Hilary Vernon, MD, PhD

Dr. Vernon explains that TAZ gene mutations disrupt cardiolipin remodeling in the inner mitochondrial membrane, leading to buildup of immature monolysocardiolipin and impaired ATP synthesis that underlies all major clinical features, while Dr. Husain frames energy demand across life stages (feeding in infancy, recess activity in school age, declining exercise tolerance in adulthood) and the panel discusses the dual burden of cardiac and skeletal muscle dysfunction that makes fatigue difficult to attribute to either.

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.