Identifying Genetic Origins of Pulmonary Arterial Hypertension in Children

According to a study on the Wiley Online Library, the genetic factors in pediatric cases of pulmonary arterial hypertension (PAH) are distinct from those of adults. In addition, genetics tends to play a greater role in the appearance of the disease in children, as many adults acquire the condition through exposure to potential risk factors. The study, titled “Genes That Drive the Pathobiology of Pediatric Pulmonary Arterial Hypertension” set out to identify the genes that were most often linked to the disease in kids.

About Pulmonary Arterial Hypertension

Pulmonary arterial hypertension is a condition in which the blood pressure in the arteries of the lungs is abnormally high. The cause of pulmonary arterial hypertension is often unknown in many cases. However, there are a variety of potential causes, such as certain heritable genetic mutations, exposure to certain toxins, and drug use (ex. methamphetamine). It can also appear as a symptom or complication in a number of other diseases, such as heart disease, connective tissue disease, and infection with HIV. The arteries in the lungs are often inflamed. Symptoms of this condition include rapid heartbeat, poor exercise tolerance, shortness of breath, fainting, leg swelling, fatigue, and chest pain. Treatment may include a number of medications and surgical operations, including lung transplant. A transplant can cure the condition, but it can cause many complications. Survival rate is often only about two or three years without treatment, but the latest drugs can prolong life by several years or more. Click here to learn more about pulmonary arterial hypertension.

Study Findings

Genes contribute to idiopathic cases of the illness in 35 percent of pediatric cases versus 11 percent of adult cases. Many of these mutations are not inherited and instead appear while the embryo is developing. Mutations of the BMPR2 gene have been implicated in both adult and child cases, but certain missense mutations have been linked to earlier disease onset. Mutations of the TBX4 gene is more common in child cases, and it is implicated in around 8 percent of them.

Another factor to consider is pulmonary arterial hypertension that is linked to other disorders, such as congenital heart defects. The SOX17 gene is known to contribute to these defects and also sometimes is linked to lung hypertension. 

Ultimately, it is clear that there are enough differences in the genetic profiles of adult and child cases that genetic data using adult patients cannot be said to apply to children with the illness. Further study specifically of pediatric patients is critical to understand other differences in disease presentation and treatment response.

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