Role of Trans Thoracal Echocardiography (TTE) in Assessing Aortic Abnormalities in Patient with suspected Marfan Syndrome: A Case Report
Author : A.W. Sari, B. Nadha, R. Wibhuti
Upload Date : 19-04-2018
Background : Marfan syndrome (MFS) is a disorder of the connective tissue that is inherited in an autosomal dominant and mutations in the gene coding for
fibrillin-1 (FBN1). Transthoracic echocardiography (TTE) used to diagnose cardiovascular involvement, particularly aortic dilatation.
Case illustration : Female, 44 year old, complained DOE. Her height 1.75m, weight 45kg and BSA 1.5m2, araknodaktili, Steinberg sign, Walker sign and high-arched palate with crowding of teeth. Pectus carinatum, diastolic blowing murmur at ICS 2 right PSL. TTE demonstrated severe AR, dilatation of valsava sinus, ST junction and suspected with dissection of aortic ascenden and descenden. CT angiography aorta and MSCT abdominal showed aneurysm of aortic ascenden with dissection and aortosclerosis of abdominal aorta until right and left iliac artery. Her diagnosis was Chronic Heart Failure Functional Class II caused by Severe AR, suspected Marfan Syndrome.
Discussion : Based on Revised Ghent Nosology, one of clinical manifestation is cardiovascular, aneurysm of aortic root, which is can be measurement with TTE. According to American Society of Echocardiography, measurements must be made at the aortic valve annulus, sinus Valsalva, sinotubular junction, and the tubular portion of the ascending aorta. A definitive diagnosis of aortic dissection is the presence of the mobile flap dissection, separating the true and false lumen. Although there is debate about aortic measurement methods, echocardiography is the best technique, for serial measurements for each patient is done by using the same method to determine the dimensional changes of the aorta over time.
Conclusion : We had reported a female patient with Chronic Heart Failure Functional Class II caused by Severe AR suspected Marfan Syndrome. In addition to clinical judgment, echocardiography has a very important role in diagnosis of aortic dilatation as a one of cardinal sign of Marfan Syndrome.
KEYWORDS : Marfan syndrome, Transthoracal echocardiography, aortic dilatation