ENDOVASCULAR MANAGEMENT OF TYPE B ACUTE AORTIC DISSECTION IN NON-SYNDROMIC PATIENTS WITH A FAMILY HISTORY OF AORTIC DISEASE

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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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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Abstract 280: Cocaine-Related Aortic Dissection: Lessons from the International Registry of Acute Aortic Dissection

Circulation Cardiovascular Quality and Outcomes ◽

10.1161/circoutcomes.6.suppl_1.a280 ◽

2013 ◽

Vol 6 (suppl_1) ◽

Author(s):

Joshua H Dean ◽

Patrick O’Gara ◽

Daniel G Montgomery ◽

Santi Trimarchi ◽

Truls Myrmel ◽

...

Keyword(s):

Aortic Dissection ◽

Tobacco Use ◽

Acute Aortic Dissection ◽

Type A ◽

Type B ◽

Cocaine Use ◽

International Registry ◽

Type B Dissection ◽

History Of ◽

Type A Dissection

Background: Acute Aortic Dissection (AAD) associated with cocaine use is a rare event for which only limited case reports and small cohort studies are available. This study compares demographics, history, presenting symptoms and in-hospital outcomes among AAD patients with a history of cocaine use (C+) to those of patients without a history of cocaine use (C-) in a large international registry. Methods: Our study analyzed 3584 patients enrolled in the International Registry of Acute Aortic Dissection from 1996 to 2012. We divided the population based on documented cocaine use and further stratified patients into Type A (33 C+/2332, 1.4%) and Type B (30 C+/1252, 2.4%) dissection cohorts. Results: C+ patients presented at a younger age and were more likely to be male and black for both Type A and B dissections. Type B dissection was more common among C+ patients than in C- patients. Cocaine-related AAD was reported more often at US sites compared to European sites (86.4% 51/63 v. 13.6% 8/63, p<0.001). Tobacco use was more prevalent in the C+ cohort. No differences were seen in history of hypertension, known atherosclerosis or time from symptom onset to presentation between cohorts. Type B C+ patients were more likely to be hypertensive at presentation. Both Type A and Type B C+ cohorts had significantly smaller ascending aortic diameters than C- patients. Acute renal failure was more common in Type A C+ patients but mortality was significantly lower in Type A C+ patients vs type C- patients for reasons than could not be identified from the data base. Conclusions: Cocaine abuse is implicated in approximately 2% of patients with acute aortic dissection. The typical patient is a relatively young male cigarette smoker, who like the majority of patients with AAD, has a history of hypertension. In hospital mortality for cocaine-related Type A dissection is lower than that seen with non-cocaine related type A dissection. The combination of tobacco use, cocaine use, and hypertension may predispose patients to AAD who may otherwise have little risk for the condition.

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Massive Retrograde Acute Type B Aortic Dissection in a Postpartum Woman With a Family History of Marfan Syndrome

Survey of Anesthesiology ◽

10.1097/01.sa.0000318707.00797.f7 ◽

2009 ◽

Vol 53 (2) ◽

pp. 77

Author(s):

&NA;

Keyword(s):

Family History ◽

Aortic Dissection ◽

Marfan Syndrome ◽

Postpartum Woman ◽

Acute Type ◽

Type B ◽

Type B Aortic Dissection ◽

History Of

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Massive retrograde acute type B aortic dissection in a postpartum woman with a family history of Marfan syndrome

Journal of Clinical Anesthesia ◽

10.1016/j.jclinane.2007.06.019 ◽

2008 ◽

Vol 20 (1) ◽

pp. 50-53 ◽

Cited By ~ 15

Author(s):

Sweeta D. Gandhi ◽

Zafar Iqbal ◽

Sandeep Markan ◽

G. Hossein Almassi ◽

Paul S. Pagel

Keyword(s):

Family History ◽

Aortic Dissection ◽

Marfan Syndrome ◽

Postpartum Woman ◽

Acute Type ◽

Type B ◽

Type B Aortic Dissection ◽

History Of

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Family history of aortic dissection is not a risk factor in Marfan syndrome with a FBN1 gene mutation

European Heart Journal ◽

10.1093/eurheartj/ehab724.2009 ◽

2021 ◽

Vol 42 (Supplement_1) ◽

Author(s):

M Tchitchinadze ◽

O Milleron ◽

L Eliahou ◽

S Jadoui ◽

N Ould Ouali ◽

...

Keyword(s):

