Marfan Syndrome - Causes, Symptoms, Diagnosis, and Treatment - Genetics

Marfan Syndrome is an autosomal dominant genetic disease (with variable expressivity) caused by a mutation of fBN1 gene on chromosome 15 leading to a defect in Fibrillin-1 protein which causes increased TGF-ß, and eleastin defect. Symptoms of Marfan syndrome include pectus excavatum or pectus carinatum, tall stature, tall limbs, marfanoid body habitus, scoliosis, hernia, arachnodactyly, dural ectasia, skin hyperelasticity, joint deformity, lens dislocation (ectopia lentis), vision loss, aortic dilation, aortic regurgitation, heart murmurs, dissection, aneurysm, cystic medial degeneration, mitral valve prolapse, pneumothorax, connective tissue disease, problem in elastic connective tissue (elastin protein of the extracellular matrix or ECM). Biochemistry and Genetics. 💊🦠 Antibiotics Course: www.medicosisperfectionalis.com/products/courses/a… 💦 🐳 Kidney Physiology Course: www.medicosisperfectionalis.com/products/ 🤰 ObGyn Highyields Course: www.medicosisperfectionalis.com/ 🚨 Emergency Medicine HighYields Course: www.medicosisperfectionalis.com/ 😷 Surgery HighYields Course: www.medicosisperfectionalis.com/ 💊 📛 Toxicology Course: www.medicosisperfectionalis.com/ ❤️ Cardiac Pharmacology Course: www.medicosisperfectionalis.com/ 🧪Acid-Base Course: www.medicosisperfectionalis.com/products/ 🧠 Autonomic Pharmacology Course: www.medicosisperfectionalis.com/ 🧪 Electrolytes Course: www.medicosisperfectionalis.com/ 🍱 Endocrine Pharmacology Course: www.medicosisperfectionalis.com/products/ 🧠 CNS Pharmacology Course: www.medicosisperfectionalis.com/ 💊 General Pharmacology (Pharmacokinetics & Pharmacodynamics): www.medicosisperfectionalis.com/ 📝 Download my handwritten notes: www.medicosisperfectionalis.com/ ⁉️ Questions and Answers: www.medicosisperfectionalis.com/ 🗳 Complete the Survey: airtable.com/shrYWjvabooT7DrcG 🎁Free Stuff: www.medicosisperfectionalis.com/ 💊 Pharmacology Lectures: www.medicosisperfectionalis.com/ YouTube PLAYLISTS: ► 🧠 Physiology Playlist:    • Physiology Introduction - What is Phy...   🧫 🦠 Microbiology and Infectious Diseases Playlist:    • Microbiology & Infectious Diseases   ► 🩸 Hematology videos:    • Hematology/ Oncology   ► 💪 Rheumatology:    • Rheumatology   ► ❤️ Cardiac Pharmacology:    • Cardiac Pharmacology   ► Biochemistry 🧪 :    • Biochemistry -  MCAT, DAT, PCAT, NEET...   ► 🙌 Support me on cash app: cash.app/$medicosis/ ► Support me on Stripe: donate.stripe.com/3cs02Hb9ca2k4c8fYZ ► 😍 Support me on Patreon: www.patreon.com/medicosis/ ► Support me on Venmo: Venmo: venmo.com/medicosis ► 🥰 Support me on PayPal: www.paypal.me/perfectionalis/ ► ☕️ Buy me a Coffee: www.buymeacoffee.com/medicosis/ ► 😚 Join my Channel on YouTube: youtube.comhttps://www.seevid.ir/fa/result?ytch=UCl-J-ovSJhA3or73Q2uVpow/join --If you’ve joined my channel on youtube (the join button that's next to the subscribe button), go to the "membership tab" and you will find some member-only posts/videos. ► 👨‍🏫 All of my premium courses are ON SALE: www.medicosisperfectionalis.com/ 📚 Recommended Books: www.amazon.com/shop/medicosisperfectionalis/ ► ❓If you have any questions, please email me at: [email protected] 🗳 Complete the Survey: airtable.com/shrYWjvabooT7DrcG/ ►Website: www.medicosisperfectionalis.com/ ►Patreon: www.patreon.com/medicosis/ ►YouTube: youtube.com/c/MedicosisPerfectionalis or: ► Like my page on Facebook www.facebook.com/medicosis/ ►Follow us on Instagram here: www.instagram.com/medicosisperfectionalis/ ►PayPal: www.paypal.me/perfectionalis/ ►Venmo: @medicosis ►Facebook: www.facebook.com/medicosis/ ►Twitter: www.twitter.com/medicosis/ ►SoundCloud: soundcloud.com/medicosis/ ►TikTok: www.tiktok.com/@medicosisp/ ►LinkedIn: linkedin.com/in/medicosis-perfectionalis-873886197/ ►Snapchat: www.snapchat.com/add/medicosis/ ►Pinterest: www.pinterest.com/medicosisperfectionalis/ ►Rumble: rumble.com/user/MedicosisPerfectionalis/ ► Tumblr: medicosis.tumblr.com/ Thank you for supporting my channel! Love ❤️& Happy studying!! 😍🖼Animated Mnemonics (Picmonic): www.picmonic.com/viphookup/medicosis/ 📱Save on your phone bill: fbuy.me/q6bMj 📊 My favorite Productivity App: airtable.com/invite/r/2zH40fus/ ☁️ Get 20 GB of online storage for FREE: mega.io/?aff=ZSJvkba-Ov0 🙋‍♀️ Qbank (TrueLearn): truelearn.referralrock.com/l/MEDICOSIS/ 🙌 Support the channel: donate.stripe.com/3cs02Hb9ca2k4c8fYZ

• #education
• #marfan
• #genetics
• #autosomal_dominant
• #variable_expressivity
• #fibrillin_defect
• #fbn1_gene
• #chromosomes
• #tgf_beta
• #elastin_defect
• #tall_limbs
• #marfanoid_body_habitus
• #scoliosis
• #hernia
• #arachnodactyly
• #dural_ectasia
• #skin_hyperelasticity
• #joint_deformity
• #lens_dislocation_ectopia_lentis
• #vision_loss
• #aortic_dilation
• #aortic_regurgitation
• #heart_murmurs
• #dissection
• #aneurysm
• #cystic_medial_degeneration
• #mitral_valve_prolapse
• #pneumothorax
• #connective_tissue_disease
• #mbbs
• #nclex
• #usmle
• #mcat