Genetic diseases of the aorta: aortic diseases related to Marfan syndrome and other genetic abnormalities

ESC CardioMed ◽  
2018 ◽  
pp. 2611-2613
Author(s):  
Bernard Iung
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Bicuspid Aortic Valve ◽  
Aortic Surgery ◽  
Genetic Diseases ◽  
Rapid Progression ◽  
Aortic Diseases ◽  
Genetic Abnormalities ◽  
History Of ◽  
Associated Risk Factors

Bicuspid aortic valve affects 1–2% of babies at birth and is frequently associated with thoracic aortic aneurysm but the risk of aortic dissection is low. Indications for aortic surgery are based on studies on natural history. Aortic surgery is recommended when the maximum aortic diameter is greater than 55 mm in patients with a bicuspid aortic valve. Intervention is indicated at an earlier stage when there are associated risk factors, in particular familial history of aortic dissection or rapid progression, or if there is an indication for aortic valve replacement. The choice between partial or total replacement of the aorta should be based on anatomy, but also take into account the patient’s age and operative risk.

Genetic diseases of the aorta: aortic diseases related to Marfan syndrome and other genetic abnormalities

ESC CardioMed ◽  
2018 ◽  
pp. 2611-2613
Author(s):  
Bernard Iung
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Bicuspid Aortic Valve ◽  
Aortic Surgery ◽  
Genetic Diseases ◽  
Rapid Progression ◽  
Aortic Diseases ◽  
Genetic Abnormalities ◽  
History Of ◽  
Associated Risk Factors

Bicuspid aortic valve affects 1–2% of babies at birth and is frequently associated with thoracic aortic aneurysm but the risk of aortic dissection is low. Indications for aortic surgery are based on studies on natural history. Aortic surgery is recommended when the maximum aortic diameter is greater than 55 mm in patients with a bicuspid aortic valve. Intervention is indicated at an earlier stage when there are associated risk factors, in particular familial history of aortic dissection or rapid progression, or if there is an indication for aortic valve replacement. The choice between partial or total replacement of the aorta should be based on anatomy, but also take into account the patient’s age and operative risk.

scholarly journals Ascending aortic dissection in a pregnant patient with neonatally repaired coarctation of aorta and bicuspid aortic valve

2019 ◽  
Vol 12 (12) ◽  
pp. e233367
Author(s):  
Mark Philip Cassar ◽  
Asad Shabbir ◽  
Elizabeth Orchard ◽  
James Stirrup
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Bicuspid Aortic Valve ◽  
Aortic Surgery ◽  
Pregnant Patient ◽  
Haemodynamic Instability ◽  
Coarctation Of Aorta ◽  
Blurred Vision ◽  
Life Threatening ◽  
History Of

Aortic dissection is characterised by a tear in the intimal and medial layers of the endovascular aortic wall which propagates distally. Here, we discuss the case of a 35-year-old woman who was 37 weeks pregnant and presented with dizziness and blurred vision. She had a history of a neonatal end-to-end repair of a coarctation of aorta, a known bicuspid aortic valve and a dilated ascending aorta under surveillance. A transthoracic echocardiogram revealed an ascending aortic dissection. An emergency CT aortogram was performed which confirmed the diagnosis. The patient underwent emergency caesarean section and aortic surgery, with a good outcome for mother and baby. The case highlights the atypical nature of presentation and the absence of haemodynamic instability. Atypical and unexplained symptoms on a background of congenital heart disease should trigger a referral to cardiology with thorough investigation, often with echocardiography, to exclude rare and life-threatening complications.

