The Great Masquerader: Coronary Occlusion From Thrombus in Ascending Aortic Aneurysm Causing Anterior-Wall STEMI With Cardiogenic Shock.

A 55-year-old man with history of alcoholism presented to our hospital complaining of severe substernal chest pain. After a series of tests and procedures, a large mobile thrombus occupying the left coronary cusp with extension into the ascending aorta was discovered. The patient's hemodynamics remained unstable. After 6 hours of resuscitation, his hemodynamics could not be maintained and eventually, he expired. The autopsy result revealed an ascending aortic aneurysm with atheromatous plaques and focal ulceration without thrombus in the aneurysm. The pathological report showed evidence of acute anterior myocardial infarction, aneurysm with endarteritis and plasma cell infiltration, as well as atherosclerosis with ulcerative plaque. These findings were compatible with syphilitic aortitis. Tertiary syphilis is rarely encountered in current medical practice. Thrombus in the ascending aorta occluding the left coronary artery ostia and resulting in coronary embolus into the left anterior descending is a rare cause of acute anterior ST-segment-elevation myocardial infarction. The combination of these rare causes raises special attention to early recognition of thrombus forming from the syphilitic aortic aneurysm in the ascending aorta propagating to the coronary artery as a cause of myocardial infarction.

Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study.

We aimed to explore the prevalence of Fabry disease in Thai patients who were diagnosed with end-stage renal disease (ESRD) of an unknown origin. Venous blood samples were collected from ESRD patients for biochemical and molecular studies. Alpha-galactosidase A (α-GAL A) screening was performed from dried-blood spots using fluorometry. Molecular confirmation was performed using DNA sequencing of the GLA gene. A total of 142 male and female patients were included in this study. Ten patients (7.04%) exhibited a significant decrease in α-GAL A activity. There were no definitive pathogenic mutations observed in the molecular study. However, four patients revealed a novel nucleotide variant at c.1 -10 C>T, which was identified as a benign variant following screening in the normal population. In conclusion, the α-GAL A assay utilizing dried-blood spots revealed a significant false positive rate. There was no definitive Fabry disease confirmed in Thai patients diagnosed with ESRD of unknown etiology.