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. 2013 Jul 2;128(1):e4-8.
doi: 10.1161/CIRCULATIONAHA.113.002252.

Genetic testing for inherited heart disease

Allison L Cirino  1 , Carolyn Y Ho
Affiliations

Genetic testing for inherited heart disease

Allison L Cirino et al. Circulation. .
No abstract available

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Figures

Figure 1
Figure 1. Autosomal dominant inheritance
Parent 1 has an autosomal dominant condition. The patterned shape represents the copy of the gene with the disease-causing mutation. There is a 50% chance that each child will inherit this copy of the gene. In this example, Child 1 and Child 3 both inherited the copy with the mutation from Parent 1 and are therefore at risk for developing the condition.
Figure 2
Figure 2. Pedigree
A pedigree is a family tree. Squares indicate males and circles indicate females. Darkened symbols indicate people who have the family's disease. The arrowhead indicates the proband-- the person who is being evaluated for an inherited heart disease. His family members are also at risk to develop the condition. The arrows point to his first-degree family members (children, siblings, parents) who need periodic clinical evaluation.
Figure 3
Figure 3. Cascade Family Screening
The circled shapes show family members from Figure 2 whose symbols are now darkened because they were diagnosed with heart disease in the process of family screening. The arrows point to the first-degree family members of all affected individuals. These immediate family members need to be examined periodically since they are at risk for developing the family's heart condition.
Figure 4
Figure 4. Predictive genetic testing
This figure shows the genetic testing results for this family. The proband (arrowhead) was found to have a disease-causing mutation and many of his at-risk family members underwent predictive genetic testing. Plus signs show family members who tested positive for the pathogenic mutation and minus signs show family members who tested negative for the pathogenic mutation. In this family the mutation segregates as expected with disease, meaning that all individuals with a diagnosis of heart disease also have the mutation. The proband's daughter is an example of someone who has inherited the risk to develop heart disease but currently appears healthy and cannot yet be diagnosed with the condition.
See this image and copyright information in PMC

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