Navigation Links
Study identifies second gene associated with specific congenital heart defects

A gene known to be important in cardiac development has been newly associated with congenital heart malformations that result in obstruction of the left ventricular outflow tract. These are the findings from a study conducted by Nationwide Children's Hospital and appearing in the journal Birth Defects Research Part A.

Left ventricular outflow tract (LVOT) malformations, including aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome, Shone complex and interrupted aortic arch type A, are responsible for a major portion of childhood death from congenital heart malformations. Yet it is often unclear how these defects develop.

"While 10 to 15 percent of people with an LVOT defect have a chromosomal defect such as Turner syndrome, the causes for most LVOT defects remain unknown," said one of the study's authors Kim McBride, MD, MS, principal investigator in the Center for Molecular and Human Genetics at The Research Institute at Nationwide Children's Hospital.

Recent studies suggest a genetic component to these heart malformations. Aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome and bicuspid aortic valve have been reported to recur within single families. Nationwide Children's faculty has also identified several chromosomal regions that show evidence of being linked to LVOT malformations.

"It is estimated that there are more than 500 genes that may be important in heart development," said Dr. McBride, also a faculty member at The Ohio State University College of Medicine. "Changes in any of these genes may impact how a child's heart forms."

To identify specific genes, investigators examined the DNA of children treated for LVOT malformations and their parents, enrolled by Dr. McBride at Nationwide Children's Hospital or by Dr. John Belmont and his team in the Department of Molecular and Human Genetics, Baylor College of Medicine at Texas Children's Hospital. Research indicates that LVOT defects share a common developmental mechanism, thus they focused on genes from a signaling pathway shown to be important in cardiac development.

Findings showed an association between the gene ERBB4 and LVOT defects. ERBB4 encodes a protein that serves as an "on" or "off" switch in many cellular functions during heart development. The association with LVOT defects was noted not only for the whole group of defects, but also individually for aortic valve stenosis, coarctation of the aorta and hypoplastic left heart syndrome.

"The precise defect in this very large gene is not yet known," said Dr. McBride. "ERBB4 now joins a previously identified gene, NOTCH1, as a susceptibility gene for LVOT defects. Replication of these results in other subjects will be required to better determine its role in the development of the heart malformations."


Contact: Mary Ellen Peacock
Nationwide Children's Hospital

Related medicine news :

1. Despite Treatment, Employees with Depression Generate Higher Absentee Costs, According to Thomson Reuters Study
2. American Council on Exercise (ACE) Study Reveals Kettlebells Provide Powerful Workout in Short Amount of Time
3. TV drama can be more persuasive than news program, study finds
4. Study carried out into biological risks of eating reptiles
5. Neuroimaging study may pave way for effective Alzheimers treatments
6. Study finds racial gaps continue in heart disease awareness
7. Luth Researchs IndicatorEDG(TM) Study Finds Americans Hopes of Achieving Their Dreams Are Fading
8. First blinded study of venous insufficiency prevalence in MS shows promising results
9. Soothing infants with food focus of childhood obesity study
10. People with anxiety disorder less able to regulate response to negative emotions, study shows
11. American Heart Association Rapid Access Journal Report: Study Finds Racial Gaps Continue in Heart Disease Awareness, Low Knowledge of Heart Attack Warning Signs Among Women
Post Your Comments:
(Date:12/1/2015)... ... December 01, 2015 , ... ... must mark the film for accurate interpretation by the radiologist. The marking utensils ... inventor from Sacramento, Calif., has found a way to alleviate this problem. , ...
(Date:12/1/2015)... ... December 01, 2015 , ... Visage accelerates mobile ... wholly owned subsidiary of Pro Medicus Ltd. (ASX: PME), has announced they are ... of North America (RSNA) 2015 annual meeting through December 3 in Chicago, Illinois, ...
(Date:12/1/2015)... , ... December 01, 2015 , ... ... it has been selected as a finalist in this year’s Fierce Innovation Awards: ... Next IT Healthcare was recognized as a finalist in the category of Digital ...
(Date:12/1/2015)... ... December 01, 2015 , ... Lutronic, a leading innovator of aesthetic and ... to the devices for sale in the United States. Clarity is a Superior ... nm Nd:YAG lasers, into a single platform that is easy to own and operate. ...
(Date:12/1/2015)... ... December 01, 2015 , ... ... Effective Post-Affiliation Integration ,” addresses a main “pain point” for merging or aligning ... results, once a deal is signed. This quick-read guidance suggests that failing ...
Breaking Medicine News(10 mins):
(Date:12/1/2015)... , Dec. 1, 2015 As enforcement of ... Chain Security Act (DSCSA) approaches, InfiniTrak ... independent pharmacies comply with looming FDA regulations. ... is entering endorsement agreements with State Pharmacy Associations, ... administration organization (PSAO) to exclusively provide the InfiniTrak ...
(Date:12/1/2015)... ) ... "Spinal Muscular Atrophy Market - Pipeline Assessment, ... 2023" report to their offering. ... addition of the "Spinal Muscular Atrophy ... and Forecast 2015 - 2023" report ...
(Date:12/1/2015)... AMSTERDAM , Dec. 1, 2015 /PRNewswire/ -- ... announced SkyFlow , an X-ray imaging software that ... clinicians decide not to use a grid, at the ... (RSNA) 1 . SkyFlow is Philips, first digital ... for grid-less radiography, which improves clinician,s workflow and supports ...
Breaking Medicine Technology: