大量主动脉根部扩张的年轻男性先前未确诊肢端肥大症：一个病例报告和回顾。

IF 0.5 Q3 MEDICINE, GENERAL & INTERNAL

Oxford Medical Case Reports Pub Date : 2025-02-22 eCollection Date: 2025-02-01 DOI:10.1093/omcr/omae185

Mahmoud Gomaa, Hassan El-Shirbiny, Osama Elshaer

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引用次数: 0

摘要

背景：肢端肥大症是一种以生长激素（GH）分泌过多为特征的内分泌疾病，导致骨和组织异常增大。通常，它表现为明显的物理变化，但有些病例可能缺乏明显的特征，但仍有内部异常，如主动脉根扩张。虽然罕见，但家族史会引起怀疑。病例介绍：本报告报告一例23岁男性，无明显病史，胸部感染后出现严重呼吸困难。他没有明显的遗传或内分泌紊乱的身体特征，但他的叔叔患有肢端肥大症。超声心动图显示左心室肥厚和主动脉根大面积扩张。胰岛素样生长因子1 （IGF-1）升高证实肢端肥大症的诊断。患者接受了本特尔手术，他的肢端肥大症用奥曲肽治疗并定期随访。结论：该报告强调了潜在的遗传联系，以及与肢端肥大症相关的大量主动脉根部扩张的可能性。

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Massive aortic root dilation in a Young male with previously undiagnosed acromegaly: a case report and review.

Background: Acromegaly is an endocrine disorder characterized by excessive growth hormone (GH) production, causing abnormal bone and tissue enlargement. Typically, it presents with distinct physical changes, but some cases may lack noticeable features and still have internal abnormalities like aortic root dilation. Though rare, a family history can raise suspicion.

Case presentation: This report presents a case of a 23-year-old male with no significant medical history, who presented with severe dyspnea after a chest infection. He lacked distinct physical features of genetic or endocrinal disorders, but his uncle had acromegaly. Echocardiography revealed left ventricular hypertrophy and massive aortic root dilation. Elevated insulin-like growth factor 1 (IGF-1) confirmed the diagnosis of acromegaly. The patient underwent a Bentall procedure, and his acromegaly was managed with octreotide and regular follow-ups.

Conclusions: The report emphasizes the potential genetic link, and the possibility of massive aortic root dilation associated with acromegaly.

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来源期刊

Oxford Medical Case Reports MEDICINE, GENERAL & INTERNAL-

CiteScore

0.90

自引率

0.00%

发文量

125

审稿时长

19 weeks

期刊介绍： Oxford Medical Case Reports (OMCR) is an open access, peer-reviewed online journal publishing original and educationally valuable case reports that expand the field of medicine. The journal covers all medical specialities including cardiology, rheumatology, nephrology, oncology, neurology, and reproduction, comprising a comprehensive resource for physicians in all fields and at all stages of training. Oxford Medical Case Reports deposits all articles in PubMed Central (PMC). Physicians and researchers can find your work through PubMed , helping you reach the widest possible audience. The journal is also indexed in the Web of Science Core Collection . Oxford Medical Case Reports publishes case reports under the following categories: Allergy Audiovestibular medicine Cardiology and cardiovascular systems Critical care medicine Dermatology Emergency medicine Endocrinology and metabolism Gastroenterology and hepatology Geriatrics and gerontology Haematology Immunology Infectious diseases and tropical medicine Medical disorders in pregnancy Medical ophthalmology Nephrology Neurology Oncology Paediatrics Pain Palliative medicine Pharmacology and pharmacy Psychiatry Radiology, nuclear medicine, and medical imaging Respiratory disorders Rheumatology Sexual and reproductive health Sports Medicine Substance abuse.