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abstractpubmed· Abstract 2017· item PMID:28108107
Barth Syndrome with Late-Onset Cardiomyopathy: A Missed Opportunity for Diagnosis. 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.