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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.
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