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Late diagnosis of Barth syndrome in a 39‐year‐old patient with non‐compaction cardiomyopathy and neutropenia

Barth syndrome is a rare X‐linked recessive disorder characterized by a broad spectrum of clinical features including cardiac and skeletal myopathy, neutropenia, exercise intolerance, and growth delay. Most affected patients are diagnosed during childhood, and mortality is highest in the first years...

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Detalles Bibliográficos
Autores principales: Seitz, Andreas, Hinck, Annely, Bekeredjian, Raffi, Sechtem, Udo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7160505/
https://www.ncbi.nlm.nih.gov/pubmed/31967729
http://dx.doi.org/10.1002/ehf2.12588
Descripción
Sumario:Barth syndrome is a rare X‐linked recessive disorder characterized by a broad spectrum of clinical features including cardiac and skeletal myopathy, neutropenia, exercise intolerance, and growth delay. Most affected patients are diagnosed during childhood, and mortality is highest in the first years of life. As a consequence, Barth syndrome is often considered a paediatric disease. Here, we report a case where the diagnosis was established in a 39‐year‐old patient with left ventricular non‐compaction and neutropenia. The clinical course of the patient presented here was relatively benign. This suggests that the prevalence of Barth syndrome in adults may be underestimated. Barth syndrome should be considered in the differential diagnosis of male patients with cardiomyopathy and neutropenia.