BACKGROUND Anderson-Fabry disease(AFD)is an X-linked lysosomal storage disorder that results from a deficiency ofα-galactosidase A enzyme activity in which glycosphingolipids gradually accumulate in multi-organ syste...BACKGROUND Anderson-Fabry disease(AFD)is an X-linked lysosomal storage disorder that results from a deficiency ofα-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.CASE SUMMARY 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 ofα-galactosidase A.CONCLUSION 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.展开更多
文摘BACKGROUND Anderson-Fabry disease(AFD)is an X-linked lysosomal storage disorder that results from a deficiency ofα-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.CASE SUMMARY 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 ofα-galactosidase A.CONCLUSION 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.
