Aortopathies: Etiologies, Genetics, Differential Diagnosis, Prognosis and Management

• Published in: The American journal of medicine Vol. 126; no. 8; pp. 670 - 678
• Main Authors: Paterick, Timothy E., MD, JD, Humphries, Julie A., MD, MBBS, BHMS (Ed) (Hons), Ammar, Khawaja Afzal, MD, Jan, M. Fuad, MBBS, MD, Loberg, Rachel, APNP, Bush, Michelle, APNP, Khandheria, Bijoy K., MD, Tajik, A. Jamil, MD
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.08.2013; Elsevier Sequoia S.A
• Subjects: Actins - deficiency; Actins - genetics; Aneurysms; Aortic Aneurysm - diagnosis; Aortic Aneurysm - genetics; Aortic Aneurysm - therapy; Aortic Aneurysm, Thoracic - diagnosis; Aortic Aneurysm, Thoracic - genetics; Aortic Aneurysm, Thoracic - therapy; Aortic Valve - abnormalities; Aortopathy; Arachnodactyly - diagnosis; Arachnodactyly - genetics; Arachnodactyly - therapy; Bentall composite graft; Bicuspid aortic valve; Cardiovascular disease; Contracture - diagnosis; Contracture - genetics; Contracture - therapy; Diagnosis, Differential; Ductus Arteriosus, Patent - diagnosis; Ductus Arteriosus, Patent - genetics; Ductus Arteriosus, Patent - therapy; Echocardiography; Ehlers-Danlos Syndrome - diagnosis; Ehlers-Danlos Syndrome - genetics; Ehlers-Danlos Syndrome - therapy; Familial thoracic aneurysm; Ghent diagnostic criteria; Heart surgery; Heart Valve Diseases - diagnosis; Heart Valve Diseases - genetics; Heart Valve Diseases - therapy; Humans; Internal Medicine; Iris - abnormalities; Livedo Reticularis - diagnosis; Livedo Reticularis - genetics; Livedo Reticularis - therapy; Loeys-Dietz syndrome; Loeys-Dietz Syndrome - diagnosis; Loeys-Dietz Syndrome - genetics; Loeys-Dietz Syndrome - therapy; Marfan syndrome; Marfan Syndrome - diagnosis; Marfan Syndrome - genetics; Marfan Syndrome - therapy; MASS phenotype; Medical diagnosis; Medical prognosis; Mitral Valve Prolapse - diagnosis; Mitral Valve Prolapse - genetics; Mitral Valve Prolapse - therapy; Myopia - diagnosis; Myopia - genetics; Myopia - therapy; Prognosis; Skin Diseases - diagnosis; Skin Diseases - genetics; Skin Diseases - therapy; Bentall composite graft; Ghent diagnostic criteria; Loeys-Dietz syndrome; MASS phenotype; Familial thoracic aneurysm; Bicuspid aortic valve; Aortopathy; Marfan syndrome
• ISSN: 0002-9343; 1555-7162
• DOI: 10.1016/j.amjmed.2013.01.029

Abstract Aortic root and ascending aortic dilatation are indicators associated with risk of aortic dissection, which varies according to underlying etiologic associations, indexed aortic root size, and rate of progression. Typical aortic involvement is most commonly seen in syndromic cases for which there is increasing evidence that aortic aneurysm represents a spectrum of familial inheritance associated with variable genetic penetrance and phenotypic expression. Aortic root and ascending aortic dimensions should be measured routinely with echocardiography. Pharmacologic therapy may reduce the rate of progression. Timing of surgical intervention is guided by indexed aortic size and rate of change of aortic root and ascending aorta dimensions. Lifelong surveillance is recommended.