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Marfan syndrome 🧬
For education and revision only. Check current NICE/BNF, specialist guidance and local NHS policy before clinical use. Newly added V19 material has not received independent clinical sign-off.
Marfan syndrome is an autosomal-dominant connective tissue disorder, often involving FBN1, with potentially life-threatening aortic disease.
Recognise
- Aortic-root enlargement or dissection, ectopia lentis, long limbs/arachnodactyly, pectus deformity and scoliosis.
- Tall stature alone is not diagnostic; assess using clinical features, family history and specialist criteria.
Safety and follow-up
- Urgent emergency assessment for sudden tearing chest/back pain or collapse: consider aortic dissection.
- Refer to inherited cardiac conditions/genetics and ophthalmology; aortic imaging surveillance and individualised activity advice are essential.
- Pregnancy and elective surgery need specialist planning.
Clinical reasoning: The key distinction from an isolated marfanoid body habitus is progressive aortopathy, not height.
UK sources / further reading: NHS Genomic Test Directory
| The content on this website is provided for educational and informational purposes only to support exam preparation (e.g., MLA, MRCP, USMLE) and learning. This is NOT medical advice, diagnosis, treatment, or professional guidance. It does not replace consultation with a qualified healthcare professional, official guidelines (e.g., NICE, GMC, BNF), or supervised clinical practice. Always verify information with current, authoritative sources. Makindo and its contributors accept no liability for any reliance on this content, including errors, omissions, or any resulting harm, loss, or consequences. By using this site, you agree to these terms. |
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