J.Peter van Tintelen
3.3K posts

J.Peter van Tintelen
@jpvantintelen
clinical geneticist, department Genetics. professor of clinical genetics; klinisch geneticus, hoogleraar klinische genetica @umcugenetica
UMC Utrecht, the Netherlands Katılım Mart 2011
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Honored to be selected as a 2026 American Society for Clinical Investigation (ASCI) Emerging-Gen (E-GEN) Awardee.
Grateful to my mentors, collaborators, and patients who make our work meaningful. Looking forward to learning from the ASCI community.
ASCI@the_asci
The ASCI is proud to announce our 2026 Early-Career Awardees! The complete list of awardees: E-Gen: buff.ly/p9Y25zR YPSA: buff.ly/E81xVOZ Congratulations to our award recipients and the institutions they represent!
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🌍 International LMNA community: Sponsored walk for LMNA cardiac research.
📅 Reg opens Feb 9, 10:00 CET (very limited).
💙 Limited tickets (€120) + help with paid accommodation for international guests.
📩 Email us to get on the list.
🎥 youtu.be/9cb8qGDb7UM?si…
#LMNAcardiac

YouTube



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🔥 Grant applications now open for the ESC Hypertrophic Cardiomyopathy Course 2025.
A unique chance to deepen your HCM expertise with leading international faculty.
🔗 esc365.escardio.org/event/2138 @SSharmacardio @silviacastelle1 @IacopoOlivotto @jckaski
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Genome-First Arrhythmogenic Right Ventricular Cardiomyopathy Penetrance Is Not Correlated With Lifetime Exercise History (brief report)
sciencedirect.com/science/articl…
#excercise #genomescreening #CMP
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🚨 New genetics insight on bicuspid aortic valve (BAV)!
A large multi-population GWAS from the Million Veteran Program has identified five novel loci for BAV — 🧬 PRDM6, TGFBI, LPA, ADAMTSL1, and ATXN2 — expanding our understanding of congenital valve biology and aortopathy risk.
🔍 The study also shows strong shared genetic architecture between BAV, thoracic aortic aneurysm/dissection, and aortic stenosis.
📊 Age-stratified analyses reveal that LPA plays a stronger role in stenotic progression rather than congenital valve morphology.
💡 These findings reinforce current recommendations for lifelong aortic surveillance and move us closer to genetically informed risk stratification.
#BAV #Genetics #GWAS #Aortopathy #AorticStenosis #PrecisionMedicine #Cardiology #GenomicMedicine #ResearchUpdate #CongenitalHeartDisease #MVP #ValveDisease #ScienceNews #CardioGenomics
ahajournals.org/doi/abs/10.116…
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Exercise intensity and cardiac disease development in carriers of titin truncating variants
academic.oup.com/eurjpc/article…
#DCM #Athlete #exercise #Sportscardiology

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💙 Last week, LMNAcardiac.org & the DCM Foundation hosted a webinar on transforming cardiomyopathy care.
🧬 Genetics saves lives.
🤝 Support networks matter.
Read the recap & watch the replay: lmnacardiac.org/webinar-recap-…
#Cardiomyopathy #LMNA #GeneticTesting #HeartHealth
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🔴 Titin-related familial dilated cardiomyopathy: factors associated with disease onset @ESC_Journals #Cardiology #CardioEd #FOAMed


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💙 Most people have never heard of Arrhythmogenic Cardiomyopathy (ACM), also known as Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)—help us change that.
Visit sads.org/get-involved/a… to learn more.

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Clinical care of family members of patients with dilated cardiomyopathy: a clinical consensus statement just published in #EHJ 👉 ow.ly/qe5250WT4fq
@RoccoMontone @ehj_ed #cardiomyopathies #DCM

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Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants | Circulation ahajournals.org/doi/10.1161/CI…
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Robert Tieman dus. Wat heeft die in hemelsnaam bewezen van dit dossier te weten? Een ingenieur met de Hogere Zeevaartschool als alma mater.
Skipr@skipr
Dit wordt de vervanger van VWS-minister Daniëlle Jansen dlvr.it/TMfCMx
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Nieuwe studie in npj Digital Medicine! Angst triggert klikken, liefde bouwt community—echte verhalen zorgen voor betrokkenheid. Trots op Myrthe Kuipers & team @UvA_Amsterdam @amsterdamumc . Lees meer: afiponline.org/nl/artikelen/n…
#boezemfibrilleren #onderzoek #stichtingafip
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CRY has developed a series of booklets that contain personal stories from bereaved mums, dads, siblings, partners and friends. The series focuses on the grief specific to the relationship an individual has with the deceased. Read online here: c-r-y.org.uk/support-resour…

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#GeneticWorkforce limitations call for paradigm shifts. “Genetics First,” program empowers non-geneticist physicians to play an active role in the process of genetic consultation and testing. bit.ly/4lEDv0p #GeneticEducation #TestingAccessibility

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Nieuwe blog van Cora Aalfs @UMCUgenetica in
Medisch contact:
medischcontact.nl/opinie/blogs...
Sofie (33) heeft Noonan syndroom. De medische feiten kende ze al vroeg, maar pas jaren later ontdekte ze hoe belangrijk het is om óók over emoties en vermoeidheid te praten.
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Personalized Sudden Cardiac Death Risk Prediction in Genetic Heart Diseases: Beyond One-Size-Fits-All #OpenAccess
heartrhythmjournal.com/article/S1547-…

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@Sports_CardioNL Some additional information on exercise in PLN R14Del arrhythmogenic cardiomyopathy: see link.springer.com/article/10.100…
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Exercise Prescription in Arrhythmogenic Cardiomyopathy: Finding the Right Balance Between Risks and Benefits
ahajournals.org/doi/10.1161/JA…
#ARCV #Exercise #Sportscardiology

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Major arrhythmias in non-dilated left ventricular cardiomyopathy: a novel prediction score
academic.oup.com/eurheartj/adva…
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We are calling for papers for a special issue of EJHG exploring the role of DNA in public health screening.
We welcome:
-Original research
-Reviews
-Commentaries
Deadline: December 31st, 2025
Submit via: nature.com/collections/dj…
@eshgsociety
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