Nonsyndromic genetic predisposition to aortic dissection: a newly recognized, diagnosable, and preventable occurrence in families.
The major diseases affecting the aorta are aortic aneurysms and dissections, with patients with acute dissections often presenting in the emergency department (ED). Recent studies demonstrate a strong genetic predisposition to thoracic aortic aneurysms and dissections, independent of syndromes traditionally considered to predispose to aortic disease (such as Marfan syndrome). Nonsyndromic familial thoracic aortic aneurysms and dissections are inherited in families as an autosomal dominant disorder and a variable age of onset of the aortic disease. The case reported here illustrates the critical importance of obtaining a family history of thoracic aortic aneurysms and dissections, along with unexplained sudden death, when assessing an individual with chest pain in the ED, regardless of age and in the absence of a known genetic syndrome.
Hasham
Sumera N
SN
Division of Medical Genetics, Department of Internal Medicine, University of Texas Medical School at Houston, Houston, TX, USA.
Lewin
Matthew R
MR
Tran
Van T
VT
Pannu
Hariyadarshi
H
Muilenburg
Ann
A
Willing
Marcia
M
Milewicz
Dianna M
DM
D000328:Adult; D000368:Aged; D000784:Aortic Dissection / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D017545:Aortic Aneurysm, Thoracic / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D002637:Chest Pain / Q000175:diagnosis / Q000453:epidemiology; D002874:Chromosome Mapping; D003937:Diagnosis, Differential; D004635:Emergency Medicine / Q000379:methods; D004636:Emergency Service, Hospital; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D008297:Male; D008487:Medical History Taking; D010375:Pedigree