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

AbstractBarth 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 consequen ce, 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.

Source: ESC Heart Failure - January 21, 2020 Category: Cardiology Authors: Andreas Seitz, Annely Hinck, Raffi Bekeredjian, Udo Sechtem Tags: Case Report Source Type: research