A Case of Uncommon Quadricuspid Aortic Valve Stenosis Associated With Noonan Syndrome and Acromegaly

Quadricuspid aortic valve (QAV) is a congenital aortic valve malformation usually associated with aortic regurgitation. We encountered a patient with Noonan syndrome (NS) who had severe QAV stenosis caused by degenerative aortic cusps with an unprecedented spherical cyst-like morphology. The patient...

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Main Authors: Chie Bujo, Kensuke Tsushima, Kan Nawata, Ryo Inuzuka, Aya Shinozaki-Ushiku, Genri Numata, Norifumi Takeda, Masaru Hatano, Hiroyuki Morita, Minoru Ono, Issei Komuro
Format: Article
Language:English
Published: American College of Physicians 2023-08-01
Series:Annals of Internal Medicine: Clinical Cases
Online Access:https://www.acpjournals.org/doi/10.7326/aimcc.2022.1356
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author Chie Bujo
Kensuke Tsushima
Kan Nawata
Ryo Inuzuka
Aya Shinozaki-Ushiku
Genri Numata
Norifumi Takeda
Masaru Hatano
Hiroyuki Morita
Minoru Ono
Issei Komuro
author_facet Chie Bujo
Kensuke Tsushima
Kan Nawata
Ryo Inuzuka
Aya Shinozaki-Ushiku
Genri Numata
Norifumi Takeda
Masaru Hatano
Hiroyuki Morita
Minoru Ono
Issei Komuro
author_sort Chie Bujo
collection DOAJ
description Quadricuspid aortic valve (QAV) is a congenital aortic valve malformation usually associated with aortic regurgitation. We encountered a patient with Noonan syndrome (NS) who had severe QAV stenosis caused by degenerative aortic cusps with an unprecedented spherical cyst-like morphology. The patient had also developed adult-onset acromegaly and an elevated serum growth hormone (GH) level that might have caused myxomatous degeneration of the congenital QAV. Although recombinant human GH has been used extensively in NS patients with short stature, this patient's case suggests that it is reasonable to monitor valvular degeneration as a possible outcome of GH action and cardiac hypertrophy.
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issn 2767-7664
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publishDate 2023-08-01
publisher American College of Physicians
record_format Article
series Annals of Internal Medicine: Clinical Cases
spelling doaj-art-b7013d142d584e5f996ef9e7698fd3682025-08-20T02:27:22ZengAmerican College of PhysiciansAnnals of Internal Medicine: Clinical Cases2767-76642023-08-012810.7326/aimcc.2022.1356A Case of Uncommon Quadricuspid Aortic Valve Stenosis Associated With Noonan Syndrome and AcromegalyChie Bujo0Kensuke Tsushima1Kan Nawata2Ryo Inuzuka3Aya Shinozaki-Ushiku4Genri Numata5Norifumi Takeda6Masaru Hatano7Hiroyuki Morita8Minoru Ono9Issei Komuro101Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan1Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan2Department of Cardiovascular Surgery, St. Marianna University School of Medicine, Miyamae-ku, Kawasaki, Kanagawa, Japan3Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan4Department of Pathology, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan1Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan1Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan1Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan1Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan5Department of Cardiac Surgery, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, Japan1Department of Cardiovascular Medicine, Graduate School of Medicine, The University of Tokyo, Bunkyo-ku, Tokyo, JapanQuadricuspid aortic valve (QAV) is a congenital aortic valve malformation usually associated with aortic regurgitation. We encountered a patient with Noonan syndrome (NS) who had severe QAV stenosis caused by degenerative aortic cusps with an unprecedented spherical cyst-like morphology. The patient had also developed adult-onset acromegaly and an elevated serum growth hormone (GH) level that might have caused myxomatous degeneration of the congenital QAV. Although recombinant human GH has been used extensively in NS patients with short stature, this patient's case suggests that it is reasonable to monitor valvular degeneration as a possible outcome of GH action and cardiac hypertrophy.https://www.acpjournals.org/doi/10.7326/aimcc.2022.1356
spellingShingle Chie Bujo
Kensuke Tsushima
Kan Nawata
Ryo Inuzuka
Aya Shinozaki-Ushiku
Genri Numata
Norifumi Takeda
Masaru Hatano
Hiroyuki Morita
Minoru Ono
Issei Komuro
A Case of Uncommon Quadricuspid Aortic Valve Stenosis Associated With Noonan Syndrome and Acromegaly
Annals of Internal Medicine: Clinical Cases
title A Case of Uncommon Quadricuspid Aortic Valve Stenosis Associated With Noonan Syndrome and Acromegaly
title_full A Case of Uncommon Quadricuspid Aortic Valve Stenosis Associated With Noonan Syndrome and Acromegaly
title_fullStr A Case of Uncommon Quadricuspid Aortic Valve Stenosis Associated With Noonan Syndrome and Acromegaly
title_full_unstemmed A Case of Uncommon Quadricuspid Aortic Valve Stenosis Associated With Noonan Syndrome and Acromegaly
title_short A Case of Uncommon Quadricuspid Aortic Valve Stenosis Associated With Noonan Syndrome and Acromegaly
title_sort case of uncommon quadricuspid aortic valve stenosis associated with noonan syndrome and acromegaly
url https://www.acpjournals.org/doi/10.7326/aimcc.2022.1356
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