What type of mutation is Holt-Oram syndrome?

Holt-Oram syndrome is an autosomal dominant genetic condition that is associated with a change (mutation) in the TBX5 gene. While this mutation can be inherited, most cases result from a new mutation in patients without a family history of the disorder.

How do you diagnose Brugada syndrome?

It’s rarely diagnosed in young children because the symptoms are often unnoticed. To diagnose Brugada syndrome, your doctor will perform a physical exam and listen to your heart with a stethoscope. Tests are done to check your heart beat and diagnose or confirm Brugada syndrome.

How long can you live with a VSD?

Unfortunately, most people with a moderate or large VSD — even one that’s repaired —are more likely to have a lower life expectancy, especially if the VSD was not repaired early. For people who have a VSD that isn’t repaired, about 87% of them will be alive 25 years after their diagnosis.

How common is VSD in babies?

Ventricular septal defects are among the most common congenital heart defects, occurring in 0.1 to 0.4 percent of all live births and making up about 20 to 30 percent of congenital heart lesions. Ventricular septal defects are probably one of the most common reasons for infants to see a cardiologist.

How does Ebstein’s anomaly lead to a small right ventricular chamber?

In Ebstein anomaly, the tricuspid valve sits lower than normal in the right ventricle. This makes it so that a portion of the right ventricle becomes part of the right atrium, causing the right atrium to enlarge and not work properly. Also, the tricuspid valve’s leaflets are abnormally formed.

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