Andersen-Tawil syndrome primary prevention
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]
Primary Prevention
Genetic Counselling
ATS is inherited in an autosomal dominant manner. At least 50% of individuals diagnosed with ATS have anaffected parent. Up to 50% of cases are caused by de novo mutations. Each child of an individual with ATS has a 50% chance of inheriting the disorder. Prenatal diagnosis for pregnancies at increased risk is possible if the disease-causing mutation has been identified in an affected family member.
- Parents of a proband: At least 50% of individuals diagnosed with ATS have an affected parent. A proband with ATS may have the disorder as the result of a de novo gene mutation. The proportion of cases caused by de novo mutations may be as high as 50%. Recommendations for the evaluation of parents of a proband with an apparent de novo mutation include a detailed neurologic and cardiologic evaluation, 12-lead ECG, 24-hour Holter monitoring, and molecular genetic testing for the KCNJ2 mutation identified in the proband.
- Sibs of a proband: The risk to the sibs of the proband depends on the genetic status of the proband's parents. If a parent of the proband is affected and/or has the KCNJ2 mutation identified in the proband, the risk to the sibs of inheriting the mutation is 50%. When the parents are clinically unaffected, the risk to the sibs of a proband appears to be low. If a disease-causing mutation cannot be detected in the DNA extracted from the leukocytes of either parent, two possible explanations are germline mosaicism in a parent or a de novo mutation in the proband. Although no instances of germline mosaicism have been reported, it remains a possibility.
- Offspring of a proband: Each child of an individual with ATS has a 50% chance of inheriting the mutation.
- Other family members of a proband: The risk to other family members depends on the status of the proband's parents. If a parent is affected, his or her family members are at risk.