Risk Factor ◽

Family History ◽

Aortic Dissection ◽

Gene Mutation ◽

Marfan Syndrome ◽

Aortic Surgery ◽

Aortic Disease ◽

Personal Risk ◽

Fbn1 Gene ◽

History Of

Abstract Background A history family of aortic dissection was considered as a risk factor for aortic dissection in patients with Marfan syndrome with a FBN1 mutation. Objectives Evaluate whether a family history of aortic dissection is a risk marker for dissection in this population Methods Retrospective study of patients coming to the reference centre between 1996 and 2018, carrying a FBN1 gene mutation. Pedigrees were obtained for each patient, and familial screening actively pursued. Patients with a family history of aortic dissection were compared with patients without family history of aortic dissection. Results 1700 patients (age 33.2 (±17) years, 51% women) with a FBN1 gene mutation were included. 145 (8,5%) patients underwent aortic dissection at a mean age of 37.9 (±11.4) years and 323 (19%) patients had been operated at 33.8 (±13.9) years. 481 patients had a family history of aortic dissection, including 38 who dissected themselves, and 88 who underwent surgery. 1219 had no family history of aortic dissection, including 107 who dissected themselves, and 235 who underwent surgery. Therefore, the personal risk for aortic dissection was similar in patients with and without a family history of aortic dissection (38/481, i.e. 7.9% vs 107/1219, i.e. 8.8%), as was the personal risk for prophylactic aortic surgery (88/481, i.e. 18.3% vs. 253/1219, i.e. 17.2%), and the risk for either aortic dissection or prophylactic aortic surgery (118/481, i.e. 24.5% vs. 328/1219, i.e. 26.9%). Conclusions In Marfan syndrome with a FBN1 gene mutation, a family history of aortic dissection is not a marker of aortic disease severity. FUNDunding Acknowledgement Type of funding sources: None.

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Complicated Acute Aortic Dissection Type B Caused by Femoral Cannulation for Endoscopic Coronary Artery Bypass Surgery

Journal of Endovascular Therapy ◽

10.1583/1545-1550(2004)011<0080:caadtb>2.0.co;2 ◽

2004 ◽

Vol 11 (1) ◽

pp. 80-83 ◽

Cited By ~ 1

Author(s):

Tatiana Fleck ◽

Wilfried Wisser ◽

Manfred Cejna ◽

Edda Tschernko ◽

Andrea Lassnig ◽

...

Keyword(s):

Coronary Artery ◽

Aortic Dissection ◽

Coronary Artery Bypass ◽

Coronary Artery Bypass Surgery ◽

Bypass Surgery ◽

Acute Aortic Dissection ◽

Artery Bypass ◽

Type B

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Diagnostic markers for discriminating between acute aortic dissection and acute myocardial infarction during the pre-hospital phase: analysis of 3,195 cases

European Heart Journal ◽

10.1093/ehjci/ehaa946.2326 ◽

2020 ◽

Vol 41 (Supplement_2) ◽

Author(s):

K Watanabe ◽

H Yoshino ◽

T Takahashi ◽

M Usui ◽

K Akutsu ◽

...

Keyword(s):

Myocardial Infarction ◽

Acute Myocardial Infarction ◽

Back Pain ◽

Chest Pain ◽

Aortic Dissection ◽

Acute Aortic Dissection ◽

Diagnostic Markers ◽

Network Database ◽

History Of ◽

First Contact

Abstract Both acute aortic dissection (AAD) and acute myocardial infarction (AMI) present with chest pain and are life-threatening diseases that require early diagnosis and treatment for better clinical outcome. However, two critical diseases in the very acute phase are sometimes difficult to differentiate, especially prior to arrival at the hospital for urgent diagnosis and selection of specific treatment. The aim of our study was to clarify the diagnostic markers acquired from the information gathered from medical history taking and physical examination for discriminating AAD from AMI by using data from the Tokyo Cardiovascular Care Unit (CCU) Network database. We examined the clinical features and laboratory data of patients with AAD and AMI who were admitted to the hospital in Tokyo between January 2013 and December 2015 by using the Tokyo CCU Network database. The Tokyo CCU Network consists of >60 hospitals that fulfil certain clinical criteria and receive patients from ambulance units coordinated by the Tokyo Fire Department. Of 15,061 patients diagnosed as having AAD and AMI, 3,195 with chest pain within 2 hours after symptom onset (537 AAD and 2,658 AMI) were examined. The patients with out-of-hospital cardiac arrest were excluded. We compared the clinical data of the patients with chest pain who were diagnosed as having AAD and AMI. The following indicators were more frequent or had higher values among those with AAD: female sex (38% vs. 20%, P<0.001), systolic blood pressures (SBPs) at the time of first contact by the emergency crew (142 mmHg vs. 127 mmHg), back pain in addition to chest pain (54% vs. 5%, P<0.001), history of hypertension (73% vs. 58%, P<0.001), SBP ≥150 mmHg (39% vs. 22%, P<0.001), back pain combined with SBP ≥150 mmHg (23% vs. 0.8%, P<0.001), and back pain with SBP <90 mmHg (4.5% vs. 0.1%, P<0.001). The following data were less frequently observed among those with AAD: diabetes mellitus (7% vs. 28%, P<0.001), dyslipidaemia (17% vs. 42%, P<0.001), and history of smoking (48% vs. 61%, P<0.001). The multivariate regression analysis suggested that back pain with SBP ≥150 mmHg (odds ratio [OR] 47; 95% confidence interval [CI] 28–77; P<0.001), back pain with SBP <90 mmHg (OR 68, 95% CI 16–297, P<0.001), and history of smoking (OR 0.49, 95% CI 0.38–0.63, P<0.001) were the independent markers of AAD. The sensitivity and specificity of back pain with SBPs of ≥150 mmHg and back pain with SBPs <90 mmHg for detecting AAD were 23% and 99%, and 4% and 99%, respectively. In patients with chest pain suspicious of AAD and AMI, “back pain accompanied by chest pain with SBP ≥150 mmHg” or “back pain accompanied by chest pain with SBP <90 mmH” is a reliable diagnostic marker of AAD with high specificity, although the sensitivity was low. The two SBP values with back pain are markers that may be useful for the ambulance crew at their first contact with patients with chest pain. Funding Acknowledgement Type of funding source: None

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