Aortic diseases

ESC CardioMed ◽  
2018 ◽  
pp. 2861-2863
Author(s):  
Bernard Iung
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Marfan Syndrome ◽  
Bicuspid Aortic Valve ◽  
Young Women ◽  
Beta Blockers ◽  
Aortic Aneurysms ◽  
Maximum Diameter ◽  
Aortic Diseases

Aortic diseases encountered in young women are mainly associated with syndromic diseases, which are often heritable, or bicuspid aortic valve. The most frequent syndromic disease is Marfan syndrome. In Marfan syndrome, the risk of aortic dissection is low during pregnancy when the maximum diameter of the ascending aorta is less than 45 mm. Dissection may affect the thoracic ascending or descending aorta. The risk of aortic dissection is low in bicuspid aortic valve when the aortic diameter is less than 50 mm. Beta blockers are recommended throughout pregnancy in Marfan syndrome and are often used in other causes of aortic aneurysms. Close echocardiographic follow-up is needed during pregnancy and after delivery.

Aortic diseases

ESC CardioMed ◽  
2018 ◽  
pp. 2861-2863
Author(s):  
Bernard Iung
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Marfan Syndrome ◽  
Bicuspid Aortic Valve ◽  
Young Women ◽  
Beta Blockers ◽  
Aortic Aneurysms ◽  
Maximum Diameter ◽  
Aortic Diseases

Aortic diseases encountered in young women are mainly associated with syndromic diseases, which are often heritable, or bicuspid aortic valve. The most frequent syndromic disease is Marfan syndrome. In Marfan syndrome, the risk of aortic dissection is low during pregnancy when the maximum diameter of the ascending aorta is less than 45 mm. Dissection may affect the thoracic ascending or descending aorta. The risk of aortic dissection is low in bicuspid aortic valve when the aortic diameter is less than 50 mm. Beta blockers are recommended throughout pregnancy in Marfan syndrome and are often used in other causes of aortic aneurysms. Close echocardiographic follow-up is needed during pregnancy and after delivery.

scholarly journals When should a rare inherited connective tissue disorder be suspected in bicuspid aortic valve by primary-care internists and cardiologists? Proposal of a score

2020 ◽  
Author(s):  
Guglielmina Pepe ◽  
Betti Giusti ◽  
Stefania Colonna ◽  
Maria Pia Fugazzaro ◽  
Elena Sticchi ◽  
...  
Keyword(s):  
Primary Care ◽  
Aortic Valve ◽  
Connective Tissue ◽  
Bicuspid Aortic Valve ◽  
Aortic Surgery ◽  
Connective Tissue Disorder ◽  
Tertiary Center ◽  
History Of ◽  
Selected Traits ◽  
Size Threshold

Abstract Size threshold for aortic surgery in bicuspid aortic valve (BAV) is debated. Connective tissue disorders (CTDs) are claimed as a clinical turning point, suggesting early surgery in BAV patients with CTD. Thus, we aimed at developing a score to detect high risk of carrying CTDs in consecutive BAVs from primary care. Ninety-eight BAVs without ectopia lentis or personal/family history of aortic dissection were studied at the Marfan syndrome Tuscany Referral Center. Findings were compared with those detected in 84 Marfan patients matched for sex and age. We selected traits with high statistical difference between MFS and BAV easily obtainable by cardiologists and primary-care internists: mitral valve prolapse, myopia ≥ 3DO, pectus carenatum, pes planus, wrist and thumb signs, and difference between aortic size at root and ascending aorta ≥ 4 mm. Clustering of ≥ 3 of these manifestations were more frequent in Marfan patients than in BAVs (71.4% vs 6.1%, p < 0.0001) resulting into an Odds Ratio to be affected by MFS of 38.3 (95% confidence intervals 14.8–99.3, p < 0.0001). We propose a score assembling simple clinical and echocardiographic variables resulting in an appropriate referral pattern of BAVs from a primary-care setting to a tertiary center to evaluate the presence of a potential, major CTD.

scholarly journals Differences in Aortopathy in Patients with a Bicuspid Aortic Valve with or without Aortic Coarctation

2020 ◽  
Vol 9 (2) ◽  
pp. 290
Author(s):  
Anthonie Duijnhouwer ◽  
Allard van den Hoven ◽  
Remy Merkx ◽  
Michiel Schokking ◽  
Roland van Kimmenade ◽  
...  
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Bicuspid Aortic Valve ◽  
Aortic Coarctation ◽  
Care Center ◽  
Aortic Surgery ◽  
Tertiary Care ◽  
Aortic Diameter ◽  
Aortic Dilatation ◽  
Significant Difference

