In a first-of-its-kind study, researchers from the United States and Europe discovered genetic mutations associated with long QT syndrome (LQTS), a genetic abnormality in the heart's electrical system, in a small number of intrauterine fetal deaths, according to a study in the April 10 issue of the Journal of the American Medical Association.
Researchers conducted a molecular genetic evaluation (referred to as a postmortem cardiac channel molecular autopsy) in 91 cases of unexplained fetal death (stillbirths) from 2006-2012. They discovered the prevalence of mutations in the three most common LQTS-susceptible genes, KCNQ1, KCNH2 and SCN5A. Two of the most common genes were discovered in three cases (KCNQ1 and KCNH2); and five of the cases exhibited SCN5A rare non-synonymous genetic variants.
Intrauterine fetal death or still birth happens in approximately one out of every 160 pregnancies and accounts for 50 percent of all perinatal deaths. "We know that the post-mortem evaluation often has not been able to explain these deaths," says Michael J. Ackerman, M.D., Ph.D., pediatric cardiologist at Mayo Clinic and co-study senior author along with Peter J. Schwartz, M.D., Ph.D., of the University of Pavia, Italy. "Those of us who study LQTS and treat LQTS patients have often wondered whether LQTS may be the cause of some of these deaths."
In the study, more than 1,300 ostensibly healthy individuals served as controls. In addition, publicly available exome (the entire portion of the genome consisting of protein-coding sequences) databases were assessed for the general population frequency of identified genetic variances.
"Our preliminary evidence suggests that LQTS may be the cause for approximately 5 percent of otherwise unexplained stillbirths and points to the need for further large-scale studies," says Dr. Ackerman, director of Mayo's LQTS Clinic and Windland Smith Rice Cardiovascular Genomics Research Professor. "With LQTS, when we know of its presence, it is a very treatable condition but still more work needs to be done to prevent the family's first tragedy from occurring."
In LQTS, which affects one in 2,000 people, the rapid heartbeats can trigger a sudden fainting spell, seizure, or sudden death. Life-threatening cardiac arrhythmias can occur unexpectedly, mainly during childhood or adolescence. Treatment can involve medication, medical devices, or surgery.
Mayo Clinic: http://www.mayoclinic.org/news
This press release was posted to serve as a topic for discussion. Please comment below. We try our best to only post press releases that are associated with peer reviewed scientific literature. Critical discussions of the research are appreciated. If you need help finding a link to the original article, please contact us on twitter or via e-mail.
Close to real-time tracking of deadly superbugs such as MRSA promises to close down outbreaks faster and save lives
Western Australia's shark cull is to be halted after the state's environmental regulator advised against it, citing "scientific uncertainty".
23andMe hired new executives experienced in health regulation to oversee FDA approval of its genetics diagnostics kit
For those who think there are not enough hours in the day, researchers may have just offered you a solution. The brain can continue tasks even while asleep, a study finds. Texting not included, alas.
It roamed land and sea and snacked on giant fish. The first few spinosaurus bones were discovered a century ago, but destroyed in WWII. A more complete, second specimen reveals a terrifying predator.
Geneticist Wendy Chung describes what it's like to chip away at the mysteries of autism, and the excitement of uncovering tiny but critical clues.
Thin area of skull allows light into brain
Scientists in Birmingham are trialling new medical tests that lead to rapid, pitchside diagnosis of concussion in sport.
A 24-year-old woman has discovered that her cerebellum is completely missing, explaining some of the unusual problems she has had with movement and speech
We need to feel a certain gravitational force to tell up from down, which has big implications for the design of objects for bases on other planets