Surely it's time to expand HCM genetic testing beyond sarcomeric genes? JPH2 - 3% of cases in 🇫🇮 #5 gene (at least) FHOD3 - 6% of cases in 🇸🇮 🇧🇦 #3 gene CSRP3 / TRIM63 - 4.5% of cases in 🇪🇬 #5/6 genes ALPK3 - 1.5% of cases in 🇪🇺 but maybe ~5-6% in 🇮🇳/🇵🇰? etc.

Among self-reported Black individuals, male & female V142I transthyretin variant carriers faced similar & substantial risk for HF hospitalization, predominantly with reduced ejection fraction, & death, with steep age-dependent penetrance. ja.ma/4anxP5u #HeartFailure2024

#NDLVC & #DCM through🧬 & 🧲=distinct profiles NDLVC➡️ >arrhythmogenic gene variants & LV function DCM➡️ >nonarrhythmogenic gene variants & septal LGE 🚩Septal LGE predicts major arrhythmic events CMR & genetic testing's vital role in prognosis. #CardioTwitter #WhyCMR

Presented at the HFA meeting and simultaneous publication in @JAMA. In this study of 4 large cohorts (ARIC, MESA, REGARDS, WHI) pooling >23,000 self-reported Black participants, the prevalence of the V142I variant was 3.2%. jamanetwork.com/journals/jama/…

HCM CERTIFICATE: We are offering a Hypertrophic Cardiomyopathy Certificate of Completion! 🫀 This two-part program is designed for sonographers and fellows-in-training and is limited to 54 enrollments. bit.ly/3QAF1UM #ASE2024

A very useful tool as a quick reference for performing an #echocardiogram in #HCM patients, including technical considerations for performing a stress echoand the use of #UAE #cardiology #echofirst #cardiomyopathies

Check out ACC’s resources including the 🆕: HCM Exercise Prescription & Exercising w/ HCM infographic 👇 to support the care of your patients w/ #cvHCM. Learn more: bit.ly/3ConRDe #ACCAthleticHeart #SportsCardio

Percutaneous Left Atrial Appendage Closure for Stroke Prevention in Hypertrophic Cardiomyopathy Patients with Atrial Fibrillation Ethan Rowin heartrhythmjournal.com/article/S1547-…

Clinical relevance of the systematic analysis of #CNVs in the #genetic study of 11,647 patients with #cardiomyopathies 🧬🧑‍🔬 📊The overall yield was 0.8%, with a different yield depending on the type of cardiomyopathy (⬇️in #HCM, ⬆️ #ARVC). mdpi.com/2827472 #mdpigenes

“Low #GLA activity due to a #missense variant should not be considered as sufficient proof that #Fabry disease is the diagnosis, despite being a risk factor for both #cardiomyopathy and #CVD, but not the only (and monogenic) cause of this” nature.com/articles/s4143…

We explored why pathogenic variants are present in the gnomAD database for early-onset, severe, dominant conditions. Explanations identified for most but some likely due to incomplete penetrance though more study needed. 1/3

Five years ago I saw a 46 year-old 👧 at clinic who had a pacemaker (PM) implanted aged 43 due to complete AVB. No other 🫀 findings but her father and grand-father also received a PM at young age 🧐 (1/16)

"#HCM remains a shifty and unpredictable foe. But experts say they’ve learned to roll with its punches. 'Things have moved in the direction we hoped,' Maron says. “This is now a very treatable disease.” time.com/6961155/how-hy…

Beautiful images of a human heart 🫀 HiP-CT revealed histologic-level detail of the #myocardium, valves, coronary arteries, and cardiac conduction system. pubs.rsna.org/doi/full/10.11…

Our Cardiomyopathy Section at OHSU is growing. If you are BE/BC Cardiologist/Cardiology Fellow, interested in some or all cardiomyopathies, reach out. Tons of opportunities for research and other interests (imaging/hemodynamics/genetics). Pics from Sat #CardioTwitter #ACCCIT

In patients with #Takotsubo syndrome, late ventricular function recovery is associated with worse in-hospital outcomes and reduced long-term survival. bit.ly/3XB86SJ #JACC #HeartFailure Jorge Salamanca Viloria Ravi Vazirani Ballesteros

In 2019, our hypertrophic cardiomyopathy gene curation showed 2/3 of "HCM" genes had ltd/no evidence, with 8 sarcomere genes being key We are excited to share the ClinGen HCM re-appraisal > with 29 genes to be included! medrxiv.org/content/10.110…

#AcademicChatter #AcademicX