Hereditary aortic aneurysms and dissections, such as Marfan syndrome, differ in that they occur in younger patients without generally recognized risk factors, have a predilection for the thoracic rather than the abdominal aorta, and are at risk for dissection even at smaller aortic diameters. Early diagnosis, careful follow-up, and early intervention, such as medication to reduce aortic root growth and prophylactic aortic replacement to prevent fatal aortic dissection, are essential for a better prognosis. Molecular genetic testing is extremely useful for early diagnosis. However, in actual clinical practice, the question often arises as to when and to which patient genetic testing should be offered since the outcome of the tests can have important implications for the patient and the relatives. Pre- and post-test genetic counseling is essential for early intervention to be effective. (This article is a secondary translation of Jpn J Vasc Surg 2023; 32: 261-267.).
Keyphrases
- aortic dissection
- aortic valve
- pulmonary artery
- case report
- randomized controlled trial
- risk factors
- end stage renal disease
- left ventricular
- clinical practice
- chronic kidney disease
- ejection fraction
- heart failure
- coronary artery
- healthcare
- pulmonary hypertension
- emergency department
- atrial fibrillation
- peritoneal dialysis
- pulmonary arterial hypertension
- spinal cord injury
- single molecule
- dna methylation
- gene expression
- men who have sex with men
- antiretroviral therapy