Genetically Triggered Thoracic Aortic Disease: Who Should be Tested?
Valeria E DuarteRaman YousefzaiMichael N SinghPublished in: Methodist DeBakey cardiovascular journal (2023)
Up to 25% of patients with thoracic aortic disease have an underlying Mendelian pathogenic variant. This is a heterogeneous group of disorders known as heritable thoracic aortic diseases (HTAD). Diagnosing associated pathogenic gene variants and syndromes is critical, as the underlying genetics have an implication in medical management, surveillance, thresholds for surgical intervention, surgical risk, pregnancy risk, and risk of inheritance by the offspring. Recently released 2022 American College of Cardiology/American Heart Association guidelines for the diagnosis and management of aortic diseases provide specific recommendations to identify patients at risk for heritable conditions and who should undergo genetic testing.
Keyphrases
- aortic valve
- left ventricular
- pulmonary artery
- spinal cord
- aortic dissection
- end stage renal disease
- copy number
- randomized controlled trial
- ejection fraction
- healthcare
- newly diagnosed
- clinical practice
- heart failure
- coronary artery
- prognostic factors
- peritoneal dialysis
- pulmonary hypertension
- type diabetes
- pregnant women
- spinal cord injury
- pulmonary arterial hypertension
- gene expression
- skeletal muscle
- acute kidney injury
- metabolic syndrome
- transcription factor
- adipose tissue
- pregnancy outcomes
- patient reported
- thoracic surgery