The Bicuspid Aortic Valve

Braverman, Alan C.; Güven, Hasan; Beardslee, Michael A.; Makan, Majesh; Kates, Andrew M.; Moon, Marc R.

doi:10.1016/j.cpcardiol.2005.06.002

Cited by 377 publications

(258 citation statements)

References 174 publications

Supporting

Mentioning

233

Contrasting

Unclassified

Order By: Relevance

“…Elongation of the transverse aortic arch and kinking of the lesser curvature are associated with dissection and are common in TS but not visible on transthoracic echocardiography [8]. Studies in diverse aortic aneurysm syndromes have found that the mere presence of a cardiovascular anomaly is coextensive with the risk for aortic dissection/rupture (i.e., a bicuspid aortic valve predicts aortic dissection, not because of secondary hemodynamic effects of abnormal flow through the valve, but because a shared developmental defect impairs correct development of valve and aorta) [9]. Hence, it is extremely important to fully characterize the cardiovascular anatomy in patients with TS.…”

Section: Phenotypementioning

confidence: 99%

Turner syndrome in childhood and adolescence

McCarthy

Bondy²

2008

Expert Review of Endocrinology & Metabolism

View full text Add to dashboard Cite

This article reviews current patterns of ascertainment, clinical characteristics and quality of care for girls with Turner syndrome, based on a cohort of 100 girls (aged 7-17 years) prospectively evaluated at the National Institute of Child Health since 2001. Approximately 25% were diagnosed prenatally or at birth owing to webbed neck and other features typical of fetal lymphedema, few were diagnosed during early childhood, with the majority undiagnosed until age 9 years or older. Major clinical features included thyroid autoimmunity (51%), congenital cardiovascular anomalies (44%), liver abnormalities (36%), hypertension (34%), hearing loss (30%) and renal anomalies (18%). Of the group, 75% were being or had been treated with growth hormone. These girls were an average of 5 cm taller and significantly less obese than the untreated group. We discuss new guidelines for the initiation of puberty and urgent research needed to promote the health and longevity of girls suffering from Turner syndrome as they become adults. Keywords aorta; bicuspid aortic valve; lymphedema; phenotype; short stature; Turner syndrome; X chromosome Turner syndrome (TS) is a relatively common disorder of female development (affecting one out of 2000 births) caused by complete or partial monosomy for the X chromosome during embryonic development. The most consistent features are short stature and premature ovarian failure. Full-scale IQ is usually normal, with verbal scores typically greater than performance scores [1]. With timely diagnosis and intervention, girls with TS may gain improved height, benefit from attention to nonverbal learning difficulties early in school and have puberty at an age similar to their peers. Importantly, all these girls need comprehensive cardiovascular evaluation, since over a third have an underlying congenital cardiovascular defect that places them at an increased risk for life-threatening complications, such as pulmonary hypertension (e.g., partial anomalous pulmonary venous connection) or aortic dissection (i.e., bicuspid aortic valve or dilated ascending aorta). This article focuses on patterns of diagnosis and growth hormone (GH) (59%) are 45,X. The average age of our pediatric study subjects is 12.5 years, with a median of 13 years. The age of diagnosis demonstrates a distinct biphasic pattern ( Figure 1). Four girls were diagnosed prenatally, either incidentally during routine screening or because of an abnormal fetal ultrasound [2]. In total, 18 were diagnosed at birth because of neck webbing and associated signs of lymphedema and, in many cases, severe congenital heart disease. Surprisingly, very few girls were diagnosed during early childhood, despite the fact that growth failure is usually evident from shortly after birth [3], with 60% of girls not diagnosed until age 9 years or later. PhenotypeCommon phenotypic features of the NIH pediatric TS study group are summarized in Table 1. Only 22% of the group had neck webbing, or pterygium colli. This feature is defined as the presence of (u...

show abstract

Section: Phenotypementioning

confidence: 99%

Turner syndrome in childhood and adolescence

McCarthy

Bondy²

2008

Expert Review of Endocrinology & Metabolism

View full text Add to dashboard Cite

show abstract

“…112,113) This anomaly is found in 1 to 2% of the population 114) and causes aortic stenosis or regurgitation at a younger age than the atherosclerotic aortic valve. When these are surgically treated, the dilated aorta is occasionally found.…”

