(P197) LEFT VENTRICULAR APICAL ANEURYSMS IN PATIENTS WITH FABRY DISEASE - A CASE STUDY

Background: Patient 1 was diagnosed with Fabry disease at age 46 through family screening. At baseline, his ECG showed prominent lateral T wave inversions and his echo showed left ventricular (LV) apical hypertrophy with a mid LV cavity gradient. At age 65, an LV apical aneurysm was incidentally discovered on computed tomography (CT) scan of the abdomen, which was confirmed on coronary CT angiogram and echo. Patient 2 was given a diagnosis of apical hypertrophic cardiomyopathy (HCM) at age 37 based on similar baseline ECG and echo findings. At age 74, a follow-up echo revealed an aneurysm at the LV apex. Genetic testing had not been available to him until age 76, which revealed Fabry disease. Patient 3 was diagnosed with Fabry disease at age 59 after presenting with rapid atrial fibrillation and an elevated troponin. There was no coronary artery disease on angiography but diffuse LV hypertrophy with a lack of tapering at the LV apex on echo. Genetic testing revealed Fabry disease and an echo with ultrasound-enhancing agent 2 years later showed an LV apical aneurysm. Patient 4 was diagnosed at age 34 during work-up for proteinuria. Unlike the other 3 patients, he did not have an apical HCM phenotype on baseline ECG and echo. However, by age 52, echo and cardiac magnetic resonance imaging (MRI) showed aneurysmal formation of the LV apex with an associated thrombus.

METHODS AND RESULTS: In these 4 patients, LV apical aneurysms were detected by various imaging modalities including transthoracic echo, echo with ultrasound-enhancing agent, CT, and cardiac MRI.

Conclusion: LV apical aneurysms have not been traditionally associated with Fabry cardiomyopathy but have been identified in 4 of our 89 patients with Fabry disease. A classic apical HCM phenotype based on ECG and echo findings preceded the development of LV apical aneurysms in 3 of the 4 patients. While the basal inferolateral LV wall segment has often been described as a common site of fibrosis in Fabry cardiomyopathy, preferential hypertrophy and eventual aneurysm formation at the LV apex may be an additional under-recognized characteristic in the natural history of the condition. Identification of an LV apical aneurysm is important since it may indicate an increased risk of thromboembolism and sudden cardiac death. Serial imaging using multimodality techniques with sufficient visualization of the LV apex is recommended.