We explored why pathogenic variants are present in the gnomAD database for early-onset, severe, dominant conditions. Explanations identified for most but some likely due to incomplete penetrance though more study needed. 1/3

Five years ago I saw a 46 year-old 👧 at clinic who had a pacemaker (PM) implanted aged 43 due to complete AVB. No other 🫀 findings but her father and grand-father also received a PM at young age 🧐 (1/16)

"#HCM remains a shifty and unpredictable foe. But experts say they’ve learned to roll with its punches. 'Things have moved in the direction we hoped,' Maron says. “This is now a very treatable disease.” time.com/6961155/how-hy…

Beautiful images of a human heart 🫀 HiP-CT revealed histologic-level detail of the #myocardium, valves, coronary arteries, and cardiac conduction system. pubs.rsna.org/doi/full/10.11…

Our Cardiomyopathy Section at OHSU is growing. If you are BE/BC Cardiologist/Cardiology Fellow, interested in some or all cardiomyopathies, reach out. Tons of opportunities for research and other interests (imaging/hemodynamics/genetics). Pics from Sat #CardioTwitter #ACCCIT

In patients with #Takotsubo syndrome, late ventricular function recovery is associated with worse in-hospital outcomes and reduced long-term survival. bit.ly/3XB86SJ #JACC #HeartFailure Jorge Salamanca Viloria Ravi Vazirani Ballesteros

In 2019, our hypertrophic cardiomyopathy gene curation showed 2/3 of "HCM" genes had ltd/no evidence, with 8 sarcomere genes being key We are excited to share the ClinGen HCM re-appraisal > with 29 genes to be included! medrxiv.org/content/10.110…

#AcademicChatter #AcademicX

Not all that is apical sparing is amyloidosis!! 🎯 Comprehensive and multiparametric evaluation is key #echofirst

What a privilege getting the chance to meet in person with such an amazing researcher, inspiring leader and, most importantly, a genuinely good person… #HCMSummit8 #cardiogene

Rethinking the #genetic architecture of #HCM by A/Prof Jodie Ingles at #HCMSummit8 in beautiful Boston! It’s time to move beyond thinking solely about the ‘classic’ 8 #sarcomere #genes #cardiogene #cardiomyopathies

Why should I get a #genetic testing for my #HCM patient? Well, the question should be "why not?" Great talk by Anjali Owens It is useful for family screening, #phenocopies identification, potentially choose appropriate treatment and even as a prognostic tool #HCMSummit8

#CMR in #HCM... from #diagnosis to prognostication. Great overview of several potential uses and techniques by Milind Desai MD MBA at #HCMSummit8 Amazing meeting with a packed room!

The art of stratifying the risk of #SCD in #HCM and the eternal dilemma of #AHA/ACC vs #ESC guidelines approach... Finding the balance between sensibility vs specificity AND the important role of #clinical judgement. Fantastic presentation by Martin Maron, MD at #HCMSummit8

The future is bright for #HCM patients 🫀👩🏼‍🤝‍👨🏽 Ahmad Masri walks us through the future medical therapies for nonobstructive HCM at #HCMSummit8 What an incredible time to be part of this journey!

📰 Excited to share our latest paper abour a real gap in knowledge in cardiac amyloidosis: Sudden death The International Society Of Amyloidosis

Should betablockers (BB) be avoided in patients with ATTR amyloidosis? Come with me to explore our latest study. Long 🧵👇(1/15)

👉 ¿Sabías que la mejor manera de diagnosticar a un paciente Fabry en las fases más precozes, es completar el estudio familiar? 👉 Visita redfabry.es para obtener información sobre la enfermedad de Fabry #RedFabry #FabryLink

We analysed mitochondrial variation in cardiomyopathy patients from 100K genomes project and found the HCM causing m.4300A>G in 0.6% of (previously) genotype-"negative" HCM patients humgenomics.biomedcentral.com/articles/10.11… - shall we include it in the testing panels? Robert Pitceathly Will Macken

From the DSP-ERADOS network... Immunosuppression therapy potentially beneficial for the treatment of #myocarditis episodes in patients with DSP-ACM You gotta love the network's name! ahajournals.org/doi/abs/10.116…