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A3507 - Loey Dietz Syndrome: A Rare Cause of Coronary Anuerysms
Author Block: Y. Jawaid, O. Aqtash, M. Kannan, L. Dial; Internal Medicine, Marshall University School of Medicine, Huntington, WV, United States.
Introduction:Loeys Dietz Syndrome in particular is an aggressive vascular aneurysmal disease. We present a case of Loeys Dietz syndrome with extensive vascular disease with coronary aneurysm.
Case Presentation:66 year male with Loeys Dietz Syndrome Type 2 (LDS2) presented to our practice with a history of multiple aneurysms of the extremities, cerebral, thoracic, abdominal aorta, carotid and coronary arteries. He was positive for Transforming Growth Factor-Beta Receptor, Type 2 (TGFBR2), which in the presence of the aneurysmal dilation is diagnostic of LDS2. Complicated by coexistence of two clotting disorder including factor V leiden and Methylenetetrahydrofolate reductase (MTHFR) gene mutation. Of importance is the presence of coronary anuerysm which as mentioned below is not a common feature of LDS.
Discussion:
Loeys Dietz syndrome is an autosomal dominant connective tissue disorder characterized by aortic aneurysm, generalized tortuosity, hypertelorism, bifid uvula and cleft palate . Initial case reports of LDs described it as aggressive vascular disease with mutations in Transforming growth factor receptor gene, namely TGFBR1 and TGFBR2. Two types, type 1 with craniofacial features and type 2 having cutaneous features. Due to the aggressiveness of vascular diseases when compared with other connective tissue disorder such as Marfans and EDS, it has been proposed that mutation in any one of the genes (TGFBR1,2 and SMAD 3) with aneurysm and dissections should be sufficient to establish a diagnosis .
Rapidly progressive aortic aneurysmal disease is a hallmark of LDs. These vascular malformations are prone to dissection.Coronary aneurysm are not common. Coronary button aneurysms have been reported after valve-sparing aortic root replacement and were proposed to be surgery related and not a LDs specific complication. Non dilated coronary dissections have been reported in 2 case reports. The presence of coronary artery involvement is not commonly reported in Loeys Dietz syndrome which has led the authors to suggest use of CT angiogram in patients with chest pains and pre-existing LDS.
Presence of factor V Leiden mutation with thromboembolic disease in LDS is not reported. MTHFR gene mutation increases risk of developing venous thromboembolisms with no reportable association to LDs.
Conclusion:Loeys Dietzs syndrome is a TGF B receptor mutation with aggressive aneurysmal disease . It involves the arterial tree extensively however the involvement of the coronary arteries is a rare occurrence. In addition the association of thromboembolic disease secondary to factor V Leiden mutation and MTHFR gene mutation has not previously been reported.