Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 28108107.
- Also identified by DOI 10.1016/j.jpeds.2016.12.070.
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Abstract
A male infant presented with neutropenia, growth delay, and death of a maternal uncle at age 2 years. Despite extensive evaluation over 10 years, Barth syndrome was not diagnosed until he presented in acute heart failure. Although late-onset cardiomyopathy is rare, persistence of common Barth features should have enabled earlier diagnosis.
Medical subject headings
- Barth Syndrome
- Cardiomyopathy, Dilated
- Delayed Diagnosis
- Heart Failure
- Neutropenia