Turner syndrome and acute type A aortic dissection: a national inpatient analysis of risk and outcomes.

1. Talha Niaz, MBBS* 2. Jonathan N. Johnson, MD*,† 3. Frank Cetta, MD*,† 4. Timothy M. Olson, MD*,† 5. Donald J. Hagler, MD*,† 1. *Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, and 2. †Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN * Abbreviations: AHA : : American Heart Association BAV : : bicuspid aortic valve TTE : : transthoracic echocardiography Bicuspid aortic valve is the most common congenital heart defect in children, adolescents, and adults. Primary care providers play an important role in screening, referral, and follow-up of these patients and should be aware of the family screening guidelines, sports participation recommendations, and periodic follow-up requirements for adequate surveillance of the complications that arise from bicuspid aortic valve. After reading this article, readers should be able to: 1. Describe the epidemiology and anatomy of bicuspid aortic valve (BAV). 2. Understand the clinical presentation and diagnosis of BAV in infants, children, and adolescents. 3. Identify the various complications of BAV disease. 4. Discuss the management and follow-up requirements for BAV. 5. Analyze the family screening and sports participation guidelines for patients with BAV. Bicuspid aortic valve (BAV) is the most common congenital heart defect in children, adolescents, and adults. (1) It is a heterogeneous disease that affects both the aortic valve and the aorta. It can lead to many complications, including aortic valve stenosis, regurgitation, or endocarditis. (2)(3) It also can lead to dilation of the aorta, predisposing individuals to a significantly higher risk of aortic aneurysm and dissection. (4) Although most individuals with BAV present with these long-term complications during adulthood, a considerable number of patients may also present during childhood and adolescence with early-onset disease; that may require interventions in up to 12% to 15% of the patients. (5)(6) Therefore, patients with BAV require lifelong follow-up and surveillance. BAV has multiple implications in terms of sports participation and family screening, making it an important subject for primary care providers. This article reviews the anatomy, genetics, presentation, diagnosis, …

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As children, we learned that a balloon blown up to its limit of elasticity would pop. For similar aortic ballooning, we hardly know more. Furthermore, in the 21st century, with a nascent epidemic of aortic-related deaths, there have been no consequential advances in preventing the loss of aortic elasticity or in describing the etiology or injury that causes aortic disease. Nor is there an explanation as to why, in some people the aorta “pops” and in others, the aorta dissects. See p 1098 In the United States between 1999 and 2001, at least 129 533 people died from diseases of the aorta and its branches, excluding carotid and coronary disease—an average of 43 199/year, according to the Centers for Disease Control and Prevention ICD-10 codes (Table). The upper limit could potentially exceed 46 817 per year. This number is greater than the ≈40 000 people who die annually from breast cancer, homicides, pancreatic cancer, colon cancer, prostate cancer, or motor vehicle accidents.1 Despite this, little research and even less funding have been allocated to aortic disease research, possibly because disease of a supposedly utilitarian pipe that conveys blood to a pantheon of organs engenders less interest or sympathy in comparison with, for example, cancer. Furthermore, the dismal prognosis of aortic disease, a marker of systemic problems despite successful surgery, has not roused much concern, with a 5-year average survival rate of only 60% in most patients.2 This figure does not differ much from that of stage IB lung cancer. Even the aortic disease–related deaths of media figures such as Albert Einstein, Lucille Ball, Conway Twitty, and John Ritter have fomented little interest. As Western populations age, this most common cause of deaths including sudden death will become an increasing factor in long-term survival. View this table: Deaths Related to Aortic Disease …

The population frequency of a bicuspid aortic valve is ≈0.9% to 1.36%,1–3 with a 2:1 male:female ratio. It is likely that the presence of a bicuspid aortic valve has a genetic basis, with the pattern of transmission in some families suggesting an autosomal dominant pattern of inheritance.4,5 Epidemiological data from the Baltimore-Washington Infant Study demonstrated the familial clustering of left heart obstructive lesions (including coarctation of the aorta, aortic valve stenosis, and hypoplastic left heart syndrome).6 More recently, the increased risk of identifying a bicuspid aortic valve in the parent or sibling of the proband with any form of left heart obstructive lesion was described.7 By inference, this also suggests the potential identification of a congenitally malformed aortic valve in the presence a family member with a more complex congenital heart lesion. In addition, a bicuspid aortic valve is present in >50% of patients with aortic coarctation8 and in 10% to 12% of women with Turner syndrome.9 The specific genetic locus and protein abnormality in patients with a bicuspid aortic valve have not yet been identified, however. See p 920 The tissue abnormality in patients with a bicuspid aortic valve is not confined to the valve leaflets; these patients are at increased risk of aortic aneurysm and dissection. At the tissue level, the aorta shows cystic medial necrosis, loss of elastic fibers, increased apoptosis, and altered smooth muscle cell alignment.10 When compared with patients with a trileaflet valve, patients with a bicuspid valve have larger aortic root dimensions and an increased rate of aortic dilation over time, with the degree of aortic dilation independent of valve hemodynamics.11,12 The risk of aortic dissection in patients with a bicuspid valve is 5 to 9 times higher than in the general population, although some investigators …

