Alex Butters

Our second #eshg poster - another phenotype expansion, mucolipidosis III (lysosomal storage disorder) with cardiac features including LV/RV fibrofatty replacement, LVH and ventricular arrhythmia (+skeletal dysplasia) @njhenden.bsky.social @nataliepstewart.bsky.social

Our amazing variant curator @njhenden.bsky.social presenting at #ESHG2025 - homozygous variant in SECISBP2 causing a severe perinatal cardiomyopathy - expanding the phenotype spectrum of selenoprotein deficiency disorders @nataliepstewart.bsky.social @amybakerlms.bsky.social

This is how our zoom meetings roll... Rosie and Willow getting in on the lab management discussions. They think we should do more sequencing @alexbutters25.bsky.social #cardiosky #dogsky

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

💡 Sex-specific approaches are key in managing HCM.

Reporting sex-disaggregated data helps address disparities and guide tailored management strategies for better patient care.

Our findings emphasise the importance of understanding sex differences in HCM for improved care and outcomes.

📌 Key findings:
✅ Females have a higher risk of heart failure but a lower risk of ventricular arrhythmias (VA) & atrial fibrillation (AF) compared to males.
✅ MYBPC3 variants may protect females from heart failure but not males.
✅ ESC risk scores may underestimate VA risk in females.

🔍 We aimed to uncover how clinical and genetic factors contribute to sex differences in HCM outcomes

Women with HCM are often diagnosed later and face more severe disease than men, but why? 🤔 The reasons aren’t fully understood. What's clear, though, is that most clinical guidelines for HCM are based on research that predominantly includes male participants.

📖 Related work: bit.ly/41uqyj1

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

🚨 New paper alert! 🚨
Using SHaRe registry data, we explored how clinical & genetic risk factors influence heart failure, arrhythmias, and mortality in men & women with HCM.
This study, from my PhD, emphasises the need for sex-specific approaches to improve care.

📖 Read more: bit.ly/41vlF9r

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...

a beach with a lot of people on it ALT: a beach with a lot of people on it

We are HIRING a postdoc! Are you into cardiovascular genomics? Does gene discovery and rare variants get you out of bed!? OMG, me too! Unfortunately i can't apply for this role, but YOU CAN! Come join our research lab at @garvaninstitute.bsky.social Sydney 🇦🇺 #genesky www.seek.com.au/Garvan-Insti...

Another newbie here! I’m a clinical researcher and lab manager, with a focus on genetic heart disease and health disparities, based in Melbourne, Australia. Introducing my puppy, Rosie, my constant shadow 🐾🐶