INFLUENCE OF FAMILY HISTORY OF AORTIC DISEASE ON TYPE B AORTIC DISSECTION

Pregnancy increases aortic wall stress and, for a woman with a chronic dissection, this can lead to extension of the dissection, aortic rupture, and death. We report a pregnancy in a woman with a history of a chronic type B aortic dissection. As a child, she had repeat balloon dilation of aortic coarctation, and one of the procedures was complicated by an iatrogenic dissection at the dilation site. At the age of 27 years, she had a planned pregnancy.

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TCTAP C-059 TEVAR for Chronic Type B Aortic Dissection: A Rare Case with a History of 20 Years

Journal of the American College of Cardiology ◽

10.1016/j.jacc.2017.03.282 ◽

2017 ◽

Vol 69 (16) ◽

pp. S149-S150

Author(s):

Zhi Zheng ◽

You-Min Pan

Keyword(s):

Aortic Dissection ◽

Rare Case ◽

Type B ◽

Type B Aortic Dissection ◽

Chronic Type ◽

History Of

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Clinical implications of identifying pathogenic variants in aortic dissection patients with whole exome sequencing

10.1101/497917 ◽

2018 ◽

Author(s):

Brooke N. Wolford ◽

Whitney E. Hornsby

Keyword(s):

Family History ◽

Aortic Dissection ◽

Exome Sequencing ◽

Whole Exome Sequencing ◽

Family Members ◽

Aortic Disease ◽

Thoracic Aortic Dissection ◽

Pathogenic Variants ◽

Whole Exome ◽

History Of

ABSTRACTBackgroundThoracic aortic dissection is an emergent life-threatening condition. Routine screening for genetic variants causing thoracic aortic dissection is not currently performed for patients or their family members.MethodsWe performed whole exome sequencing of 240 patients with thoracic aortic dissection (n=235) or rupture (n=5) and 258 controls matched for age, sex, and ancestry. Blinded to case-control status, we annotated variants in 11 genes for pathogenicity.ResultsTwenty-four pathogenic variants in 6 genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, TGFBR2) were identified in 26 individuals, representing 10.8% of aortic cases and 0% of controls. Among dissection cases, we compared those with pathogenic variants to those without and found that pathogenic variant carriers had significantly earlier onset of dissection (41 vs. 57 years), higher rates of root aneurysm (54% vs. 30%), less hypertension (15% vs. 57%), lower rates of smoking (19% vs. 45%), and greater incidence of aortic disease in family members. Multivariable logistic regression showed significant risk factors associated with pathogenic variants are age <50 [odds ratio (OR) = 5.5; 95% CI: 1.6-19.7], no history of hypertension (OR=5.6; 95% CI: 1.4-22.3) and family history of aortic disease (mother: OR=5.7; 95% CI: 1.4-22.3, siblings: OR=5.1; 95% CI 1.1-23.9, children: OR=6.0; 95% CI: 1.4-26.7).ConclusionsClinical genetic testing of known hereditary thoracic aortic dissection genes should be considered in patients with aortic dissection, followed by cascade screening of family members, especially in patients with age-of-onset of aortic dissection <50 years old, family history of aortic disease, and no history of hypertension.

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Simple renal cysts and bovine aortic arch: markers for aortic disease

Open Heart ◽

10.1136/openhrt-2018-000862 ◽

2019 ◽

Vol 6 (1) ◽

pp. e000862 ◽

Cited By ~ 4

Author(s):

Adam J Brownstein ◽

Syed Usman Bin Mahmood ◽

Ayman Saeyeldin ◽

Camilo Velasquez Mejia ◽

Mohammad A Zafar ◽

...

Keyword(s):

