PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: 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.
CONCLUSIONS: 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.
METHODS: 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.
CONCLUSIONS: 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.
摘要：
背景：Kallmann-Morsier综合征是一种罕见的疾病，其特征是先天性促性腺激素缺乏与嗅觉缺失或嗅觉减退有关。与该综合征相关的心脏表现鲜为人知。通过这个案子,我们将根据文献中已经描述的内容来描述这种疾病的心脏受累。
方法：我们报告了一个年轻患者的案例，该患者的心脏代偿失调的图片显示限制性心脏病。在她的探索中,她被发现患有原发性闭经,导致Kallmann综合征的诊断。针对心脏代偿失调的管理以及针对青春期和生长延迟的激素替代治疗，优化了药物治疗。
结论：文献中很少报道Kallmann-Morsier综合征的心脏表现，限制性心脏病并不常见，至今没有病例报告。这种关联表明了未来应该探索的可能的共同遗传起源。
方法：我们报告了一个年轻患者的案例，该患者的心脏代偿失调的图片显示限制性心脏病。在她的探索中,她被发现患有原发性闭经,导致Kallmann综合征的诊断。针对心脏代偿失调的管理以及针对青春期和生长延迟的激素替代治疗，优化了药物治疗。
结论：文献中很少报道Kallmann-Morsier综合征的心脏表现，限制性心脏病并不常见，至今没有病例报告。这种关联表明了未来应该探索的可能的共同遗传起源。
