Diagnosis of Heart-Related Syndromes

What is a syndrome?

Father kissing infant
A syndrome is a medical term for a collection of signs and symptoms that generally stem from a single cause and, together, point to a diagnosis. Children may have some signs and not others, but to be diagnosed with a syndrome they would need to have a certain number of signs. However a child could have some of the signs and symptoms and not have a syndrome.

Syndromes are genetic conditions, meaning that they involve a gene or chromosome mutation. Some of these are hereditary, but most are spontaneous.

Geneticists can help confirm a diagnosis of a syndrome, while genetic counsellors can provide information about syndromes.

For more information, please see the section on  Genetics & Heart Conditions. 

What are heart-related syndromes?

Heart-related syndromes are genetic conditions that, in addition to affecting other parts of the body, can also affect the heart. They include the following syndromes:

  • 22q11 deletion syndrome
  • Down syndrome
  • Marfan syndrome
  • Noonan syndrome
  • Turner syndrome
  • Williams syndrome

For more information, please speak to your doctor and consider contacting local support groups for the different syndromes. Some suggestions include the Canadian Marfan Association, the Canadian Down Syndrome Society, and the Turner's Syndrome Society.

Fraser Golding, MD, FRCPC