Published online Jun 26, 2021. doi: 10.12998/wjcc.v9.i18.4823
Peer-review started: January 28, 2021
First decision: February 25, 2021
Revised: March 3, 2021
Accepted: May 15, 2021
Article in press: May 15, 2021
Published online: June 26, 2021
Processing time: 134 Days and 6.8 Hours
Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A enzyme activity in which glycosphingolipids gradually accumulate in multi-organ systems. Cardiac manifestations are the leading cause of mortality in patients with AFD. Among them, arrhythmias comprise a large portion of the heart disease cases in AFD, most of which are characterized by conduction disorders. However, atrial fibrillation as a presenting sign at the young age group diagnosed with AFD is uncommon.
We report a case of a 26-year-old man who was admitted with chest discomfort. Left ventricular hypertrophy was fulfilled in the criteria by the Sokolow-Lyon index and atrial fibrillation on the 12 Leads-electrocardiography (ECG) that was documented in the emergency room. After spontaneously restored to normal sinus rhythm, relationships between P and R waves, including a shorter PR interval on the ECG, were revealed. The echocardiographic findings showed thickened interventricular septal and left posterior ventricular walls. Based on the clues mentioned earlier, we realized the possibility of AFD. Additionally, we noticed the associated symptoms and signs, including bilateral mild hearing loss, neuropathic pain, anhidrosis, and angiokeratoma on the trunk and hands. He was finally diagnosed with classical AFD, which was confirmed by the gene mutation and abnormal enzyme activity of α-galactosidase A.
This case is a rare case of AFD as a presentation with atrial fibrillation at a young age. Confirming the relationship between P and Q waves on the ECG through sinus rhythm conversion may help in differential diagnosis of the cause of atrial fibrillation and hypertrophic myocardium.
Core Tip: Atrial fibrillation as the initial presenting sign at a young age is rare. It was essential to identify the cause of the atrial fibrillation and hypertrophic myocardium with no history of hypertension in the young patient. Even though atrial fibrillation was incidentally converted into sinus rhythm, the restored rhythm clarified the shortened PR interval and segment without delta wave, which became a crucial clue for Anderson-Fabry disease (AFD) diagnosis. Therefore, sinus conversion to detect the relationship between P and QRS may be needed and helpful in differential diagnoses such as AFD and other heart diseases.