-
Views
-
Cite
Cite
Jin-Lei Yin, Shao-Hua Yang, Fan Yang, Jing Li, Yu-Jie Zhao, Percutaneous intramyocardial septal radiofrequency ablation for a Fabry disease patient, European Heart Journal - Cardiovascular Imaging, 2025;, jeaf060, https://doi.org/10.1093/ehjci/jeaf060
- Share Icon Share
Extract
A 45-year-old man presented with persistent chest pain on exertion for more than 10 years accompanied by fatigue. Genetic testing revealed a pathogenic mutation in the GLA gene, c.902G>A (p.Arg301Gln), confirming the diagnosis of Fabry disease (FD). Echocardiogram demonstrated that the left ventricular outflow tract gradient (LVOTG) was 18 mmHg at rest, and LV cavity resting and provocation gradients were 39 and 58 mmHg, respectively (Panel D), while stress echocardiography revealed that the post-exercise LVOT gradient was 119 mmHg. The late gadolinium enhancement in cardiac magnetic resonance (CMR) indicated with diffuse fibrosis of ventricular, delayed enhancement was 7.68% (Panel F), with ventricular septal thickness of 25.0 mm. Histopathological examination revealed myocardial cell hypertrophy, vacuolar changes, intracytoplasmic deposition of lipofuscin, and mild fibrous tissue hyperplasia between myocardial fibres (Panels A–C). We applied percutaneous intramyocardial septal radiofrequency ablation (PIMSRA). During the procedure, ablation process of segments III through I was performed (Panels G and H). No complications were observed. At 3-month follow-up, contrast enhancement ultrasonography showed a ‘black hole effect’, indicating contrast agent filling defect in the ablation region (Panel E). Echocardiogram revealed that the LVOTG decreased to 14 mmHg at rest, and LV cavity resting and provocation gradients decreased to 5 and 8 mmHg, respectively. CMR revealed that the ventricular septal thickness decreased to 14.2 mm. T1 mapping using the look-locker inversion recovery sequence was analysed. The extracellular volume was 31% (Panel I), which is higher than the normal range of 25.3 ± 3.5%. PIMSRA may provide another effective approach to relieve symptoms in FD patients with obstructed LVOT.