Diagnostic Usefulness of Cardiac MRI T 1 Mapping in Ventricular Hypertrophy
a Unidad de Imagen Cardiaca, Servicio de Cardiología, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain
b Servicio de Cardiología, Hospital Universitari Sagrat Cor, Barcelona, Spain
We report the case of a 35-year-old man without systemic hypertension but with a family history of hypertrophic cardiomyopathy who sought medical attention due to malleolar edema. Electrocardiography showed negative T waves in V4-V6 (Figure 1) and echocardiography showed left ventricular hypertrophy (LVH) but normal diastolic function and Doppler tissue velocity (Figure 1 and Figure 1). Cardiac magnetic resonance imaging (MRI; Figure 2 and Figure 2) also showed LVH with preserved left ventricular ejection fraction and without gadolinium retention on late enhancement (Figure 2). The native T1 relaxation time (Figure 2) was 872 ms, less than normal, with normal extracellular volume. Even in patients with hypertrophy, focal gadolinium retention, or decreased S’ velocity by Doppler tissue imaging, a reduced native T1 can indicate early myocardial involvement in Anderson-Fabry disease (AFD). Given a finding of proteinuria in the nephrotic range and undetectable levels of alpha-galactosidase, renal biopsy was performed, which confirmed AFD by revealing glomeruli with vacuolated hypertrophic podocytes in hematoxylin-eosin staining (Figure 3) and birefringent particles in the podocytes (arrow with polarized light) (Figure 3).
In AFD, the alpha-galactosidase deficiency causes multiorgan accumulation of sphingolipids, with cardiac involvement in 90% of patients. Less than 60% of AFD patients have LVH and not all patients show the characteristic gadolinium retention in the lateral basal segment of the left ventricle, as in our patient (Figure 2, circle). In contrast to amyloidosis and hypertrophic cardiomyopathy, there is a significant reduction in the native T1, with values < 940 ms effectively identifying 90% of patients; the lower the value, the greater the hypertrophy. Given these findings, the patient's mother was reevaluated and subsequently diagnosed with AFD.
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