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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...

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Autores principales: Pongbangli, Natnicha, Pitipakorn, Kannika, Jai-aue, Sasivimon, Sirijanchune, Piyaporn, Pongpittayut, Sorawit, Wongcharoen, Wanwarang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2021
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.
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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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