Case Study of PH in Heterotaxy Syndrome Patient Hints at More Such Cases to Come

A case report of pulmonary hypertension in a patient with heterotaxy syndrome — a condition where organs in the chest or abdomen are in the wrong position — highlights the need for physicians to be aware of the serious consequences that increased lung blood pressure can have in this patient group.

The study, “Pulmonary Hypertension in a Patient With Congenital Heart Defects and Heterotaxy Syndrome,” published in The Ochsner Journal, also underscored that as corrective heart surgery in patients with heterotaxy syndrome improves and their life spans increase, more such cases may appear.

Heterotaxy syndrome results when the rotation of organs during fetal development is disturbed. Although it is easy to envision such a condition as one where the heart is simply on the wrong side of the body, the syndrome is far more complex, with numerous malformations and, as a result, organs that don’t work properly.

The syndrome commonly involves the lungs, heart, and spleen, and its severity differs between patients with right, and left, forms of the syndrome. Life expectancy in heterotaxy syndrome infants is generally low, with one-year survival estimated at around 15 percent and 50 percent in right- and left-sided syndrome, respectively.

Nearly all infants born with right heterotaxy — the most severe form of the condition —have obstructed lung blood outflow and heart malformations, affecting the movement of blood from the right to the left side of the heart.

Researchers at Advocate Christ Medical Center in Oak Lawn, Illinois, describe a 26-year-old man with heterotaxy syndrome. The man, who was born with multiple heart and blood vessel defects and no spleen, sought care at the hospital because of shortness of breath. He had previously undergone several rounds of corrective surgery, but prior examinations, including one six months earlier, indicated that his lung blood pressure was normal.

This time, however, the echocardiogram (EKG) showed that the pressure in the lung artery was increased, and the right ventricle was somewhat enlarged. Doctors found no obstructions in the outflow from the heart ventricles, and the lung artery was not narrower than normal.

A right heart catheterization confirmed that high pressure in the lung artery, and the patient was given Tracleer (bosentan) to treat the condition.

Only one patient with heterotaxy syndrome and pulmonary hypertension has previously been reported, but the authors noted that as corrective heart surgery becomes better, more infants with heterotaxy syndrome are living into adulthood, and may develop conditions such as pulmonary hypertension.