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Are you interested in making an appointment for your child with connective tissue disorder? Contact our team today.
This highly complex condition often calls for serious heart interventions, including heart surgery and pulmonary artery reconstruction (PAR). Other surgeries, such as intestinal repair, may also be needed. When you come to our center for your child’s arterial tortuosity syndrome, you receive across-the-board care from experts for your child’s multiple needs. Our world-renowned heart surgeons, PAR team, and national pediatric transplant teams work together to ensure the best possible health outcome for your child. In addition, our program’s pediatric neurologist is highly skilled at addressing stroke in children with ATS.
Arterial tortuosity syndrome is a genetic disorder caused by mutations in the SLC2A10 gene, which provides instructions for making a vital protein called GLUT10. Without this protein, arteries become elongated, allowing them to twist and turn. Arteries can also become too narrow, which can block blood flow to vital organs such as the heart, lungs, and brain. Arteries can also have abnormal bulges, or cluster just under the skin. ATS ranges from mild to severe.
Children with this rare condition have distinctive facial features, including a long, narrow face; narrow eye openings; droopy cheeks; a beaked nose; and large ears.