https://orcid.org/0000-0002-2678-2595
A 57-year-old man presented to our outpatient clinic with worsening angina pectoris and dyspnoea, which he reported to have had during the last 7 years. Transthoracic echocardiography revealed thickened left ventricular walls. Speckle tracking echocardiography was consistent with apical sparing and suggestive of cardiac amyloidosis (Panel A).
The patient underwent endomyocardial biopsy. Congo red staining of cardiac tissue was negative for amyloid deposits. However, histology revealed vacuolization of cardiomyocytes (Panels B and C: haematoxylin and eosin and desmin staining). Molecular analysis showed decreased activity of alpha-galactosidase as well as a hemizygous variant of the GLA-gene c.644A>G p.(Asn215Ser), which leads to an exchange of Asn to Ser at position 215.
On the basis of those results, the patient was diagnosed with Morbus Fabry and treatment with Migalastat was initiated with improvement of symptoms within 2 months. Family screening was initiated. Importantly, his 38-year-old nephew had been diagnosed with arrhythmias of unknown aetiology and as a result of the patient’s findings may benefit from diagnostic testing for Morbus Fabry.
While the time from symptom onset to diagnosis took 7 years in this patient, the average time in patients with Morbus Fabry based on registry data is 16 years. This case is an example of the importance of taking rare, treatable diseases such as Morbus Fabry into consideration when evaluating patients with thickened left ventricular walls. Specifically, our findings suggest considering Morbus Fabry as a differential diagnosis in the presence of apical sparing on echocardiography.
