📕Month Review on Fabry Disease (FD) via @RCMjournal

🟡Mechanisms Beyond Storage & Forthcoming Therapies
🟡Cardiac Imaging
🟡Echocardiography #echofirst
🟡Cardiac Magnetic Resonance #WhyCMR

📂OPEN LINKS⬇️ & Thread🧵(1/13)
@mauripieroni72 @torresviera @SVCardio @DeBakeyCVedu ✅FD X-Linked inherited Lysosomal Storage disorder
✅Mutations (>900) alfa-GAL gene (GLA)
✅🚫or⬇️ alfa-GAL A enzyme activity
✅Incidence 1/40,000-1/117,000
✅Newborn Screening 🇮🇹🇹🇼 1/8,800
✅FD storage GB3

🗓️February, Amyloidosis month.
🏅5 Best Papers
💖Tips, Tricks & Thread/links 🧵(1/15)👇
#CardioEd #cardiotwitter #Cardiology #ENARM 🔴Diagnostic delays➡️3 years from symptom onset
👫 may be evaluated > 5 specialists prior to receiving the correct diagnosis
✅vast majority of cardiac amyloidosis➡️transthyretin amyloidosis or light chain amyloidosis
✅“red flag”🚩suspicion for this diagnosis👇
(2/15)

🔵Right-Sided Infected Endocarditis 2020: Challenges & Updates in Diagnosis and Treatment #CardioEd via @JAHA_AHA
✅Compared w/Left-Sided ⬇️information📚features & management
✅Right-Sided 5-10% of all IE cases
✅Link ⬆️ IV drugs use, intracardiac devices, CVC
Thread🧵(1/7) (2/7) The modified 2015 duke criteria by @ESC_Journals difficult to apply in these 👥 because of lower sensitivity. Modifications proposed
✅local signs of infection
✅pulmonary embolism
@MediCasos @Drainternista @MrDoctorOficial @ZavalaGerard @AmbrizMau @IsaMathiasMD @cpgale3