Reply of the authors: Cardiovascular risks of pregnancy in women with Turner syndrome & Susceptibility to aortic dissection in Turner Syndrome pregnancy: inadequacy of the ASRM Practice Committee Report

The aortic arch and its branches form during the third week of embryogenesis, which involves a complex process. Abnormalities of the arch branching pattern arise by persistence of segments of arches that normally disappear or the disappearance of segments of arches that normally remain, or both [1]. The most common human aortic arch branching pattern has the innominate artery, the left common carotid artery and the left subclavian artery all as separate branches (Fig. 1). The most common variant branching pattern involves the left common carotid artery arising in a common origin with the innominate artery (Fig. 2), and the next most common the similar left common carotid artery originating from the innominate artery itself (Fig. 3). A true bovine arch involves a single common brachiocephalic trunk arising from the arch which then splits into the right subclavian artery, a bicarotid trunk and a left subclavian artery (Fig. 4), and is actually extremely uncommon in humans [2]. Originally the variations of t...

Marfan syndrome (MFS) is a heritable disorder of the connective tissue with a prevalence of ≈1 in 3000 to 5000 individuals. The condition is inherited in an autosomal dominant manner with complete penetrance but demonstrates variable expression with significant intra- and interfamilial variation. Approximately 25% of patients do not have a family history and represent sporadic, new mutations for the condition. The cardinal features of MFS involve the cardiovascular, ocular, and skeletal systems. The most life-threatening complication of MFS is thoracic aortic aneurysms leading to aortic dissection, rupture, or both. This article focuses on medical and surgical treatment of aortic disease in patients with MFS and addresses the treatment of aortic disease in children and pregnant women with the condition. The most common cardiovascular complication in patients with MFS is progressive aortic root enlargement initially occurring at the sinuses of Valsalva. Ascending aortic aneurysm can precipitate acute type A aortic dissection, aortic rupture, aortic regurgitation (AR), or all 3, and these complications were the primary cause of death before the advent of successful preventive therapies. Treatment of the aorta consists of regular imaging to detect and quantify progression of aortic dilation, β-adrenergic receptor antagonist therapy, and prophylactic aortic repair when the dilation reaches a sufficient size to threaten dissection or cause AR. Before the era of open-heart surgery, the majority of patients with MFS died prematurely of rupture of the aorta, with an average life expectancy of 45 years.1 The success of current medical and surgical treatment of aortic disease in MFS has substantially improved the average life expectancy, extending it up to 70 years.2,3 Cardiovascular manifestations in MFS also include valvular disease involving the mitral valve, aortic valve, or both. Mitral valve prolapse is the most prevalent valvular abnormality, affecting 35% to 100% of patients.4 Mitral …

The aim of this study is to investigate the clinical characteristics and postoperative outcome of patients with a bicuspid aortic valve (BAV) suffering acute dissection in comparison with their tricuspid peers. Between 1995 and 2011, 460 consecutive patients underwent emergency repair for acute type A aortic dissection. In 379 patients without connective tissue disease, the aortic valve morphology could clearly be specified (91.6% tricuspid and 8.4% bicuspid). At the time of dissection, patients with a bicuspid valve were younger (46.7 ± 13 vs 61.6 ± 12 years, P < 0.001) with the entry tear more often located in the root compared with those with a tricuspid valve (bicuspid: 31.3% vs tricuspid: 6.3%, P < 0.001). Consequently, surgical repair warranted root replacement in 93.8% of bicuspid vs 28.8% of tricuspid valve patients (P < 0.001). The leading pathology was medial necrosis/degeneration in bicuspid and atherosclerosis in tricuspid patients (P = 0.166). Hospital mortality was 20.3% and not significantly different between the two valve morphologies, even despite the younger age of bicuspid patients: 28.1% among bicuspids vs 19.6% among tricuspids (P = 0.255). Survival after discharge was 63.3% at 10 years for all patients. BAV patients had a significantly better survival with 100% at 10 years compared with 60.2% in tricuspid valve patients (P = 0.011). Mean follow-up among survivors was comparable for bicuspid and tricuspid patients (3.7 and 4.1 years, respectively). Patients with BAV have a distinctive dissection pattern with the entry tear frequently located in the aortic root and-despite their younger age-are subject to substantial hospital mortality. For bicuspid patients suffering from dissection, composite root replacement yields an excellent outcome equal to an age- and gender-matched normal population.

Outcome of Endovascular Treatment of Acute Type B Aortic Dissection