Mutations in NOTCH1 cause aortic valve disease

Vidu Garg (), Alecia N. Muth, Joshua F. Ransom, Marie K. Schluterman, Robert Barnes, Isabelle N. King, Paul D. Grossfeld and Deepak Srivastava ()
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Vidu Garg: University of Texas Southwestern Medical Center
Alecia N. Muth: University of Texas Southwestern Medical Center
Joshua F. Ransom: University of Texas Southwestern Medical Center
Marie K. Schluterman: University of Texas Southwestern Medical Center
Robert Barnes: University of Texas Southwestern Medical Center
Isabelle N. King: University of Texas Southwestern Medical Center
Paul D. Grossfeld: University of California
Deepak Srivastava: University of Texas Southwestern Medical Center

Nature, 2005, vol. 437, issue 7056, 270-274

Abstract: NOTCH1 in heart disease A genetic basis for aortic valve calcification, a leading cause of heart disease in adults, has been discovered in a study of congenital heart disease in five generations of the same family. The disease was apparent in family members with a mutation in the transcriptional regulator NOTCH1. The mutant gene causes heart valve defects in transgenic mice. NOTCH1 mutations have previously been identified in human blood cancers, but this is the first indication that it has a role in the development of the heart.

Date: 2005
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DOI: 10.1038/nature03940

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