Progression of electrocardiogram changes in an untreated fabry disease: a case report

Abstract

Background: Fabry disease (FD) is a rare lysosomal storage disorder with multiorgan manifestation and associated with an increased morbidity and mortality. Fabry cardiomyopathy includes left ventricular 'hypertrophy' (LVH), cardiac arrhythmias, and heart failure. We report a case of an untreated FD with characteristic findings in electrocardiogram (ECG) over a follow-up period of 10 years.

Case summary: A 53-year-old man with FD presented to our outpatient department. He suffered from symptomatic ventricular extrasystoles. Echocardiography detected LVH and reduced global longitudinal strain. Twelve years ago, first examination was conducted due to ventricular arrhythmias. Electrocardiogram showed a short PQ minus P-wave (P_endQ) interval and negative T-waves. Over time, the number of leads with negative T-waves increased. Moreover, the echocardiography revealed a thickened left ventricular wall. Without any further examinations at that time, the patient was treated for arterial hypertension with proteinuria. Ten years after first symptoms appeared, FD was diagnosed utilizing cardiac magnetic resonance imaging and genetic tests. Hence, enzyme replacement therapy was initiated.

Discussion: The ECG is a fast diagnostic method and it may - even without additional organ manifestations - provide preliminary suspicion of FD. In particular, as shown in our case, a short P_endQ and QT interval indicate FD. Over time, disease progression can be detected through ECG changes. T-waves correlate with an increasing LVH and a reduction in longitudinal function in echocardiographic examinations. Unexplained LVH must be followed by differential diagnosis. In case of confirmed FD, patients should be treated by multidisciplinary teams in experienced centres.

Keywords: Case report; Electrocardiogram; Enzyme replacement therapy; Fabry disease; Left ventricular hypertrophy.

Figure 1

Electrocardiogram (2020) presenting (A) a short P_endQ interval (red box), a normal PQ (blue line) and PR interval (purple line), (A, B) negative or flattened T waves (yellow box) as well as (B) ST elevations (light blue point). 50 mm/s, 10 mm/mV.

Figure 2

(A) Echocardiographic imaging of the left ventricle in parasternal long axis view showing thickened left ventricular wall. IVS, interventricular septum (15 mm); LVPW, left ventricular posterior wall (15 mm). (B) Left ventricular global longitudinal strain visualized with automated function imaging. Notice the reduced global longitudinal strain and the impaired contractility posterior and lateral.

Figure 3

Cardiovascular magnetic resonance T1 mapping (3 T MR) visualized short T1 time (1085 ms), indicative of sphingolipid storage (A). The same image displays areas of prolonged T1 time (1310 ms, A), which correlates with late gadolinium enhancement as a surrogate for fibrosis in Fabry disease (B).

Figure 4

Timeline with typical ECG findings for FD, especially the short P_endQ interval, i.e. PQ minus P-wave, and changes of the ST segments and T-waves (2008–2020). 50 mm/s, 10 mm/mV. ECG, electrocardiogram; FD, Fabry disease; CMR, cardiac magnetic resonance imaging; ERT, enzyme replacement therapy.