Fatal Aortic Dissection in a Patient With a Family History of Marfan Syndrome

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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Clinical significance of family history and bicuspid aortic valve in children and young adult patients with Marfan syndrome

Cardiology in the Young ◽

10.1017/s1047951120000748 ◽

2020 ◽

Vol 30 (5) ◽

pp. 663-667 ◽

Cited By ~ 1

Author(s):

Emanuele Monda ◽

Adelaide Fusco ◽

Daniela Melis ◽

Martina Caiazza ◽

Felice Gragnano ◽

...

Keyword(s):

Young Adult ◽

Family History ◽

Aortic Valve ◽

Marfan Syndrome ◽

Bicuspid Aortic Valve ◽

Young Patients ◽

P Value ◽

Z Score ◽

Aortic Sinus ◽

History Of

AbstractBackground:Marfan syndrome is an autosomal dominant disorder of the connective tissue, whose cardinal features affect eyes, musculoskeletal, and cardiovascular system. Despite prevalence and natural history of cardiovascular manifestation are well known in adults, little is known about children and young adult patients. The aim of this study was to describe a well-characterised cohort of consecutive children and young patients with marfan syndrome, looking at the impact of family history and presence of bicuspid aortic valve on disease severity.Methods:A total of 30 consecutive children and young patients with Marfan syndrome were evaluated. All patients underwent a comprehensive clinical–instrumental–genetic evaluation. Particular attention was posed to identify differences in prevalence of cardiovascular abnormalities between patients with and without family history of Marfan syndrome or bicuspid aortic valve.Results:Of these 30 patients, family history of Marfan syndrome and bicuspid aortic valve were present in 76 and 13%, respectively. Compared to patients with family history of Marfan syndrome, those without showed higher prevalence of aortic sinus dilation (87 versus 32%, p-value = 0.009), greater aortic sinus diameters (4.2 ± 2.1 versus 1.9 ± 1.1 z score, p-value = 0.002), and higher rate of aortic surgery during follow-up (37 versus 0%, p-value = 0.002). Compared to patients with tricuspid aortic valve, those with bicuspid aortic valve were younger (3.2 ± 4.3 versus 10.7 ± 6.8 years old, p-value = 0.043), showed greater aortic sinus diameters (4.2 ± 0.9 versus 2.2 ± 1.6 z score, p-value = 0.033), and underwent more frequently aortic root replacement (50 versus 4%, p-value = 0.004).Conclusions:In our cohort of patients with Marfan syndrome, the absence of family history and the presence of bicuspid aortic valve were associated to severe aortic phenotype and worse prognosis.

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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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Spontaneous Aortic Dissecting Hematoma in Two Dogs

Journal of Veterinary Diagnostic Investigation ◽

10.1177/104063870501700518 ◽

2005 ◽

Vol 17 (5) ◽

pp. 492-497 ◽

Cited By ~ 12

Author(s):

Theresa Marie Boulineau ◽

Lydia Andrews-Jones ◽

William Van Alstine

Keyword(s):

Aortic Dissection ◽

Marfan Syndrome ◽

Pericardial Tamponade ◽

Ascending Aorta ◽

Thoracic Cavity ◽

Mediastinal Hematoma ◽

Intimal Proliferation ◽

First Case ◽

History Of ◽

Gross Lesions

This report describes 2 cases of spontaneous aortic dissecting hematoma in young Border Collie and Border Collie crossbred dogs. Histology was performed in one of the cases involving an unusual splitting of the elastin present within the wall of the aorta, consistent with elastin dysplasia as described in Marfan syndrome in humans. The first case involved a young purebred Border Collie that died suddenly and the second case involved a Border Collie crossbred dog that died after a 1-month history of seizures. Gross lesions included pericardial tamponade with dissection of the ascending aorta in the former case and thoracic cavity hemorrhage, mediastinal hematoma, and aortic dissection in the latter. Histologic lesions in the case of the Border Collie crossbred dog included a dissecting hematoma of the ascending aorta with elastin dysplasia and right axillary arterial intimal proliferation.

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Family History of Severe Cardiovascular Disease in Marfan Syndrome is Associated with Increased Aortic Diameter and Decreased Survival

Journal of Diagnostic Medical Sonography ◽

10.1177/875647939601200320 ◽

1996 ◽

Vol 12 (3) ◽

pp. 155-156

Keyword(s):

Cardiovascular Disease ◽

Family History ◽

Marfan Syndrome ◽

Aortic Diameter ◽

History Of

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Family history of severe cardiovascular disease in Marfan syndrome is associated with increased aortic diameter and decreased survival

Journal of the American College of Cardiology ◽

10.1016/0735-1097(95)00258-0 ◽

1995 ◽

Vol 26 (4) ◽

pp. 1062-1067 ◽

Cited By ~ 60

Author(s):

David I. Silverman ◽

Jonathon Gray ◽

Mary J. Roman ◽

Allan Bridges ◽

Kevin Burton ◽

...

Keyword(s):

Cardiovascular Disease ◽

Family History ◽

Marfan Syndrome ◽

Aortic Diameter ◽

History Of

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Rare complication of a type IV paraoesophageal hiatal hernia in a Marfan syndrome patient

BMJ Case Reports ◽

10.1136/bcr-2020-239641 ◽

2021 ◽

Vol 14 (4) ◽

pp. e239641

Author(s):

Lachlan Hou ◽

Sunita Dhanda ◽

Dan Xu

Keyword(s):

Aortic Dissection ◽

Hiatal Hernia ◽

Marfan Syndrome ◽

Rare Complication ◽

Left Lung ◽

Lower Lobe ◽

Type Iv ◽

History Of ◽

Medical Histories ◽

Long Term Prognosis

A 77-year-old female patient with Marfan syndrome presented with a 1-week history of worsening malaise and poor appetite. This was associated with a dramatic unintentional loss of weight as well as shortness of breath worsened by exertion. She has significant medical histories of a hiatal hernia and chronic type B aortic dissection. CT scan of the chest was able to confirm a type IV paraoesophageal hiatal hernia compressing on the lower lobe of her left lung without any progression of her aortic dissection. As surgical intervention was contraindicated in light of her advanced age and comorbidities, she was managed conservatively with a clinically satisfied outcome in the short term. Her long-term prognosis, however, is still poor with a high mortality of 1 and 5 years.

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