Hello Friends,
Last Thursday my daughter took her youngest son (just turned 17) to the Cardiologist. A couple of weeks before she had taken him to family doctor as he was experiencing shortness of breath with normal daily activities and had had some chest pressure. The EKG showed some definite abnormalities so she had set up the specialist appt.
The Cardiologist did an Echocardiagram and took a history. She believes that both he and his brother (age 20) may have Marfan's Syndrome and one of the Ehler's Danlos Syndromes. Anyway, both have to do with your connective tissue. If you have Marfan's your connective tissue doesn't have enough fibrin. If you have the Ehler's your connective tissue doesn't have enough collagen. Either one could be dangerous and life threatening, but to have the two together would be catastrophic!
The youngest one also has something called pectis excavatum--where his chest wall sort of dips in and doesn't give his heart and lungs adequate room for their growth and functions. His aorta already shows a marked widening at the arch, as though he is developing an aneurysm there. She said she had never know of a case where one person had all three problems.