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⚕️ FREE MSRA PODCAST – Noonan Syndrome
🎧 A clear, high-yield breakdown of this multisystem genetic paediatric condition – perfect for exam prep and real-life clinical scenarios.
🧠 Key Learning Points
📌 Definition
• Noonan syndrome is a genetic disorder affecting multiple systems, characterised by distinctive facial features, congenital heart defects, short stature, and variable developmental delay.
📌 Causes & Risk Factors
• Caused by mutations in genes in the RAS/MAPK pathway (most commonly PTPN11)
• Other genes: SOS1, RAF1, KRAS
• Inheritance is usually autosomal dominant
• Can be inherited or de novo
🧠 Mnemonic: "RAS like a RASH of features" – many features linked by RAS pathway error
📌 Pathophysiology
• Mutations in RAS-MAPK signalling genes disrupt cell growth and differentiation
• Leads to abnormalities in heart, facial structure, growth, and blood clotting
• Explains multisystem involvement (heart, face, height, bleeding)
📌 Symptoms
• Facial features: hypertelorism, down-slanting palpebral fissures, low-set ears
• Short stature
• Congenital heart disease: pulmonary stenosis, hypertrophic cardiomyopathy
• Developmental delay or learning difficulty
• Cryptorchidism (in boys)
• Chest deformities: pectus carinatum/excavatum
• Bleeding tendency
🧠 Mnemonic: "HEART FACE SHORT"
H – Heart defects
E – Eyes wide + low-set ears
A – ADHD or developmental delay
R – Recurrent bleeding
T – Testes undescended
F – Facial dysmorphism
A – Abnormal chest
C – Curly hair
E – Eyes drooping
📌 Differential Diagnosis
• Turner syndrome
• Neurofibromatosis type 1
• LEOPARD syndrome
• Cardiofaciocutaneous (CFC) syndrome
• Costello syndrome
• Fetal alcohol syndrome
• Jacobsen syndrome
📌 Diagnosis
• Clinical suspicion based on characteristic features
• Confirmed by genetic testing (next-gen sequencing for PTPN11, SOS1, RAF1, etc.)
• Echocardiogram to check for congenital heart disease
• Prenatal clues: cystic hygroma, polyhydramnios, increased nuchal translucency
📌 Management
• Multidisciplinary team approach: cardiology, endocrinology, genetics, ENT, ophthalmology, paediatrics
• Growth hormone for short stature
• Developmental support and educational interventions
• Regular cardiac follow-up (ECG, echo)
• Monitor for bleeding risk, cryptorchidism, scoliosis
• Surveillance for malignancies (e.g., leukaemia – small increased risk)
• Anaesthesia caution: risk of malignant hyperthermia
📌 Complications
• Congenital heart failure
• Developmental delay
• Growth hormone deficiency
• Bleeding disorders
• Orthopaedic abnormalities
• Slight increased cancer risk (esp. leukaemia)
📌 Prognosis
• Highly variable
• Most individuals live full lives with proper multidisciplinary management
• Cardiac involvement (especially hypertrophic cardiomyopathy) is a key determinant
📎 More MSRA Resources for Noonan Syndrome
📝 Revision Notes:
https://www.passthemsra.com/topic/noonan-s... (https://www.passthemsra.com/topic/noonan-s...)
🧠 Flashcards:
https://www.passthemsra.com/topic/noonan-s... (https://www.passthemsra.com/topic/noonan-s...)
💬 Accordion Q&A Notes:
https://www.passthemsra.com/topic/noonan-s... (https://www.passthemsra.com/topic/noonan-s...)
🚀 Rapid Quiz:
https://www.passthemsra.com/topic/noonan-s... (https://www.passthemsra.com/topic/noonan-s...)
🎓 Full Course:
https://www.passthemsra.com/courses/paedia... (https://www.passthemsra.com/courses/paedia...)
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Episode link: https://play.headliner.app/episode/2737318...