000 diseases are classified as rare and around 300–400 million people ...

The British Journal of Cardiac Nursing focused on rare diseases n December, and the articles are open access for three months. Here is ours featuring inheritable heart disease. www.magonlinelibrary.com/doi/full/10....

...and the editorial...
www.magonlinelibrary.com/doi/full/10....

#cardiogen

Check out this great FREE online event happening in March! Excellent international speakers and sessions on hereditary cardiovascular diseases - put together by Ruxandra Jurcat, Iacopo Olivotto, Elena Arbelo and Bogdan Popescu #medsky #cardiosky #cardiogen #genechat curs-cardiogenetica.ro

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

Our lab members gathered around a table with wine!

In some positive news, we have quite a few newbies joining our team over the next few weeks! Very excited for a big year of research #cardiogen #genechat 🫀 🧬
@laurayeates1.bsky.social
@lauracatto.bsky.social
@alexbutters25.bsky.social
@nataliepstewart.bsky.social

Endurance Exercise Promotes Episodes of Myocardial Injury in Individuals with a Pathogenic Desmoplakin (DSP) Variant Desmoplakin (DSP) variants are associated with left-predominant or biventricular arrhythmogenic cardiomyopathy. Exercise promotes penetrance and sustained ventricular arrhythmias (VA) in right-sided arrhythmogenic right ventricular cardiomyopathy, but its effect is unknown in DSP variant carriers.

It's finally here! The #DSP exercise data you've all been waiting on! TLDR: different appearance than in PKP2 #ACM, but intense exercise not good in DSP ACM either. #cardiogen www.heartrhythmjournal.com/article/S154...

A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand | Circulation BACKGROUND: Brugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants in the SCN5A gene encoding the Nav1.5 sodium channel and common nonc...

Our study on an SCN5A enhancer variant that is a major cause of Brugada syndrome in Thailand has just been published in the first @ahajournals.bsky.social Circulation issue of 2025 - also now open access! www.ahajournals.org/doi/full/10.... #cardiosky #cardiogen 🧬

Interesting case study of a homozygous PLN variant (p.L39*) in a patient with severe DCM requiring HTx (het parents had LV hypertrophy). onlinelibrary.wiley.com/doi/10.1111/... Just the third such case reported (AFAIK) - PLN has very complex geno-pheno associations... #cardiogen #cardiosky 🧬

Huge congrats Dr @laurayeates1.bsky.social 👏🏻 another GC with a PhD 💁🏻‍♀️

And, this is our final USyd student to graduate - it’s all Garvan/UNSW from here 💥 #genechat #cardiosky #cardiogen

Factors Associated With Phenotypic Variability in HCM

A little editorial I wrote for #JACCHF on the challenges of identifying modifier genetic factors for hypertrophic cardiomyopathy. @jaccjournals.bsky.social authors.elsevier.com/a/1kCHM7tD%7... (<- free access link until Jan 21st) #cardiogen

Not only did we get the awesome Marlies van Lingen visit us at @garvaninstitute.bsky.social today, but she brought us stroopwaffles 🧇❤️ @laurayeates1.bsky.social @jpvantintelen.bsky.social #cardiogen

My science posting has gotten a bit rusty... The trabeculation paper is from @kathrynmcgurk.bsky.social and @drdeclanoregan.bsky.social . The DCM paper is from @seanlzheng.bsky.social and @tomlumbers.bsky.social #CardioSky #CardioGen

Ive taken this job of finding all of our cardiovascular genomics people and adding them to this starter pack, very seriously. Many newbies just added! And don’t forget our hashtag: #cardiogen

#cardiosky #medsky #genechat
go.bsky.app/4NjCKhB

Awesome work, @kathrynmcgurk.bsky.social 👏🏻 👏🏻 #cardiogen #cardiosky

Updated: cardiovascular genetics starter pack… go.bsky.app/4NjCKhB #cardiogen #genechat #cardiosky #medsky #genesky

Working with talented trainees offers the chance to move the science forward while showing them how advancing genomic medicine in cardiology can help children @ahascience.bsky.social #AHA24 #cardiosky #medsky #cardiogen

Landstrom and Chahal labs at AHA24

When cardiovascular genetics labs collide! Great to have a joint breakfast with Anwar Chahal and our respective teams at #AHA24 @ahascience.bsky.social

One of the best things about this job is the people - from amazing trainees to colleagues

#CardioSky #MedSky #cardiogen

Hi to many many new people! Some useful starter packs (ie find your friends and other people to follow).

#cardiogen - cardiovasc genetics. ⬇️

#cardiosky - @load-dependent.bsky.social created one for cardiology peeps

#genechat - @j9austin.bsky.social has one for GCs

Done. It wouldn’t let me add you before while your profile wasn’t complete! Look up #cardiosky #cardiogen #medsky #genechat #genesky for lots of accounts you’ll recognize