Symptoms
- Neutropenia - low neutrophil count in blood
- Cardiomyopathy - weak cardiac muscle due enlargement, dilated ventricles or endocardial fibroelastosis
- Growth retardation - below average height during childhood, but normal height in teenage years
- Muscle weakness - caused by low output of cellular energy.
Impact on life expectancy
- exposure to serious infections that can cause sepsis
- A weak heart could cause a heart attack, usually occurs before the age of three
- Increased fatigue when running, unable to do sports or keep up with other children
Barth Syndrome (BTHS)
Barth Syndrome
By Hayley Trull
- First describe by Peter Barth, a pediatric neurologist
- studying a dutch family that had several cases that match common symptoms of BTHS.
- An X-linked genetic condition with carriers (mother) who are asymptomatic
- A mutation of in the TAZ gene
- Affects the formation of Mitochondrial lipid membranes in muscle.
- Tends to be an overlooked diagnosis for infant patients.