#CardioGenetics

YuChen Chang

@yuchen-chang.bsky.social

3 weeks ago

Present our work on a #TTN_missense variant as the cause of familial #DCM at #LorneGenome2026.

Key Point:
TTN missense require careful integration of clinical phenotyping, and structured ACMG evaluation.

TTN missense ≠ benign by default - context matters.

#CardioGenetics #InheritedHeartDisease

@drdimitargeorgiev.bsky.social

7 months ago

Нашата компания NM Genomix предлага редица кардиогенетични тестове. | Dimitar Georgiev Нашата компания NM Genomix предлага редица кардиогенетични тестове. Най-важните са тези, които са свързани със заболяванията на сърдечния мускул. Ранната диагностика позволява предпазване от внезапна ...

#cardiogenetics - www.linkedin.com/posts/lifesc... - генетиката помага за предпазване от внезапна смърт. Следете @nmgenomix.bsky.social за повече новини

@drdimitargeorgiev.bsky.social

7 months ago

Днес ще завърша серията за кардиогенетиката с фамилната хиперхолестеролемия. | Dimitar Georgiev Днес ще завърша серията за кардиогенетиката с фамилната хиперхолестеролемия. Откриването на лекарство за това заболяване е феномен, свързан с поголовното генетично тестване на населението на Исландия ...

#cardiogenetics #familialhypercholesterolemia- www.linkedin.com/posts/lifesc... -follow @nmgenomix.bsky.social for more news related to cardiogenetics

Francisco De La Vega

@ribozyme.bsky.social

11 months ago

At #ACMGMtg25, I’ll present a poster on StrataRisk’s performance in 300 familial hypercholesterolemia (FH) patients from the Mexican FH Registry. Our findings highlight the polygenic burden in FH, especially in patients without rare variants. #CardioGenetics 5/7

Francisco De La Vega

@ribozyme.bsky.social

11 months ago

At #ACMG2025, I’ll present a poster on StrataRisk’s performance in 300 familial hypercholesterolemia (FH) patients from the Mexican FH Registry. Our findings highlight the polygenic burden in FH, especially in patients without rare variants. #CardioGenetics 5/7

MDPIOpenAccess

@mdpiopenaccess.bsky.social

1 year ago

We are pleased to announce that Cardiogenetics (ISSN: 2035-8148) was selected for coverage in the Scopus indexing database in February 2025.

Find out more about submitting a manuscript to Cardiogenetics: buff.ly/c4vI3ad

#mdpi #openaccess #cardiogenetics #research

Shicheng Guo

@shihcheng.bsky.social

1 year ago

Reproductive options and genetic testing for patients with an inherited cardiac disease | Nature Reviews Cardiology In the past decade, genetic testing for cardiac disease has become part of routine clinical care. A genetic diagnosis provides the possibility to clarify risk for relatives. For family planning, a genetic diagnosis provides reproductive options, including prenatal diagnosis and preimplantation genetic testing, that can prevent an affected parent from having a child with the genetic predisposition. Owing to the complex genetic architecture of cardiac diseases, characterized by incomplete disease penetrance and the interplay between monogenic and polygenic variants, the risk reduction that can be achieved using reproductive genetic testing varies among individuals. Globally, disparities, including regulatory and financial barriers, in access to reproductive genetic tests exist. Although reproductive options are gaining a prominent position in the management of patients with inherited cardiac diseases, specific policies and guidance are lacking. Guidelines recommend that prenatal diagnosi

Genetic testing transforms cardiac care, offering prenatal and preimplantation options to prevent inheriting heart diseases. Revolutionize family planning! ❤️🧬 #CardioGenetics PMID:39289540, Nat Rev Cardiol 2025, @NatRevCardiol https://doi.org/10.1038/s41569-024-01073-3 #Medsky 🧪

Julie De Backer

@juliedebacker.bsky.social

1 year ago

Online - free registration - excellent program!
Consider joining 👇if you have in interest in #cardiogenetics 🧬🫀

News Medical

@newsmedical.bsky.social

1 year ago

New study reveals rare genetic variants significantly increase atrial fibrillation risk Researchers identified rare genetic variants that significantly increase the risk of atrial fibrillation, enhancing AF risk stratification by combining these with polygenic risk scores.

New study reveals rare genetic variants significantly increase atrial fibrillation risk 🔬🧬❤️ www.news-medical.net/news/2024062... #Genetics #AtrialFibrillation #Heart #Health #CardioGenetics #HeartDisease #Medical #CardiovascularHealth #AFib