Lucky for me, I’ve had a front row seat to @PhoenixGrover88 journey to cardiovascular genetic counseling. After 4 years as a research assistant, it’s time for her next chapter. Today was her last day in the office with @DCMProject. 📢Go Phoenix!!! @osugcgp24
Interesting paper from @doctor_paz regarding the impact of sex on #DCM outcomes.
Here, the authors identify a novel paradox for females with DCM, observing an early increase in major #HF events despite milder #phenotype at presentation and less prevalent #LGE. 1/3
Next in our series of recessive cardiomyopathy genes: RPL3L. A great example of a gene harboring a spectrum of phenotypes across allele zygosity!
#recessiveCMgenes
See the full details in our recent
@NatureCVR study https://t.co/NJG0OZyqY5
@roddywalsh@franz_mazz
Here at Ohio State our gene therapist is in high demand! We have some genes ready for therapy (including two developed here in Columbus!) and others waiting for their therapies to be approved! @HallogeneT#Hallogene23 🎃
📢Online now @AJHGNews
📰The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimate penetrance for secondary findings
🧑🤝🧑@KathrynMcGurk & colleagues
👇
https://t.co/7IIUvWbRsM
The diagnostic yield of genetic testing in truly idiopathic VF is approx 10%, with arrhythmia and cardiomyopathy genetics contributing approx 50% of variants each @MJAckermanMDPhD#aphrs2023
International SIG Mentorship Program: Accepting Mentees
Application: https://t.co/09iRwhH3nE
Deadline: September 8, 2023
Check below and the website for more details! https://t.co/wfMBMDam1H
#GeneChat#ISIG#InternationalSIG#Mentorshipprogram#Resources
Patient has a known bicuspid valve followed by cardiologist.
Loses son to undiagnosed bicuspid aortopathy.
Patient never had a discussion about inherited nature of disease and family screening with cardiologist.
Rinse, repeat
#educatecardiologists#CVgenetics
Our latest findings from the @DCMProject recently published: Despite a higher estimated risk for familial DCM, detection of clinically actionable variants remains markedly lower in DCM patients of African Ancestry.
Assumptions regarding dilated cardiomyopathy genetic architecture derived from European ancestry may not apply to African ancestry; a current lack of case data limits clinical genetics care for patients of African ancestry with dilated cardiomyopathy. https://t.co/LNrxrECfDt