School of Medicine and Health Sciences Poster Presentations

Title

A Curious Case of Aortopathy

Poster Number

172

Document Type

Poster

Status

Medical Student

Abstract Category

Clinical Specialties

Keywords

ACTA2, Vasculitis, Aortopathy, Aortic Aneurysms

Publication Date

Spring 2018

Abstract

Cystic Medial Degeneration (CMD) is a disorder of typically large arteries, particularly of the aorta, and can be associated with congenital vascular diseases such as Ehlers Danlos or Marfan syndrome. CMD can be a diagnostic challenge for rheumatologists as it is a known vasculitis mimicker, thus PET scan is a vital diagnostic tool in differentiating between vasculitic and non vasculitic etiologies when evaluating large vessel aneurysms. Here we present a case of a dilated aortic aneurysm and new onset Deep Venous Thrombosis (DVT) in a young patient where radiotracer uptake was noted on PET with initial concern for vasculitis, however histopathology revealed cystic medial degeneration. A 28-year-old African American male with past medical history significant for surgically-managed congenital patent ductus arteriosus presented to an outside hospital with right lower extremity pain and swelling with Venous Dopplers revealing a large occlusive distal DVT extending from the common femoral and popliteal veins. CT angiography revealed a 5.9 cm mid ascending thoracic aneurysm, and a 3.2 cm pulmonary artery dilatation. The patient was transferred to our institution for further surgical management of his aortic aneurysm. Laboratory Evaluation revealed an ESR of 0, and CRP 37.1. HIV, RPR, Hepatitis B surface antigen, Hepatitis b Core antibody, Quantiferon Gold, ANA-IFA, Anti-dsDNA, Rheumatoid Factor, antiCCP, ACE, C3, C4, HLA-B27, HLA-B51, and ANCA panel were all within normal limits. PET/CT revealed increased radiotracer uptake throughout the right lower extremity vasculature and a small focus in the ascending aorta. MRI/MRA of the brain revealed enlarged bilateral internal carotid artery aneurysms. Pulse dose methylprednisolone therapy was initiated following results of PET and patient underwent successful surgical aortic root aneurysmal repair. Surgical Pathology of aortic tissue revealed cystic medial degeneration without evidence of prominent lymphocytic infiltrate in the intima and tunica media; though a small focal lymphoplasmacytic infiltrate was identified in the aortic adventitia “without strong morphologic evidence of vasculitis.” Familial genetic aortopathy panel returned positive for a heterozygous missense mutation in the Smooth Muscle Alpha Actin Protein(ACTA2). This case illustrates the necessity of maintaining a broad differential when considering the etiology of arterial aneurysms in varying size vessels in a young patient. In our patient, radiotracer uptake was noted in the aorta and lower extremity vessels, but histopathology of aortic tissue was consistent with cystic medial degeneration. Mutations in the ACTA2 protein are associated with familial syndromes of Thoracic Aorta Aneurysms, premature Coronary Artery Disease and Moya Moya Disease.

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A Curious Case of Aortopathy

Cystic Medial Degeneration (CMD) is a disorder of typically large arteries, particularly of the aorta, and can be associated with congenital vascular diseases such as Ehlers Danlos or Marfan syndrome. CMD can be a diagnostic challenge for rheumatologists as it is a known vasculitis mimicker, thus PET scan is a vital diagnostic tool in differentiating between vasculitic and non vasculitic etiologies when evaluating large vessel aneurysms. Here we present a case of a dilated aortic aneurysm and new onset Deep Venous Thrombosis (DVT) in a young patient where radiotracer uptake was noted on PET with initial concern for vasculitis, however histopathology revealed cystic medial degeneration. A 28-year-old African American male with past medical history significant for surgically-managed congenital patent ductus arteriosus presented to an outside hospital with right lower extremity pain and swelling with Venous Dopplers revealing a large occlusive distal DVT extending from the common femoral and popliteal veins. CT angiography revealed a 5.9 cm mid ascending thoracic aneurysm, and a 3.2 cm pulmonary artery dilatation. The patient was transferred to our institution for further surgical management of his aortic aneurysm. Laboratory Evaluation revealed an ESR of 0, and CRP 37.1. HIV, RPR, Hepatitis B surface antigen, Hepatitis b Core antibody, Quantiferon Gold, ANA-IFA, Anti-dsDNA, Rheumatoid Factor, antiCCP, ACE, C3, C4, HLA-B27, HLA-B51, and ANCA panel were all within normal limits. PET/CT revealed increased radiotracer uptake throughout the right lower extremity vasculature and a small focus in the ascending aorta. MRI/MRA of the brain revealed enlarged bilateral internal carotid artery aneurysms. Pulse dose methylprednisolone therapy was initiated following results of PET and patient underwent successful surgical aortic root aneurysmal repair. Surgical Pathology of aortic tissue revealed cystic medial degeneration without evidence of prominent lymphocytic infiltrate in the intima and tunica media; though a small focal lymphoplasmacytic infiltrate was identified in the aortic adventitia “without strong morphologic evidence of vasculitis.” Familial genetic aortopathy panel returned positive for a heterozygous missense mutation in the Smooth Muscle Alpha Actin Protein(ACTA2). This case illustrates the necessity of maintaining a broad differential when considering the etiology of arterial aneurysms in varying size vessels in a young patient. In our patient, radiotracer uptake was noted in the aorta and lower extremity vessels, but histopathology of aortic tissue was consistent with cystic medial degeneration. Mutations in the ACTA2 protein are associated with familial syndromes of Thoracic Aorta Aneurysms, premature Coronary Artery Disease and Moya Moya Disease.