A 25-year-old tall and slender man presents with sudden onset of severe chest pain radiating to the back. He has a family history of aortic dissections and has been told he has long fingers and toes. Physical examination reveals arachnodactyly, pectus excavatum, and a high-arched palate. Echocardiogram shows aortic root dilatation. What is the likely diagnosis, and what management strategies would you recommend?
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Probably it’s marfan syndrome (autosomal dominant connective tissue disorder)
MVP is also common in Marfan. Look for ejection click in auscultation.
Management of Marfan syndrome includes lifelong beta-blockers or ARBs to reduce aortic stress and regular echocardiographic monitoring. Acute aortic dissection requires urgent blood pressure control and possible surgery. Patients should avoid strenuous activities, and multidisciplinary care with genetic counseling is essential.
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This really points to Marfan syndrome, especially with the family history and physical features. Given the chest pain and aortic dilatation, an aortic dissection is a major concern. Immediate management involves stabilizing blood pressure and heart rate, usually with IV beta-blockers, and preparing for surgical repair of the aorta. Lifelong monitoring of the aorta is also key.
The most likely diagnosis is Marfan Syndrome with aortic root dilatation suggestive of risk for or ongoing aortic dissection.
Management:
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Acute setting: Immediate blood pressure control (IV beta-blockers like labetalol); urgent cardiothoracic surgery if dissection is confirmed
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Long-term: Regular echocardiographic monitoring, beta-blockers or ARBs (e.g., losartan), and elective aortic root replacement if diameter exceeds threshold
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Genetic counseling and lifestyle modifications (avoid strenuous activities)
Looks like, Marfan Syndrome to me.
Management: B blockers, ARBs and changes in lifestyle
could be Marfan Syndrome with complication of acute aortic dissection
Can be managed with beta blockers, ARBs and emergency surgery if required