Aortic Aneurysm ◽

Aortic Dissection ◽

Aortic Arch ◽

Aortic Disease ◽

Type B ◽

Type B Aortic Dissection ◽

Ascending Aortic Aneurysm ◽

Type A Aortic Dissection ◽

Descending Aortic Aneurysm ◽

Bovine Aortic Arch

ObjectiveThis study aimed to assess the prevalence of thoracic aortic disease (TAD) and abdominal aortic aneurysms (AAA) among patients with simple renal cyst (SRC) and bovine aortic arch (BAA).MethodsThrough a retrospective search for patients who underwent both chest and abdominal CT imaging at our institution from 2012 to 2016, we identified patients with SRC and BAA and propensity score matched them to those without these features by age, gender and presence of hypertension, hyperlipidaemia, diabetes and chronic kidney disease.ResultsOf a total of 35 498 patients, 6366 were found to have SRC. Compared with the matched population without SRC, individuals with SRC were significantly more likely to have TAD (10.1% vs 3.9%), ascending aortic aneurysm (8.0% vs 3.2%), descending aortic aneurysm (3.3% vs 0.9%), type A aortic dissection (0.6% vs 0.2%), type B aortic dissection (1.1% vs 0.3%) and AAA (7.9% vs 3.3%). The 920 patients identified with BAA were significantly more likely to have TAD (21.8% vs 4.5%), ascending aortic aneurysm (18.4% vs 3.2%), descending aortic aneurysm (6.5% vs 2.0%), type A aortic dissection (1.4% vs 0.4%) and type B aortic dissection (2.4% vs 0.7%) than the matched population without BAA. SRC and BAA were found to be significantly associated with the presence of TAD (OR=2.57 and 7.69, respectively) and AAA (OR=2.81 and 2.56, respectively) on multivariable analysis.ConclusionsThis study establishes a substantial increased prevalence of aortic disease among patients with SRC and BAA. SRC and BAA should be considered markers for aortic aneurysm development.

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D-dimer serum levels in a case of type B aortic dissection. A rapid test for the early diagnosis of acute aortic disease?

Journal of Cardiovascular Medicine ◽

10.2459/01.jcm.0000215276.62767.c6 ◽

2006 ◽

Vol 7 (3) ◽

pp. 216-218 ◽

Cited By ~ 4

Author(s):

Antonio DʼAloia ◽

Pompilio Faggiano ◽

Loretta Brentana ◽

Livio Dei Cas

Keyword(s):

Early Diagnosis ◽

Aortic Dissection ◽

Rapid Test ◽

Serum Levels ◽

Aortic Disease ◽

Type B ◽

Type B Aortic Dissection ◽

Acute Aortic Disease ◽

D Dimer

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Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection

Circulation Genomic and Precision Medicine ◽

10.1161/circgen.118.002476 ◽

2019 ◽

Vol 12 (6) ◽

Cited By ~ 10

Author(s):

Brooke N. Wolford ◽

Whitney E. Hornsby ◽

Dongchuan Guo ◽

Wei Zhou ◽

Maoxuan Lin ◽

...

Keyword(s):

Family History ◽

Aortic Dissection ◽

Age Of Onset ◽

Family Members ◽

Aortic Disease ◽

Pathogenic Variant ◽

Carrier Status ◽

Thoracic Aortic Dissection ◽

Pathogenic Variants ◽

History Of

Background: Thoracic aortic dissection is an emergent life-threatening condition. Routine screening for genetic variants causing thoracic aortic dissection is not currently performed for patients or family members. Methods: We performed whole exome sequencing of 240 patients with thoracic aortic dissection (n=235) or rupture (n=5) and 258 controls matched for age, sex, and ancestry. Blinded to case-control status, we annotated variants in 11 genes for pathogenicity. Results: Twenty-four pathogenic variants in 6 genes (COL3A1, FBN1, LOX, PRKG1, SMAD3, and TGFBR2) were identified in 26 individuals, representing 10.8% of aortic cases and 0% of controls. Among dissection cases, we compared those with pathogenic variants to those without and found that pathogenic variant carriers had significantly earlier onset of dissection (41 versus 57 years), higher rates of root aneurysm (54% versus 30%), less hypertension (15% versus 57%), lower rates of smoking (19% versus 45%), and greater incidence of aortic disease in family members. Multivariable logistic regression showed that pathogenic variant carrier status was significantly associated with age <50 (odds ratio [OR], 5.5; 95% CI, 1.6–19.7), no history of hypertension (OR, 5.6; 95% CI, 1.4–22.3), and family history of aortic disease (mother: OR, 5.7; 95% CI, 1.4–22.3, siblings: OR, 5.1; 95% CI, 1.1–23.9, children: OR, 6.0; 95% CI, 1.4–26.7). Conclusions: Clinical genetic testing of known hereditary thoracic aortic dissection genes should be considered in patients with a thoracic aortic dissection, followed by cascade screening of family members, especially in patients with age-of-onset <50 years, family history of thoracic aortic disease, and no history of hypertension.

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