Related Experiment Video
Updated: Jun 21, 2026

Fingerprinting Cardiolipin in Leukocytes by Mass Spectrometry for a Rapid Diagnosis of Barth Syndrome
Published on: March 23, 2022
Dysmorphology of Barth syndrome
Rob Hastings1, Colin Steward, Beverly Tsai-Goodman
1Departments of Clinical Genetics, Bristol Royal Hospital for Children, University Hospitals Bristol NHS Foundation Trust, UK.
Abstract:
Barth syndrome is an X-linked recessive condition caused by defective remodelling of cardiolipins in mitochondrial membranes because of mutations in the tafazzin (TAZ1/G4.5) gene located at Xq28. The cardinal features of Barth syndrome are cardiac and skeletal myopathy and neutropaenia, reported in the initial description of this condition by Barth et al. (J Neurol Sci 62:327-355) in 1983. Many features of the Barth phenotype have been described but there is no published comment on the facial appearance of these boys, which is consistent and characteristic of this condition.
More Related Videos
Related Concept Videos
Barrett Esophagus-I: Introduction
This constant acid exposure transforms the esophagus's pink mucosal lining (stratified squamous epithelium) into a type of lining more similar...
Barrett Esophagus-II: Clinical Manifestations and Management
To diagnose Barrett's esophagus, healthcare providers often recommend an endoscopy for those showing symptoms of acid reflux. The procedure entails...
Cirrhosis I: Introduction
Histology of the Small Intestine
The intestinal lining features transverse folds called circular folds, each housing fingerlike projections known as intestinal villi. These villi are covered by a layer of simple columnar epithelium, also referred to as...
Upper GI Series: Barium Swallow
Purpose and Procedure
Patients undergoing this procedure ingest a liquid containing barium sulfate with a chalky...
Cardiomyopathy III: Hypertrophic Cardiomyopathy

