The sudden death of 13-year-old boy led to the misdiagnosis of potentially lethal heart rhythm condition of 20 relatives. According to the Mayo Clinic study published in the «Mayo Clinic Proceedings», the wrong diagnosis as a result of improper use of genetic testing and misinterpretation of the results of genetic tests.
This case highlights the potential dangers of genetic testing if used incorrectly. After the death of family members of the boy he was diagnosed with long QT syndrome, inherited heart rhythm (rapid and chaotic heartbeat). In some cases, this leads to sudden death. People can be born with a genetic mutation which causes long QT syndrome. As a result, the boy's brother as prophylaxis implanted defibrillators (ICDs) that stop the potentially fatal arrhythmia. According to Dr. Ackerman from the Mayo Clinic, genetic testing is done by family members on the paternal side, which led to an incorrect diagnosis of long QT interval in 20 family syndrome.
The family went to the Mayo Clinic for re-examination. During the first clinical assessment Dr. Ackerman reacted suspiciously to early diagnosis. Over the years, 40 percent of patients, delivered to the Mayo Clinic with a diagnosis of Long QT Syndrome, appeared healthy.
"The case of the family - an example of misdiagnosis, particularly in relation to genetic test results," - says Ackerman. None of the relatives who had come for a new visit to the Mayo Clinic, there were no symptoms of Long QT syndrome. Since receiving ICDs brother boy twice received electrical impulses unnecessarily.
Then Dr. Ackerman and other researchers have tried to identify the true cause of the boy's death. "We found that the boy was tragically killed by an abnormal condition of the heart muscle caused by a different genetic defect is not related to the syndrome of prolonged interval QT», - says the doctor.
"It's a family study underscores how important it is to understand things correctly at the first attempt, including genetic testing and its correct interpretation. When the genotype of the phenotype prevails, there is irreparable, "- says Ackerman.
Based on materials medicalxpress.com