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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 (NSTEMI)
Patient: Male, 13-year-old Final Diagnosis: Hutchinson-Gilford progeria syndrome with coronary artery and aortic calcification and non-ST-segment elevation myocardial infarction Symptoms: Chest discomfort Medication: — Clinical Procedure: — Specialty: Cardiology OBJECTIVE: Rare disease BACKGROUND: H...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
International Scientific Literature, Inc.
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7805248/ https://www.ncbi.nlm.nih.gov/pubmed/33414362 http://dx.doi.org/10.12659/AJCR.928969 |
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author | Pongbangli, Natnicha Pitipakorn, Kannika Jai-aue, Sasivimon Sirijanchune, Piyaporn Pongpittayut, Sorawit Wongcharoen, Wanwarang |
author_facet | Pongbangli, Natnicha Pitipakorn, Kannika Jai-aue, Sasivimon Sirijanchune, Piyaporn Pongpittayut, Sorawit Wongcharoen, Wanwarang |
author_sort | Pongbangli, Natnicha |
collection | PubMed |
description | Patient: Male, 13-year-old Final Diagnosis: Hutchinson-Gilford progeria syndrome with coronary artery and aortic calcification and non-ST-segment elevation myocardial infarction Symptoms: Chest discomfort Medication: — Clinical Procedure: — Specialty: Cardiology OBJECTIVE: Rare disease BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS), also known as progeria, is due to a mutation in the LMNA gene, resulting in a life expectancy of no more than 13 years, and a high mortality rate due to cardiovascular disease. We report the case of 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 (NSTEMI). CASE REPORT: A 13-year-old Thai boy was diagnosed with progeria. His physical appearance included short stature and thin limbs with prominent joint stiffness. He had craniofacial disproportion, with the absence of earlobes and with micrognathia. His skin had a generalized scleroderma-like lesion and hair loss with prominent scalp veins. His mental and cognitive functions were normal. Unfortunately, the mutation status in the LMNA gene was not available for testing in Thailand. He was diagnosed as having NSTEMI based on clinical chest pain, 12-lead ECG, and elevated cardiac troponin level. The coronary calcium score reflected severe calcification of the aortic valve and coronary artery disease along the left main and left anterior descending arteries. The patient received treatment with medication and aggressive risk factor control. After 3 months of follow-up, the patient reported no recurrence of symptoms. CONCLUSIONS: This case of Hutchinson-Gilford progeria syndrome is rare in that most patients do not live beyond 13 years of age. This patient presented with typical accelerated degenerative changes of the cardiovascular system, including NSTEMI. |
format | Online Article Text |
id | pubmed-7805248 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | International Scientific Literature, Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-78052482021-01-13 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 (NSTEMI) Pongbangli, Natnicha Pitipakorn, Kannika Jai-aue, Sasivimon Sirijanchune, Piyaporn Pongpittayut, Sorawit Wongcharoen, Wanwarang Am J Case Rep Articles Patient: Male, 13-year-old Final Diagnosis: Hutchinson-Gilford progeria syndrome with coronary artery and aortic calcification and non-ST-segment elevation myocardial infarction Symptoms: Chest discomfort Medication: — Clinical Procedure: — Specialty: Cardiology OBJECTIVE: Rare disease BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS), also known as progeria, is due to a mutation in the LMNA gene, resulting in a life expectancy of no more than 13 years, and a high mortality rate due to cardiovascular disease. We report the case of 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 (NSTEMI). CASE REPORT: A 13-year-old Thai boy was diagnosed with progeria. His physical appearance included short stature and thin limbs with prominent joint stiffness. He had craniofacial disproportion, with the absence of earlobes and with micrognathia. His skin had a generalized scleroderma-like lesion and hair loss with prominent scalp veins. His mental and cognitive functions were normal. Unfortunately, the mutation status in the LMNA gene was not available for testing in Thailand. He was diagnosed as having NSTEMI based on clinical chest pain, 12-lead ECG, and elevated cardiac troponin level. The coronary calcium score reflected severe calcification of the aortic valve and coronary artery disease along the left main and left anterior descending arteries. The patient received treatment with medication and aggressive risk factor control. After 3 months of follow-up, the patient reported no recurrence of symptoms. CONCLUSIONS: This case of Hutchinson-Gilford progeria syndrome is rare in that most patients do not live beyond 13 years of age. This patient presented with typical accelerated degenerative changes of the cardiovascular system, including NSTEMI. International Scientific Literature, Inc. 2021-01-08 /pmc/articles/PMC7805248/ /pubmed/33414362 http://dx.doi.org/10.12659/AJCR.928969 Text en © Am J Case Rep, 2021 This work is licensed under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0 (https://creativecommons.org/licenses/by-nc-nd/4.0/) ) |
spellingShingle | Articles Pongbangli, Natnicha Pitipakorn, Kannika Jai-aue, Sasivimon Sirijanchune, Piyaporn Pongpittayut, Sorawit Wongcharoen, Wanwarang 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 (NSTEMI) |
title | 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 (NSTEMI) |
title_full | 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 (NSTEMI) |
title_fullStr | 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 (NSTEMI) |
title_full_unstemmed | 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 (NSTEMI) |
title_short | 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 (NSTEMI) |
title_sort | 13-year-old boy from thailand with hutchinson-gilford progeria syndrome with coronary artery and aortic calcification and non-st-segment elevation myocardial infarction (nstemi) |
topic | Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7805248/ https://www.ncbi.nlm.nih.gov/pubmed/33414362 http://dx.doi.org/10.12659/AJCR.928969 |
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