Barth Syndrome at Every Age: What to Expect

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13 Nov 2026 0 comments

Dr. Husain outlines the disease course from infancy (cardiomegaly, dilated ventricles, feeding failure, and risk of cardiogenic shock) through a “honeymoon period” of ages 5-25 marked by ongoing neutropenia, growth delay, and frequent specialist visits, to long-term mortality driven mainly by heart failure (~50%), sepsis (~20%), and arrhythmia (~20%), while Dr. Vernon notes that later-diagnosed patients often present with neutropenia but no obvious early cardiomyopathy, pointing to underdiagnosis of milder phenotypes.