Heterotaxy Syndrome Overview
Learn About Heterotaxy Syndrome
Heterotaxy syndrome is a condition in which the internal organs are abnormally arranged in the chest and abdomen. The term "heterotaxy" is from the Greek words "heteros," meaning "other than," and "taxis," meaning "arrangement." Individuals with this condition have complex birth defects affecting the heart, lungs, liver, spleen, intestines, and other organs.
Heterotaxy syndrome can be caused by mutations in many different genes. The proteins produced from most of these genes play roles in determining which structures should be on the right side of the body and which should be on the left, a process known as establishing left-right asymmetry. This process occurs during the earliest stages of embryonic development. Dozens of genes are probably involved in establishing left-right asymmetry; mutations in at least 20 of these genes have been identified in people with heterotaxy syndrome.
The prevalence of heterotaxy syndrome is estimated to be 1 in 10,000 people worldwide. However, researchers suspect that the condition is underdiagnosed, and so it may actually be more common than this. Heterotaxy syndrome accounts for approximately 3 percent of all congenital heart defects. For reasons that are unknown, the condition appears to be more common in populations in Asia than in North America and Europe. Recent studies report that in the United States, the condition occurs more frequently in children born to Black or Hispanic mothers than in children born to white mothers.
Most often, heterotaxy syndrome is sporadic, meaning that only one person in a family is affected. However, about 10 percent of people with heterotaxy syndrome have a close relative (such as a parent or sibling) who has a congenital heart defect without other apparent features of heterotaxy syndrome. Isolated congenital heart defects and heterotaxy syndrome may represent a range of signs and symptoms that can result from a particular genetic mutation; this situation is known as variable expressivity. It is also possible that different genetic and environmental factors combine to produce isolated congenital heart defects in some family members and heterotaxy syndrome in others.
Department Of Cardiology
David Schidlow is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Schidlow is rated as an Elite provider by MediFind in the treatment of Heterotaxy Syndrome. His top areas of expertise are Heterotaxy Syndrome, Hypoplastic Left Heart Syndrome (HLHS), Total Anomalous Pulmonary Venous Return, Transposition of the Great Arteries, and Septoplasty.
Texas Children's Pavilion For Women Radiology
Heather Dickerson is a Pediatric Cardiologist in Houston,, Texas. Dr. Dickerson is rated as an Elite provider by MediFind in the treatment of Heterotaxy Syndrome. Her top areas of expertise are Heterotaxy Syndrome, Congenital Heart Disease (CHD), Situs Inversus, and Dextrocardia with Situs Inversus.
Department Of Cardiology
Tal Geva is a Pediatric Cardiologist in Boston, Massachusetts. Dr. Geva is rated as an Elite provider by MediFind in the treatment of Heterotaxy Syndrome. His top areas of expertise are Tetralogy of Fallot, Heterotaxy Syndrome, Ventricular Septal Defects, Heart Valve Repair, and Heart Transplant.
Summary: The goal of this study is to obtain specimens and data from individuals and their families with heterotaxy and related congenital heart defects in order to clarify the molecular genetics of this disorder. The knowledge gained from the analysis of this information will provide the basis for future genetic counseling as well as contribute to knowledge about the biology of normal and abnormal develop...
Published Date: March 01, 2019
Published By: National Institutes of Health