A 53 years old female with root aortic aneurysm, mitral and aortic valve regurgitation, and multiple bullae of lung. She had history of spontaneous pneumothorax 2 years ago. There was no history of smoking. ANA test and anti ds-dna test were negative. We haven't explore for skeletal and ophthalmic disorders yet, but the patient didn't have any complaint about these organs. What is the possible etiology of these disorders? Are they related to connective tissue disease?
DEAR GINA
ThIs Is a CASe OF MARFAN SYNDROME. look at the Attached artiCLe. It may help.
we had a Marfan case with a giant emphisematous bulla and ascending aortic aneurysm. we did a wedge resection and simultaneous aortic valve repair with excellent result
have read about Ghent II criteria for Marfan syndrome. Until now, we have found root aortic aneurysm, distal thoracal aortic dissection, pneumothorax, apical bleb, and high arch palate in this patient. All of these doesn't meet Ghent II criteria and we don't have facility to check genetic disorder.
I haven't check the uvula yet.
About Loey dietz syndrome, I didn,t find any skin abnormality in this patient
Is the diameter of the aortic root known? I would strongly recommend cardiological screening in her first degree relatives if DNA testing is not available. No history of lens luxation?
Did you find this website already; http://www.marfandx.org/dx/score
Thank you Dr. Arjan C Houweling
Yes, we have suggested cardiological screening to her first relatives.
There's no history of luxation of the lens
We could try to arrange DNA testing in our lab? We have been sequencing the FBN1 gene for several years now and this could potentially be performed without cost if your patient cannot afford this.
Let me know if this would be usefull.
What is kind of sample that you need for this test? Maybe we can inform to our patient.
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