AI Article Synopsis

  • * A case study details a young patient with heart issues identified as restrictive heart disease alongside primary amenorrhea, leading to her Kallmann syndrome diagnosis.
  • * The rare combination of cardiac problems in this syndrome suggests there might be an underlying genetic link that warrants further investigation.

Article 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.

Case Presentation: 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.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11026310PMC
http://dx.doi.org/10.1186/s43044-024-00479-1DOI Listing

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