Arterial tortuosity syndrome
ICD-10 Q87.82 is a billable code used to indicate a diagnosis of arterial tortuosity syndrome.
Arterial tortuosity syndrome (ATS) is a rare genetic disorder characterized by the abnormal twisting and elongation of arteries, leading to various cardiovascular complications. This condition is often associated with other congenital malformations, including skeletal abnormalities, skin lesions, and connective tissue disorders. Patients may present with symptoms such as arterial aneurysms, vascular stenosis, and increased risk of arterial rupture. The syndrome is typically inherited in an autosomal dominant pattern and is linked to mutations in the SLC2A10 gene. Diagnosis is primarily clinical, supported by imaging studies that reveal the characteristic arterial tortuosity. Management focuses on monitoring cardiovascular health and addressing any complications that arise. Due to its rarity and the complexity of associated conditions, accurate coding is essential for proper patient management and research purposes.
Detailed pediatric history, including prenatal and perinatal factors, growth and development milestones, and family history of congenital conditions.
Pediatric patients presenting with unexplained cardiovascular symptoms, requiring evaluation for congenital heart disease or vascular anomalies.
Consideration of age-related manifestations of arterial tortuosity and associated conditions in pediatric patients.
Genetic testing results, family pedigree, and detailed clinical history to support the diagnosis of ATS and any associated genetic syndromes.
Patients undergoing genetic counseling for familial risk assessment and management of congenital malformations.
Understanding the genetic basis of ATS and its implications for family members.
Used for follow-up visits in patients with ATS to monitor cardiovascular health.
Document history, examination findings, and any changes in management.
Pediatricians should focus on growth and development assessments.
Common associated conditions include skeletal abnormalities, connective tissue disorders, and other congenital malformations. Accurate documentation of these conditions is essential for proper coding.
