Concepedia

Barth syndrome: an <b>X</b>‐linked cause of fetal cardiomyopathy and stillbirth

Colin G. Steward, RA Newbury-Ecob, Rob Hastings, Sarah Smithson, B Tsai-Goodman, OW Quarrell, Wim Kulik, Ronald Wanders, Michael Pennock, Maggie Williams,

Prenatal Diagnosis · 2010 · 114 citations · 25 references

DOI Full text

Open access

Abstract

These findings stress the importance of considering BTHS in the differential diagnosis of unexplained male hydrops, DCM, EFE, LVNC or pregnancy loss, as well as in neonates with hypoglycemia, lactic acidosis and idiopathic mitochondrial disease.

References

25

A novel X-linked gene, G4.5. is responsible for Barth syndrome

Silvia Bione, Patrizia D’Adamo, Elena Maestrini et al. · Nature Genetics · 1996 · 748 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

An X-linked mitochondrial disease affecting cardiac muscle, skeletal muscle and neutrophil leucocytes

P. G. Barth, H.R. Scholte, J.A. Berden et al. · Journal of the Neurological Sciences · 1983 · 695 citations

Mitochondrial Myopathy, Cardiac Muscle, Cardiomyopathy +10

Novel Gene Mutations in Patients With Left Ventricular Noncompaction or Barth Syndrome

Fukiko Ichida, Shinichi Tsubata, Karla R. Bowles et al. · Circulation · 2001 · 557 citations

Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome

P. Vreken, Fredoen Valianpour, Leo Nijtmans et al. · Biochemical and Biophysical Research Communications · 2000 · 372 citations

Metabolic Syndrome, Defective Remodeling, Cardiomyopathy +8

Neonatal, Lethal Noncompaction of the Left Ventricular Myocardium Is Allelic with Barth Syndrome

Steven B. Bleyl, Brian R. Mumford, Victor Thompson et al. · The American Journal of Human Genetics · 1997 · 292 citations · Full text

Cardiomyopathy, Heart Failure, Structural Heart Disease +10