02/18/2026
Marfan syndrome is a genetic connective tissue condition that affects the heart, eyes, bones, and joints. It occurs in about 1 in 5,000 people and is present from birth. About 50% of cases are inherited, while the rest happen due to a new gene change.
It is often first suspected in childhood during routine well visits, when growth patterns and physical features are followed over time. Pediatricians play a key role in recognizing early signs and coordinating the right referrals for testing and imaging. 🩺
Findings that may prompt further evaluation include:
• Very tall, slender build for age
• Long arms, legs, fingers, or toes
• Chest wall differences
• Scoliosis
• Joint flexibility
• Severe nearsightedness
• Family history of Marfan syndrome or early aortic disease
Diagnosis typically involves a physical exam, detailed family history, echocardiogram to evaluate the aorta and heart valves, and an eye exam. Genetic testing may also be recommended.
After diagnosis, children are followed regularly by cardiology to monitor the aorta, started on medications when indicated to reduce stress on the heart, and guided on safe physical activity. With early detection and proper monitoring, life expectancy has improved significantly. ❤️
This is one of the many reasons routine checkups matter — they allow us to identify patterns early and connect families with the care their child needs. 👨⚕️👩⚕️
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