Section: Preventionmentioning

confidence: 99%

Acute Type A Aortic Dissection: for Further Improvement of Outcomes

Orihashi¹

2012

Annals of Vascular Diseases

View full text Add to dashboard Cite

Despite improved outcomes of acute type A aortic dissection (AAAD), many patients die at the moment of onset, and hospital mortality is still high. This article reviews the latest literature to seek the best possible way to optimize outcomes. Delayed diagnosis is caused by variation in or absence of typical symptoms, especially in patients with neurological symptoms. Misdiagnosis as acute myocardial infarction is another problem. Improved awareness by physicians is needed. On arrival, quick admission to the OR is desirable, followed by assessment with transesophageal echocardiography, and malperfusion already exists or newly develops in the OR; thus, timely diagnosis without delay with multimodality assessment is important. Although endovascular therapy is promising, careful introduction is mandatory so as not to cause complications. While various routes are used for the systemic perfusion, not a single route is perfect, and careful monitoring is essential. Surgical treatment on octogenarians is increasingly performed and produces better outcomes than conservative therapy. Complications are not rare, and consent from the family is essential. Prevention of AAAD is another important issue because more patients die at its onset than in the following treatment. In addition to hereditary diseases, including bicuspid aortic valve disease, the management of blood pressure is important.Keywords: aortic dissection, malperfusion, complication, echocardiography A cute type A aortic dissection (AAAD) not only causes sudden death at the time of onset but leads to various life-threatening complications. In spite of improved diagnostic imaging and surgical strategies, in-hospital mortality is still high, and patients who have survived often suffer from sequelae that make subsequent quality of life poor. This article is aimed to review the latest literature and ideas to seek the best possible way to minimize undesirable results.Various complications of AAAD caused by separation of the aortic wall to outer and inner layers are summarized as three categories: 1) aortic rupture due to disruption of the outer layer; 2) malperfusion caused by the inner layer, that is, the intimal flap; and 3) aortic regurgitation by a deformed aortic valve, leading to acute heart failure. Approximately 20% of patients instantaneously die due to aortic rupture, 1) and 1 to 2% of the remaining patients die every hour unless appropriately treated. 2) Although surgical outcomes are gradually improving, in-hospital mortality of surgical patients (repair on the aortic root to the arch) in 2009 was as high as around 10%, according to the Japanese database. 3) For the further improvement of outcomes, problems should be solved in each of preonset, pre-hospital, and in-hospital stages. In this review, the latter two stages are discussed first, since most of the literature focuses on these stages. After that, the issue of pre-onset stage, i.e., prevention is discussed. DelayeD DiagnosisIn consideration of the natural history of AAAD, the "chain of onset-to-sur...

show abstract

“…[6][7][8] In many patients with a BAV, the histology of the aortic wall is similar to that in Marfan syndrome, with abnormalities of smooth muscle, extracellular matrix, elastin, and collagen. [9][10][11] Because the dilatation of either the aortic root or ascending aorta can progress with time, patients with a BAV have a risk of aortic dissection that is related to their severity of dilatation.…”

Section: Magnetic Resonance Imaging (Mri) E No Further Imaging Is mentioning

confidence: 94%

51-Year-Old Man With Heart Murmur

Tajouri

Kumar

Klarich

2010

Mayo Clinic Proceedings

View full text Add to dashboard Cite

A 51-year-old man presented to the internal medicine clinic for a Department of Transportation medical examination to renew his commercial motor vehicle license. He denied any symptoms at the time of his visit. On detailed questioning, however, the patient reported progressive dyspnea on exertion of several months' duration. These symptoms were not particularly worrisome to the patient because he attributed them to deconditioning.The patient's medical history was remarkable for hypertension, hyperlipidemia, diabetes mellitus type 2, and obesity. His medications, all of which he was taking on a long-term basis, included metoprolol, enalapril, simvastatin, glipizide, and metformin. He had a remote smoking history but had not smoked for nearly 5 years. He did not drink alcohol, had no history of intravenous drug use, and was in a monogamous relationship with his wife. Family history was remarkable for coronary artery disease and diabetes mellitus type 2 in his mother.Physical examination revealed an obese man with a body mass index (calculated as weight in kilograms divided by height in meters squared) of 39.8, a blood pressure of 121/76 mm Hg, and a heart rate of 70 beats/min. Standard vision and hearing evaluations were normal. Cardiac examination revealed a regular rhythm and a soft 2/6 systolic crescendo-decrescendo murmur loudest at the right upper sternal border preceded by an ejection click. The murmur was softer with the strain phase of the Valsalva maneuver and with standing from a squatting position. On lung examination, breath sounds were diminished, but no adventitious breath sounds were appreciated. Findings on the remainder of his examination were unremarkable.

show abstract

The Bicuspid Aortic Valve

Cited by 377 publications

References 174 publications

Turner syndrome in childhood and adolescence

Turner syndrome in childhood and adolescence

Acute Type A Aortic Dissection: for Further Improvement of Outcomes

51-Year-Old Man With Heart Murmur

Contact Info

Product

Resources

About