Opinion|Videos|November 13, 2026
Barth Syndrome at Every Age: What to Expect
Author(s)Hilary Vernon, MD, PhD , Majid Husain, MD
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.
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Dr. Husain traces the clinical trajectory from infancy through adulthood: neonates present with cardiomegaly, dilated ventricles, feeding failure, and risk of cardiogenic shock; the "honeymoon period" (ages 5-25) still carries neutropenia burden, growth delay, and up to 8 specialist visits per year; and long-term outcomes show ~50% cardiac mortality from heart failure, ~20% from sepsis, ~20% from arrhythmia. Dr. Vernon highlights that patients diagnosed later often had neutropenia-driven presentations without obvious early cardiomyopathy, underscoring underdiagnosis of milder phenotypes.
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