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A Twin Case Series of Vascular Aortic Pathology
Amanda Rushing, Cassandra Soto, Daniel Han, Peter Faries, Michael Marin
Mount Sinai, New York, NY
A Twin Case Series of Vascular Pathology
Amanda Rushing, MD, MPH
1, Cassandra Soto, MD
1, Daniel Han
1, MD, Peter Faries
1, MD, Michael Marin, MD
11Division of Vascular Surgery, Department of Surgery, The Icahn School of Medicine at Mount Sinai, New York, NY
Introduction: It is well known that genetics as well as modifiable risk factors play a role in aortic pathology. It is currently unclear to what extent each contributes to development of aortic disease as well as disease progression. Twin studies provide a unique insight into disease patterns as potential cofounding are removed.
Methods: Four sets of monozygotic twins with aortic pathology were identified within a single institution. In depth history, risk factors, and computed tomography angiography was obtained in each twin and their other non-twin siblings.
Results: Twin set one had similar aortic pathology of infrarenal aortic aneurysms, bilateral common iliac artery aneurysms, and left internal iliac artery aneurysms. Twin set two both had infrarenal aortic aneurysms with one MZ twin also having bilateral popliteal artery aneurysms. Twin set two’s non-twin brother had no vascular pathology despite a 20 year smoking history. Twin set three had one twin with an aberrant right subclavian artery with aneurysm of Kommerell at the origin and aortic arch penetrating aortic ulcer while her MZ twin had no vascular disease despite a 34 year smoking history. Twin set four had one twin with an infrarenal aortic aneurysm with his MZ twin brother and non-twin brother with no vascular pathology.
Conclusion: Our study is the only known large case series of vascular disease among monozygotic twins and their siblings. Our study offers insight into the role of genetics in patterns of vascular disease and adds to the literature regarding the need for screening among family members of patients with aortic pathology. Our study also adds to the literature showing that aortic aneurysmal disease and vascular anomalies result from multifactorial paths such as genetic predisposition, gender, race, and smoking history.
Table 1: Twin Sets with Known Vascular Disease and Risk FactorsTable 2: Twin Set 1 showing bilateral infrarenal aortic aneurysm and bilateral common iliac artery aneurysmsTable 2: Twin set 2 with non-twin sibling showing twins showing all siblings with infrarenal aortic and twin A with bilateral popliteal artery aneurysmsTable 4: Twin set 3 with twin A with aberrant right subclavian arteryTable 5: Twin set 4 with twin A with infrarenal aortic aneurysm and twin B with aortic root dilation
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