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To the Editor: The review of thoracic aortic aneurysm by Cikach et al1 was excellent. However, we noted that referral for clinical genetic counseling and testing is suggested only if 1 or more first-degree relatives have aneurysmal disease.
Absence of a family history does not rule out syndromic aortopathy, which can occur de novo. In addition, a clinical diagnosis of syndromic aortopathy can be made on the basis of physical features that can be very subtle, such as pectus deformities, scoliosis, dolichostenomelia, joint hypermobility or contractures, craniofacial features, or skin fragility.2
Genetic counseling is paramount even if molecular testing is negative or inconclusive, which can occur in more than 50% of patients referred.3 Clinical genetic evaluation would also facilitate testing for other family members who may be affected, and would help to coordinate care for nonvascular conditions that may be associated with the syndrome.
- Cikach F, Desai MY, Roselli EE, Kalahasti V. Thoracic aortic aneurysm: how to counsel, when to refer. Cleve Clin J Med 2018; 85(6):481–492. doi:10.3949/ccjm.85a.17039
- McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. OMIM. Online mendelian inheritance in man. https://omim.org. Accessed July 31, 2018.
- Mazine A, Moryousef-Abitbol JH, Faghfoury H, Meza JM, Morel C, Ouzounian M. Yield of genetic testing in patients with thoracic aortic disease. J Am Coll Cardiol 2017; 69(11):2005. doi:10.1016/S0735-1097(17)35394-9
To the Editor: The review of thoracic aortic aneurysm by Cikach et al1 was excellent. However, we noted that referral for clinical genetic counseling and testing is suggested only if 1 or more first-degree relatives have aneurysmal disease.
Absence of a family history does not rule out syndromic aortopathy, which can occur de novo. In addition, a clinical diagnosis of syndromic aortopathy can be made on the basis of physical features that can be very subtle, such as pectus deformities, scoliosis, dolichostenomelia, joint hypermobility or contractures, craniofacial features, or skin fragility.2
Genetic counseling is paramount even if molecular testing is negative or inconclusive, which can occur in more than 50% of patients referred.3 Clinical genetic evaluation would also facilitate testing for other family members who may be affected, and would help to coordinate care for nonvascular conditions that may be associated with the syndrome.
To the Editor: The review of thoracic aortic aneurysm by Cikach et al1 was excellent. However, we noted that referral for clinical genetic counseling and testing is suggested only if 1 or more first-degree relatives have aneurysmal disease.
Absence of a family history does not rule out syndromic aortopathy, which can occur de novo. In addition, a clinical diagnosis of syndromic aortopathy can be made on the basis of physical features that can be very subtle, such as pectus deformities, scoliosis, dolichostenomelia, joint hypermobility or contractures, craniofacial features, or skin fragility.2
Genetic counseling is paramount even if molecular testing is negative or inconclusive, which can occur in more than 50% of patients referred.3 Clinical genetic evaluation would also facilitate testing for other family members who may be affected, and would help to coordinate care for nonvascular conditions that may be associated with the syndrome.
- Cikach F, Desai MY, Roselli EE, Kalahasti V. Thoracic aortic aneurysm: how to counsel, when to refer. Cleve Clin J Med 2018; 85(6):481–492. doi:10.3949/ccjm.85a.17039
- McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. OMIM. Online mendelian inheritance in man. https://omim.org. Accessed July 31, 2018.
- Mazine A, Moryousef-Abitbol JH, Faghfoury H, Meza JM, Morel C, Ouzounian M. Yield of genetic testing in patients with thoracic aortic disease. J Am Coll Cardiol 2017; 69(11):2005. doi:10.1016/S0735-1097(17)35394-9
- Cikach F, Desai MY, Roselli EE, Kalahasti V. Thoracic aortic aneurysm: how to counsel, when to refer. Cleve Clin J Med 2018; 85(6):481–492. doi:10.3949/ccjm.85a.17039
- McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University. OMIM. Online mendelian inheritance in man. https://omim.org. Accessed July 31, 2018.
- Mazine A, Moryousef-Abitbol JH, Faghfoury H, Meza JM, Morel C, Ouzounian M. Yield of genetic testing in patients with thoracic aortic disease. J Am Coll Cardiol 2017; 69(11):2005. doi:10.1016/S0735-1097(17)35394-9