Objective: The combination of aortic coarctation (CoA) and bicuspid aortic valve (BAV) is assumed to be associated with a higher risk of ascending aortic dilatation and type A dissection, and current European Society of Cardiology (ESC) guidelines advise therefore to operate at a lower threshold in the presence of CoA. The aim of our study is to evaluate whether the coexistence of CoA in BAV patients is indeed associated with a higher risk of ascending aortic events (AAE). Methods: In a retrospective study, all adult BAV patients visiting the outpatient clinic of our tertiary care center between February 2003 and February 2019 were included. The primary end point was an ascending aortic event (AAE) defined as ascending aortic dissection/rupture or preventive surgery. The secondary end points were aortic dilatation and aortic growth. Results: In total, 499 BAV patients (43.7% female, age 40.3 ± 15.7 years) were included, of which 121 (24%) had a history of CoA (cBAV). An aortic event occurred in 38 (7.6%) patients at a mean age of 49.0 ± 13.6 years. In the isolated BAV group (iBAV), significantly more AAE occurred, but this was mainly driven by aortic valve dysfunction as indication for aortic surgery. There was no significant difference in the occurrence of dissection or severely dilated ascending aorta (>50 mm) between the iBAV and cBAV patients (p = 0.56). The aortic diameter was significantly smaller in the cBAV group (30.3 ± 6.9 mm versus 35.7 ± 7.6 mm; p < 0.001). The median aortic diameter increase was 0.23 (interquartile range (IQR): 0.0–0.67) mm/year and was not significantly different between both groups (p = 0.74). Conclusion: Coexistence of CoA in BAV patients was not associated with a higher risk of aortic dissection, preventive aortic surgery, aortic dilatation, or more rapid aorta growth. This study suggests that CoA is not a risk factor in BAV patients, and the advice to operate at lower diameter should be reevaluated.

scholarly journals Bicuspid aortic valve: different clinical profiles for subjects with versus without repaired aortic coarctation

Open Heart ◽  
2020 ◽  
Vol 7 (2) ◽  
pp. e001429
Author(s):  
Michelle S Lim ◽  
Paul G Bannon ◽  
David S Celermajer
Keyword(s):  
Aortic Valve ◽  
Aortic Regurgitation ◽  
Bicuspid Aortic Valve ◽  
Aortic Coarctation ◽  
Aortic Surgery ◽  
Valve Surgery ◽  
Prior History ◽  
Phenotypic Differences ◽  
Group Type ◽  
History Of

ObjectivesA small proportion of patients undergoing bicuspid aortic valve (BAV) intervention have had prior repair of aortic coarctation (CoA). We aimed to describe phenotypic differences between BAV patients, comparing those with versus those without previous coarctation repair.Methods556 adults with BAV who had undergone aortic valve and/or ascending aortic surgery were identified, and relevant clinical and operative details were retrospectively analysed.ResultsOf the total cohort, 532 patients (95.7%) had isolated BAV (‘BAV-only’), and 24 (4.3%) had had a previous successful CoA repair (‘BAV-CoA’). The median age at surgery was significantly lower in BAV-CoA patients compared with BAV-only (median, IQR: 40 years, 26–57 vs 62 years, 51–69, p<0.001). Indications for surgery also differed, with BAV-CoA patients much more likely to undergo surgery for aortic regurgitation (BAV-CoA 38% vs BAV-only 13%, p<0.001); patients with isolated BAV were more likely to require surgery for aortic stenosis (BAV-only 75% vs BAV-CoA 50%, p<0.001). Two different BAV morphotypes were commoner in the BAV-CoA group; type 0 valves (24% vs 8%, p<0.05) and type 2 valves (12% vs 3%, p<0.05). The proportion of patients undergoing concomitant aortic surgery at the time of valve surgery were similar (BAV-only 38% vs BAV-CoA 42%, p=0.8).ConclusionIn adult patients undergoing aortic valve surgery for BAV disease, those with a prior history of repaired CoA underwent surgery at a very much younger age, and a higher proportion required intervention for aortic regurgitation.

