A 13-Year-Old Boy from Thailand with Hutchinson-Gilford Progeria Syndrome with Coronary Artery and Aortic Calcification and Non-ST-Segment Elevation Myocardial Infarction
January 2021
in “
American Journal of Case Reports
”
TLDR A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
This case report described a 13-year-old boy from Thailand with Hutchinson-Gilford progeria syndrome, a rare genetic condition caused by a mutation in the LMNA gene, which typically results in a life expectancy of no more than 13 years due to cardiovascular complications. The boy exhibited physical characteristics such as short stature, thin limbs, joint stiffness, craniofacial disproportion, and hair loss. He was diagnosed with non-ST-segment elevation myocardial infarction (NSTEMI) due to severe calcification of the aortic valve and coronary artery disease. Despite the absence of genetic testing for the LMNA mutation in Thailand, the diagnosis was based on clinical symptoms and diagnostic tests. The patient was treated with medication and aggressive risk factor control, and after 3 months, he reported no recurrence of symptoms. This case was notable as most individuals with this syndrome do not survive beyond 13 years.