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Aortic Coarctation Associated With Hypertrophic Cardiomyopathy in a Woman With Hypertension and Syncope: A Case Report With 8-Year Follow-Up

BACKGROUND: Coarctation of the aorta (CoA) is a common congenital cardiovascular malformation with aortic narrowing in the region of the ligamentum arteriosum. Hypertrophic cardiomyopathy (HCM) is a primary cardiomyopathy that is characterized by left ventricular wall thickening and likely left vent...

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Autores principales: Yang, Hong, Wang, Hong, Li, Zongzhe, Yan, Jiangtao, Song, Yu-E, Zeng, Hesong, He, Xingwei, Li, Rui, Wang, Dao Wen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821647/
https://www.ncbi.nlm.nih.gov/pubmed/35146008
http://dx.doi.org/10.3389/fcvm.2021.818884
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author Yang, Hong
Wang, Hong
Li, Zongzhe
Yan, Jiangtao
Song, Yu-E
Zeng, Hesong
He, Xingwei
Li, Rui
Wang, Dao Wen
author_facet Yang, Hong
Wang, Hong
Li, Zongzhe
Yan, Jiangtao
Song, Yu-E
Zeng, Hesong
He, Xingwei
Li, Rui
Wang, Dao Wen
author_sort Yang, Hong
collection PubMed
description BACKGROUND: Coarctation of the aorta (CoA) is a common congenital cardiovascular malformation with aortic narrowing in the region of the ligamentum arteriosum. Hypertrophic cardiomyopathy (HCM) is a primary cardiomyopathy that is characterized by left ventricular wall thickening and likely left ventricular outflow tract (LVOT) obstruction. They are two irrelevant diseases, and their coexistence has not been reported before. Here, we described a young female patient who concurrently has CoA and HCM. CASE PRESENTATION: The patient has had hypertension since 18-years old and complained of chest discomfort on effort and fatigue thereafter. Initially, she was diagnosed as having hypertrophic cardiomyopathy and primary hypertension. The presence of CoA was not found until she was 35 years old when she had an onset of paroxysmal supraventricular tachycardia (PSVT) and presented with syncope. Failure of the ablation procedure via the femoral artery revealed the possibility of CoA and PDA that was confirmed by aortic CTA and angiography. CoA was then treated successfully with a covered stent, and the symptoms of the patient improved remarkably. Additionally, the patient had typical imaging features of HCM, and two novel HCM-causing heterozygous mutations were identified by genetic testing, DSP-encoding desmoplakin, and MYBPC3-encoding myosin-binding protein C. The HCM was suspected to be contributing to the clinical presentations of the patient and challenged the timely diagnosis of CoA. The 8-year follow-up on aortic CTA and angiography revealed no stent graft-related complications. Moreover, no changes in HCM-related imaging features were found in the follow-up echocardiography 8 years after the correction of aortic coarctation, which strengthened the diagnosis of HCM. CONCLUSION: Here, we reported the diagnostic challenges, management, and 8-yeasr follow-up findings in a rare case of CoA combined with HCM. The case highlighted the importance for physicians to exclude CoA in young hypertensive patients, and proved the efficacy of stent repair in treating CoA in older patients.
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spelling pubmed-88216472022-02-09 Aortic Coarctation Associated With Hypertrophic Cardiomyopathy in a Woman With Hypertension and Syncope: A Case Report With 8-Year Follow-Up Yang, Hong Wang, Hong Li, Zongzhe Yan, Jiangtao Song, Yu-E Zeng, Hesong He, Xingwei Li, Rui Wang, Dao Wen Front Cardiovasc Med Cardiovascular Medicine BACKGROUND: Coarctation of the aorta (CoA) is a common congenital cardiovascular malformation with aortic narrowing in the region of the ligamentum arteriosum. Hypertrophic cardiomyopathy (HCM) is a primary cardiomyopathy that is characterized by left ventricular wall thickening and likely left ventricular outflow tract (LVOT) obstruction. They are two irrelevant diseases, and their coexistence has not been reported before. Here, we described a young female patient who concurrently has CoA and HCM. CASE PRESENTATION: The patient has had hypertension since 18-years old and complained of chest discomfort on effort and fatigue thereafter. Initially, she was diagnosed as having hypertrophic cardiomyopathy and primary hypertension. The presence of CoA was not found until she was 35 years old when she had an onset of paroxysmal supraventricular tachycardia (PSVT) and presented with syncope. Failure of the ablation procedure via the femoral artery revealed the possibility of CoA and PDA that was confirmed by aortic CTA and angiography. CoA was then treated successfully with a covered stent, and the symptoms of the patient improved remarkably. Additionally, the patient had typical imaging features of HCM, and two novel HCM-causing heterozygous mutations were identified by genetic testing, DSP-encoding desmoplakin, and MYBPC3-encoding myosin-binding protein C. The HCM was suspected to be contributing to the clinical presentations of the patient and challenged the timely diagnosis of CoA. The 8-year follow-up on aortic CTA and angiography revealed no stent graft-related complications. Moreover, no changes in HCM-related imaging features were found in the follow-up echocardiography 8 years after the correction of aortic coarctation, which strengthened the diagnosis of HCM. CONCLUSION: Here, we reported the diagnostic challenges, management, and 8-yeasr follow-up findings in a rare case of CoA combined with HCM. The case highlighted the importance for physicians to exclude CoA in young hypertensive patients, and proved the efficacy of stent repair in treating CoA in older patients. Frontiers Media S.A. 2022-01-25 /pmc/articles/PMC8821647/ /pubmed/35146008 http://dx.doi.org/10.3389/fcvm.2021.818884 Text en Copyright © 2022 Yang, Wang, Li, Yan, Song, Zeng, He, Li and Wang. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Cardiovascular Medicine
Yang, Hong
Wang, Hong
Li, Zongzhe
Yan, Jiangtao
Song, Yu-E
Zeng, Hesong
He, Xingwei
Li, Rui
Wang, Dao Wen
Aortic Coarctation Associated With Hypertrophic Cardiomyopathy in a Woman With Hypertension and Syncope: A Case Report With 8-Year Follow-Up
title Aortic Coarctation Associated With Hypertrophic Cardiomyopathy in a Woman With Hypertension and Syncope: A Case Report With 8-Year Follow-Up
title_full Aortic Coarctation Associated With Hypertrophic Cardiomyopathy in a Woman With Hypertension and Syncope: A Case Report With 8-Year Follow-Up
title_fullStr Aortic Coarctation Associated With Hypertrophic Cardiomyopathy in a Woman With Hypertension and Syncope: A Case Report With 8-Year Follow-Up
title_full_unstemmed Aortic Coarctation Associated With Hypertrophic Cardiomyopathy in a Woman With Hypertension and Syncope: A Case Report With 8-Year Follow-Up
title_short Aortic Coarctation Associated With Hypertrophic Cardiomyopathy in a Woman With Hypertension and Syncope: A Case Report With 8-Year Follow-Up
title_sort aortic coarctation associated with hypertrophic cardiomyopathy in a woman with hypertension and syncope: a case report with 8-year follow-up
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8821647/
https://www.ncbi.nlm.nih.gov/pubmed/35146008
http://dx.doi.org/10.3389/fcvm.2021.818884
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