Medical Professional Publications

Research Now: Genetics Behind the Most Common Congenital Heart Malformation

Dr. Vidu Garg has developed a mouse model of bicuspid aortic valve to study how the disease develops

Bicuspid aortic valve is the most common congenital heart malformation with a prevalence of 1%.  While usually asymptomatic in children, bicuspid aortic valve results in significant morbidity during adulthood primarily due to calcium deposition on the valve cusps resulting in aortic valve stenosis.  The molecular mechanisms underlying the development of bicuspid aortic valve and aortic valve calcification are not well understood.  Using human genetic approaches, Dr. Vidu Garg, principal investigator in the Center for Cardiovascular and Pulmonary Research, previously linked mutations in the gene, NOTCH1, to bicuspid aortic valve and subsequent studies have supported a role for NOTCH1 in valve calcification.  Using mice that have only one copy of the Notch1 gene, Dr. Garg’s team has developed a mouse model of bicuspid aortic valve and hope to utilize this model to understand what goes wrong to result in a bicuspid aortic valve and how it becomes diseased.

Select citations:
Acharya A, Hans CP, Koenig SN, Nichols HA, Galindo C, Garner HR, Merrill WH, Hinton RB, Garg, V.  “Inhibitory role of Notch1 in calcific aortic valve disease is mediated by Sox9.”  PLoS One 6(11):e27743 (2011).

Garg V, Muth AN, Ransom JF, Schluterman MK, Barnes R, King IN, Grossfeld PD, Srivastava D.  “Mutations in NOTCH1 Cause Aortic Valve Disease”.  Nature 437(7056):270-274 (2005).

Contact: Vidu Garg, MD

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