Peter van Tintelen

And a great presentation on intermediate effect variants by @roddywalsh.bsky.social

11.10.2025 23:19 — 👍 1    🔁 0    💬 0    📌 0

image of heart - Spontaneous Coronary Artery Dissection - SCAD - gVasc Research Study

gVasc is a research study trying to find out if there are genetic factors behind why SCAD happens🫀Click the link in our bio or head to gvascstudy.org to learn more about our study and to participate! #gvasc #SCAD #research #heart #hearthealth #heartresearch #scadalliance @scadalliance.bsky.social

12.08.2025 14:54 — 👍 5    🔁 3    💬 0    📌 1

‘Dokters spraken niet over emoties en vermoeidheid’ ‘Na mijn geboorte werd al snel duidelijk dat er iets niet goed was. Ik had een cardiomyopathie, wilde niet eten en na enkele maanden bleek ik doof te zijn. Het eerste jaar kreeg ik regelmatig sondevoe...

Nieuwe blog van Cora Aalfs in
Medisch contact:
www.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.

14.08.2025 22:11 — 👍 1    🔁 0    💬 0    📌 0

Dilated Cardiomyopathy Discovery in Gene Mutations Institute scientists make world-first discovery lifestyle and clinical factors contribute to an earlier diagnosis of dilated cardiomyopathy in those with…

A new global study reveals lifestyle changes could delay or prevent the onset of dilated cardiomyopathy (DCM) by decades. The study led by the Institute's Prof Diane Fatkin also revealed people with a mutation in the TTN gene face a 21 fold increased risk of developing DCM: www.victorchang.edu....

13.08.2025 02:43 — 👍 2    🔁 3    💬 0    📌 1

🗓️ 🧬 I am happy to announce that our next Bootcamp of Genetics for cardiologists will be an special edition in English. It will take place on May 8th 2026 in Barcelona just the day before ESC HFA congress so you can make the most of your trip!

11.07.2025 16:19 — 👍 2    🔁 2    💬 1    📌 0

📢 Are you a genetic counsellor doing a PhD—or thinking about one?
The GC-PhD peer support group (of the GCR Connect Committee) is hosting a professional development workshop on Thurs 14 Aug, 2–4pm, at the Garvan Institute, Sydney. 🧬 #GeneticCounselling #PhD

EOI: forms.office.com/r/0v5r1uaZrP

23.06.2025 05:40 — 👍 2    🔁 3    💬 1    📌 2

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...

07.01.2025 21:16 — 👍 5    🔁 2    💬 0    📌 0

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

26.04.2025 21:15 — 👍 9    🔁 3    💬 0    📌 0

Hey GCs, are you using an employer-provided healthcare-specific AI tool at work? I'm reaching out on behalf of a group of GCs who are planning a submission for the NSGC AC on this topic. You don't have to be far in your adoption or a pro! Please DM me or reply in this thread #GeneChat

18.12.2024 15:54 — 👍 7    🔁 3    💬 0    📌 0

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 🧬

16.12.2024 17:23 — 👍 3    🔁 3    💬 0    📌 0

De novo enhancer creation by a noncoding mutation Genetic investigation of a cardiac arrhythmia reveals a new noncoding Mendelian disease mechanism

Another beautifully-written piece by @doctorveera.bsky.social

'One of the biggest mysteries of human genome... is the biological mechanism through which noncoding variants influence disease-risks and trait variations.'
💯

www.gwasstories.com/p/de-novo-en...

01.12.2024 16:27 — 👍 6    🔁 5    💬 1    📌 0

‘Waarom moet alles altijd zo snel, mama?’ Jayke (11), de zoon van Nienke (46), heeft het Bardet-Biedl syndroom. Dit is een autosomaal recessieve aandoening, veroorzaakt door een dysfunctie van de cilia (trilharen). Belangrijke kenmerken van h...

Weer een inzichtelijke nieuwe column van Cora Aalfs van de afd. genetica @umcutrecht over Bardet Biedl Stndroom www.medischcontact.nl/actueel/laat...

02.12.2024 19:03 — 👍 1    🔁 0    💬 0    📌 0

Thank you @jodieingles27.bsky.social and @laurayeates1.bsky.social for having our talented PhD student Marlies van Lingen MD as a guest! I hope she had the chance to present some of her work on the ethics of digitization in genetics and our “DNA-poli” project. 🍪🇦🇺🇳🇱

25.11.2024 03:54 — 👍 2    🔁 1    💬 0    📌 0

Long-term prognosis of patients with an SCN5A loss-of-function variant and progressive cardiac conduction disorder or Brugada syndrome The long-term prognosis of patients with a loss-of-function variant in the cardiac sodium channel gene SCN5A is unknown.

Online now: Long-term prognosis of patients with an SCN5A loss-of-function variant and progressive cardiac conduction disorder or Brugada syndrome www.heartrhythmjournal.com/article/S154...

23.11.2024 19:59 — 👍 1    🔁 0    💬 0    📌 0