Genetics of pulmonary hypertension in children with Down Syndrome 

Published by Luke Morais on

Genetics of pulmonary hypertension in children with Down Syndrome 


What is Down Syndrome (DS)?

DS is a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21. This extra genetic material causes the developmental changes and physical features of DS. Children and adults with DS can all be affected differently. But here are some common health concerns: 

  • Heart defects
  • Vision and hearing impairment
  • Respiratory issues
  • Sleep disorders
  • Mental health issues
  • Early onset Alzheimer’s and dementia


What is pulmonary hypertension (PH)?

PH is a type of high blood pressure that affects the arteries in the lungs and the right side of the heart.

PH symptoms include:

  • Shortness of breath
  • Blue or gray skin color
  • Chest pain.
  • Dizziness or fainting spells.
  • Fast pulse or pounding heartbeat.
  • Fatigue

In some people, PH slowly gets worse and can be life-threatening. There’s no cure for PH. But treatments are available to help you feel better, live longer, and improve your quality of life.


How was the study done?

They want to test if DS patients with PH are more likely to have a certain genetic variant than those without PH. They will use DNA from children with DS in BioVU. They will check how often two particular genetic codes occur for people in each group. They will also see if these variants are related to health problems or death in DS patients with and without PH. They will use a special chip that can tell if there is one, two, or three copies of a certain genetic code on chromosome 21, which is the chromosome that has an extra copy in people with DS.


What is the importance of this study?

PH is a serious condition that can cause illness and death in people with DS and people without DS. Researchers know that infants and children with DS are at high risk for developing severe PH as they age, but they don’t fully understand what causes it or what factors make it more likely to happen. This study can help add more information to researchers that can lead to a better understanding of the connection between PH and DS.