# Total pulmonary arterial reconstruction in a patient with arterial tortuosity syndrome affecting the pulmonary artery: a case report and review of the literature

## TL;DR

A 2-year-old child with a rare genetic condition causing abnormal pulmonary arteries underwent successful surgical reconstruction to improve blood flow and reduce heart strain.

## Contribution

This case report highlights successful surgical reconstruction for pulmonary artery stenosis in arterial tortuosity syndrome.

## Key findings

- Surgical repair significantly reduced pulmonary artery pressure gradients from 73 mmHg to 20 mmHg and from 46 mmHg to 20 mmHg.
- Surgical treatment is suggested to provide better outcomes than catheter-based approaches for peripheral arterial involvement in ATS.
- Lung reperfusion injury is a potential complication requiring careful diagnosis and management after surgery.

## Abstract

Arterial tortuosity syndrome is a rare Autosomal recessive disease that leads to a loss of function of the connective tissues of the body, this happens due to a mutation in the solute carrier family 2 member 10 (SLC2A10) gene. ATS is more likely to occur in Large and medium-sized arteries including the aorta and pulmonary arteries. This syndrome causes the arteries to be elongated and tortuous, This tortuosity disturbs the blood circulation resulting in stenosis and lack of blood flow to organs and this chronic turbulent flow increases the risk of aneurysm development, dissection and ischemic events.

A 2 years old Arabian female child was diagnosed with ATS affecting the pulmonary arteries as a newborn, underwent a pulmonary arterial surgical reconstruction at the age of 2 years old due to the development of pulmonary artery stenosis with left pulmonary artery having a peak gradient of 73 mmHg with a peak velocity of 4.3 m/s and the right pulmonary artery having a peak gradient of 46 mmHg with a peak velocity of 3.4 m/s causing right ventricular hypertension. After surgical repair the left pulmonary artery has a peak pressure gradient of 20 mmHg, with the right pulmonary artery having a peak pressure gradient of 20 mmHg.

ATS is a rare genetic condition that affects the great arteries especially the pulmonary arteries causing stenotic and tortuous vessels that may be central branches or distal peripheral branches that leads to severe right ventricular dysfunction and hypertension. We believe that surgical treatment provides the optimum outcomes when compared to transcather approaches especially when the peripheral arteries are involved. Some challenges and hiccups might occur, especially lung reperfusion injury that needs to be diagnosed and treated accordingly.

The online version contains supplementary material available at 10.1186/s13019-024-02905-6.