限制性心脏病与卡尔曼综合征并存的罕见病例报告

Ghali Bennani, Soukaina Zahri, Mohamed Khaldi, Ghali Benouna, Abdenasser Drighil, Rachida Habbal
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引用次数: 0

摘要

卡尔曼-莫西埃综合征是一种罕见的疾病,其特点是伴有先天性促性腺激素缺乏和无睾症或睾丸发育不全。与该综合征相关的心脏表现鲜为人知。通过本病例,我们将根据文献中已有的描述来描述这种疾病累及心脏的特点。我们报告了一例年轻患者的病例,她出现心脏失代偿症状,显示为局限性心脏病。在对她进行检查时,发现她有原发性闭经,因此诊断为卡尔曼综合征。为了治疗她的心脏失代偿以及青春期发育延迟,医生对她进行了优化的药物治疗和激素替代治疗。Kallmann-Morsier 综合征的心脏表现在文献中鲜有报道,限制性心脏病也不常见,至今尚无病例报道。这种关联提示可能存在共同的遗传起源,今后应对此进行研究。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Unusual coexistence of restrictive heart disease and Kallmann syndrome: a case report
Kallmann–Morsier syndrome is a rare disease characterized by the association of congenital gonadotropic deficiency and anosmia or hyposmia. The cardiac manifestations associated with this syndrome are little known. Through this case, we will characterize the cardiac involvement of this disease in the light of what is already described in the literature. We report the case of a young patient who presented with a picture of cardiac decompensation revealing restrictive heart disease. In her exploration, she was found to have primary amenorrhea, leading to the diagnosis of Kallmann syndrome. Medical treatment was optimized for the management of her cardiac decompensation as well as hormonal replacement treatment for her delayed puberty and growth. Cardiac manifestations in Kallmann–Morsier syndrome are few reported in the literature, and restrictive heart disease is uncommon with no cases report till now. This association suggests a possible common genetic origin that should be explored in the future.
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