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
- pulmonary artery
- left ventricular
- spinal cord
- aortic dissection
- randomized controlled trial
- copy number
- heart failure
- end stage renal disease
- newly diagnosed
- public health
- healthcare
- ejection fraction
- prognostic factors
- high fat diet
- coronary artery
- type diabetes
- genome wide
- cardiac surgery
- acute kidney injury
- gene expression
- preterm birth
- adipose tissue
- metabolic syndrome
- patient reported outcomes
- pulmonary hypertension
- dna methylation
- skeletal muscle
- patient reported
- insulin resistance