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Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report

BACKGROUND: Acute Stanford type A aortic dissection (ATAAD) is a life-threatening disease. Elderly patients are the high-risk population for aortic dissection (AD). Young patients with AD usually have heritable connective tissue diseases such as Marfan syndrome and Loeys-Dietz syndrome. However, you...

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Autores principales: Zeng, Yifan, Hu, Yerong, Jiang, Bo, Tan, Ling, Tang, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9685306/
https://www.ncbi.nlm.nih.gov/pubmed/36440024
http://dx.doi.org/10.3389/fcvm.2022.1030160
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author Zeng, Yifan
Hu, Yerong
Jiang, Bo
Tan, Ling
Tang, Hao
author_facet Zeng, Yifan
Hu, Yerong
Jiang, Bo
Tan, Ling
Tang, Hao
author_sort Zeng, Yifan
collection PubMed
description BACKGROUND: Acute Stanford type A aortic dissection (ATAAD) is a life-threatening disease. Elderly patients are the high-risk population for aortic dissection (AD). Young patients with AD usually have heritable connective tissue diseases such as Marfan syndrome and Loeys-Dietz syndrome. However, young AD patients without heritable connective tissue disease are relatively rare. CASE PRESENTATION: Herein, we report a case of a 25-year-old female diagnosed with ATAAD accompanied by undeveloped secondary sexual characteristics. Computed tomography angiography (CTA) showed that her AD involved the ascending and abdominal aorta. She had undergone thoracic endovascular aortic stent graft implantation in a local hospital due to acute Stanford type B aortic dissection at age 19. No uterus or ovaries were found on CTA and transabdominal ultrasonography. Sex hormone detection revealed a low estrogen level. G-banded karyotyping analyses revealed a normal 46,XX karyotype. Finally, her abnormalities in the reproductive system were diagnosed as MRKH syndrome and 46,XX gonadal dysgenesis. Whole-exome sequencing (WES) in the patient found an SNP variant of ACTA2 c.773G>A and MYH11 c.5081A>G. MYH11 c.5081A>G was also found in her mother and younger brother. Copy number variations sequencing (CNV-seq) found an approximately 109.30 Kb duplication at chromosome 6p22.3 (Chr 6: g.24920238–25029535) with a copy number of 3. We performed emergent total aortic arch replacement with frozen elephant trunk surgery, and the patient recovered well after surgery. However, her abdominal AD was stilling progression during 6 months of follow-up. CONCLUSION: To our knowledge, we report the world's first case of early-onset recurrent AD combined with MRKH syndrome and 46,XX gonadal dysgenesis.
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spelling pubmed-96853062022-11-25 Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report Zeng, Yifan Hu, Yerong Jiang, Bo Tan, Ling Tang, Hao Front Cardiovasc Med Cardiovascular Medicine BACKGROUND: Acute Stanford type A aortic dissection (ATAAD) is a life-threatening disease. Elderly patients are the high-risk population for aortic dissection (AD). Young patients with AD usually have heritable connective tissue diseases such as Marfan syndrome and Loeys-Dietz syndrome. However, young AD patients without heritable connective tissue disease are relatively rare. CASE PRESENTATION: Herein, we report a case of a 25-year-old female diagnosed with ATAAD accompanied by undeveloped secondary sexual characteristics. Computed tomography angiography (CTA) showed that her AD involved the ascending and abdominal aorta. She had undergone thoracic endovascular aortic stent graft implantation in a local hospital due to acute Stanford type B aortic dissection at age 19. No uterus or ovaries were found on CTA and transabdominal ultrasonography. Sex hormone detection revealed a low estrogen level. G-banded karyotyping analyses revealed a normal 46,XX karyotype. Finally, her abnormalities in the reproductive system were diagnosed as MRKH syndrome and 46,XX gonadal dysgenesis. Whole-exome sequencing (WES) in the patient found an SNP variant of ACTA2 c.773G>A and MYH11 c.5081A>G. MYH11 c.5081A>G was also found in her mother and younger brother. Copy number variations sequencing (CNV-seq) found an approximately 109.30 Kb duplication at chromosome 6p22.3 (Chr 6: g.24920238–25029535) with a copy number of 3. We performed emergent total aortic arch replacement with frozen elephant trunk surgery, and the patient recovered well after surgery. However, her abdominal AD was stilling progression during 6 months of follow-up. CONCLUSION: To our knowledge, we report the world's first case of early-onset recurrent AD combined with MRKH syndrome and 46,XX gonadal dysgenesis. Frontiers Media S.A. 2022-11-10 /pmc/articles/PMC9685306/ /pubmed/36440024 http://dx.doi.org/10.3389/fcvm.2022.1030160 Text en Copyright © 2022 Zeng, Hu, Jiang, Tan and Tang. 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
Zeng, Yifan
Hu, Yerong
Jiang, Bo
Tan, Ling
Tang, Hao
Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report
title Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report
title_full Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report
title_fullStr Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report
title_full_unstemmed Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report
title_short Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report
title_sort unusual combination of acute aortic dissection, mayer-rokitansky-küster-hauser syndrome, and 46,xx gonadal dysgenesis: a case report
topic Cardiovascular Medicine
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9685306/
https://www.ncbi.nlm.nih.gov/pubmed/36440024
http://dx.doi.org/10.3389/fcvm.2022.1030160
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