Conundrum of implantable electric devices in Anderson-Fabry cardiomyopathy

Clinical management of arrhythmias is often guided by recommendations relating to the specific type of rhythm disturbance and/or underlying diagnosis. In their Heart publication, Vijapurapu and colleagues are analysing the use of cardiac implantable electric devices (CIEDs) in patients with Anderson-Fabry disease (AFD). This multicentre UK study analyses data from a large cohort of patients with AFD and compares individuals with CIEDs to those without devices. The paper brings new insights to the complex issue of arrhythmias related to AFD cardiomyopathy.1 To appreciate the relevance of presented data, we should understand the pathophysiology of this type of cardiomyopathy which differs from sarcomeric hypertrophic cardiomyopathy (HCM). Fabry cardiomyopathy is usually characterised by progressive diffuse left ventricular hypertrophy (LVH) with low frequency of LV outflow tract obstruction (LVOTO). Later stages are associated with inflammation, accelerated apoptosis and development of progressive myocardial replacement fibrosis affecting typically mid-wall layer of posterolateral basal LV segments (figure 1) and interstitial fibrosis, potentially also within the conduction system.2 The cardiomyopathy develops in adult patients usually from third or fourth decade of life regardless whether they suffer from the multisystemic ‘classical’ AFD or ‘later onset’ variants (usually characterised by cardiomyopathy and absent or minimal renal and neurological manifestations). The disease severity in female patients depends on the genetic variant and X-chromosome inactivation. In average, manifestations in women are milder and onset of signs and symptoms delayed. The study by Vijapurapu et al confirms that arrhythmias represent a frequent cause of morbidity and mortality in AFD, particularly in males in their fifth decade of life.1 Figure 1 Cardiac MRI showing scars (green arrows) by late gadolinium enhancement in patients with Anderson-Fabry disease (AFD). Patient A is a 54-year-old man classically affected with no history of palpitations or syncope. Patient B is a 52-year-old man with later-onset variant scanned …