Frans van Hoorn MD, Presenter: Nothing to Disclose

Bouwien Smid MD, Abstract Co-Author: Nothing to Disclose

Anje Spijkerboer MD, PhD, Abstract Co-Author: Nothing to Disclose

Jaap Stoker MD, PhD, Abstract Co-Author: Nothing to Disclose

Carla Hollak MD, PhD, Abstract Co-Author: Nothing to Disclose

Maarten Groenink MD, PhD, Abstract Co-Author: Nothing to Disclose

To investigate the yield of right ventricular mass (RVM) and aortic root diameter (ARD) assessment for identification of patients with Fabry disease (FD)

Magnetic resonance imaging was performed in 38 patients with a definite diagnosis of FD and 24 sex and age matched controls without cardiopulmonary diseases. RVM was derived from short axis cine images, ARD was measured at the level of the sinus on an oblique sagital cine image. Both were adjusted for body surface area. All data was compared between the 2 groups and cut-off points were chosen for optimal balance between sensitivity and specificity of RVM in combination with ARD for the diagnosis of FD.

Mean age of the Fabry patients was 27.5 ± 7.3 yr; 14 (37%) were males. With a cut-off point of 18.2 g/m2 in females the assessment of RVM yielded a sensitivity of 96% and a specificity of 91% for the diagnosis of FD. No significant enlargement of the ARD was seen in females and its assessment therefore did not alter sensitivity and specificity. In males combining cut-off points of 21 g/m2 and 16.25 mm/m2 for RVM and ARD respectively sensitivity of 93% and specificity of 92% were achieved with a positive and negative predictive value of 93% and 92% respectively for the diagnosis of FD.

Assessment of RVM in females and combined RVM and ARD assessment in males on cardiac MRI can be of great additive diagnostic value in identification of FD patients.

Diagnosis of Fabry disease is difficult. Delayed diagnosis may withhold affected patients from timely treatment with enzyme replacement therapy. Cardiac MRI can play a role in early patient detection

van Hoorn, F, Smid, B, Spijkerboer, A, Stoker, J, Hollak, C, Groenink, M, Importance of Right Ventricular Mass and Aortic Root Diameter Assessment by Magnetic Resonance Imaging in the Diagnosis of Fabry Disease.  Radiological Society of North America 2011 Scientific Assembly and Annual Meeting, November 26 - December 2, 2011 ,Chicago IL. http://archive.rsna.org/2011/11001622.html