Peter van Tintelen
@jpvantintelen.bsky.social
clinical geneticist, Department of Genetics UMC Utrecht, the Netherlands. Professor of clinical genetics/cardiogenetics
https://research.umcutrecht.nl/researchers/peter-van-tintelen/
klinisch geneticus, hoogleraar klinische genetica/cardiogenetica
🇳🇱♿️
https://research.umcutrecht.nl/researchers/peter-van-tintelen/
klinisch geneticus, hoogleraar klinische genetica/cardiogenetica
🇳🇱♿️
Reposted by Peter van Tintelen
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
August 12, 2025 at 2:54 PM
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
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.
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.
‘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...
www.medischcontact.nl
August 14, 2025 at 10:11 PM
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.
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.
Reposted by Peter van Tintelen
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....
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…
www.victorchang.edu.au
August 13, 2025 at 2:43 AM
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....
Reposted by Peter van Tintelen
🗓️ 🧬 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!
July 11, 2025 at 4:19 PM
🗓️ 🧬 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!
Reposted by Peter van Tintelen
📢 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
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
June 23, 2025 at 5:40 AM
📢 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
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
Reposted by Peter van Tintelen
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...
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.
www.heartrhythmjournal.com
January 7, 2025 at 9:16 PM
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...
Reposted by Peter van Tintelen
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
#gcchat #cardiogen #hrs2025
April 26, 2025 at 9:15 PM
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
#gcchat #cardiogen #hrs2025
Reposted by Peter van Tintelen
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
December 18, 2024 at 3:54 PM
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
Reposted by Peter van Tintelen
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 🧬
December 16, 2024 at 5:23 PM
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 🧬
Reposted by Peter van Tintelen
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...
'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...
De novo enhancer creation by a noncoding mutation
Genetic investigation of a cardiac arrhythmia reveals a new noncoding Mendelian disease mechanism
www.gwasstories.com
December 1, 2024 at 4:27 PM
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...
'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...
Weer een inzichtelijke nieuwe column van Cora Aalfs van de afd. genetica @umcutrecht over Bardet Biedl Stndroom www.medischcontact.nl/actueel/laat...
‘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...
www.medischcontact.nl
December 2, 2024 at 7:03 PM
Weer een inzichtelijke nieuwe column van Cora Aalfs van de afd. genetica @umcutrecht over Bardet Biedl Stndroom www.medischcontact.nl/actueel/laat...
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...
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.
www.heartrhythmjournal.com
November 23, 2024 at 7:59 PM
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...