scholarly journals History of reconstructive surgery of aorta and aortic valve

2017 ◽  
Vol 21 (3S) ◽  
pp. 45 ◽  
Author(s):  
R. N. Komarov ◽  
P. A. Karavaykin ◽  
V. V. Murylev
Keyword(s):  
Aortic Valve ◽  
Reconstructive Surgery ◽  
Cardiovascular Surgery ◽  
Aortic Surgery ◽  
Aneurysm Surgery ◽  
Aortic Diseases ◽  
History Of ◽  
Aortic Aneurysm Surgery ◽  
First Time ◽  
Valve Lesions

<p>Surgery of the aorta remains the most difficult and most dynamic part of cardiovascular surgery. Aortic aneurysm surgery had passed through several stages: from non-reconstructive, when the improvised tools were used to decrease the risk of aorta-related complications, to endovascular one. Aortic valve surgery being the essential part of aortic surgery developed dramatically as well. However, open procedures still remain the gold standard for aortic surgery. Visceral protection methods and devices develop.The review follows main achievements for reconstructive surgery of aortic diseases and aortic valve lesions. It elucidates only vital and successful procedures performed by outstanding specialists for the first time. Moreover, the contribution of Soviet and Russian surgeons is shown.</p><p>Received 11 July 2017. Accepted 21 July 2017.</p><p><strong>Funding:</strong> The study did not have sponsorship.<br /><strong>Conflict of interest:</strong> The authors declare no conflict of interests.</p>

scholarly journals Aortic Aneurysm and Dissection in Pregnancy: Report of a Rare Case in a Marfan with Bicuspid Aortic Valve

2020 ◽  
Vol 5 (04) ◽  
pp. 331-334
Author(s):  
Paolo Masiello ◽  
Rocco Leone ◽  
Rossella Maria Benvenga ◽  
Severino Iesu
Keyword(s):  
Aortic Valve ◽  
Aortic Dissection ◽  
Aortic Arch ◽  
Bicuspid Aortic Valve ◽  
Rare Case ◽  
Unplanned Pregnancy ◽  
Type A ◽  
Cardiac Biomarkers ◽  
High Morbidity ◽  
Type A Aortic Dissection

Abstract Background Type A aortic dissection is an emergency with high morbidity and mortality when surgery is not performed. Few cases are described in the literature about aortic dissection during pregnancy. A correlation between pregnancy and aortic dissection is mainly reported in patients with family history and connective tissue disorders, such as Marfan’s syndrome (MS), Loeys–Dietz’s syndrome, and Ehlers–Danlos’s syndromes, and patients with bicuspid aortic valve (BAV); exceptional cases are also described in patients without risk factors. Case presentation A 22-year-old young woman with MS, ascending aorta dilation, and BAV became pregnant. During labor, she experienced a short-term chest pain with spontaneous resolution. The electrocardiogram (ECG) and cardiac biomarkers were negative for acute coronary artery disease, but no transthoracic echocardiogram (TTE) was performed. A caesarean section was performed without complications. After 1 month, a routine TTE showed a chronic ascending aortic dissection involving the aortic arch and supra-aortic vessels. Due to a normally functioning aortic valve, the David operation was performed (sparing aortic valve) with the replacement of the aortic arch and supra-aortic vessels. Conclusions Aortic dissection is a rare cardiovascular complication that can occur during pregnancy and is associated with very high-risk mortality. We have reported a rare case of undiagnosed type A aortic dissection involving the aortic arch during unplanned pregnancy in patients with BAV and MS, subsequently treated with the David surgery and replacement of ascending aortic arch and supra-aortic vessels. A closer clinical and instrumental follow-up is necessary in this particular group of patients at risk. Awareness of all physicians involved is mandatory.

Sign in / Sign up

Export Citation Format

Share Document