Treatment of Aortic Disease in Patients With Marfan Syndrome

Invited Commentary

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, …

The impact of genetic factors and testing on operative indications and extent of surgery for aortopathy

Update on the Diagnosis and Management of Inherited Aortopathies, Including Marfan Syndrome.

Left ventricular outflow tract obstructions (LVOTOs) encompass a series of stenotic lesions starting in the anatomic left ventricular outflow tract (LVOT) and stretching to the descending portion of the aortic arch (Figure 1). Obstruction may be subvalvar, valvar, or supravalvar. These obstructions to forward flow may present alone or in concert, as in the frequent association of a bicuspid aortic valve with coarctation of the aorta. All of these lesions impose increased afterload on the left ventricle and, if severe and untreated, result in hypertrophy and eventual dilatation and failure of the left ventricle. LVOTOs are congenital in the vast majority of individuals younger than 50 years in the United States; some variants of subaortic obstruction are the exception. It is imperative to consider all patients with LVOTO at a high risk for developing infective endocarditis, and one should always institute appropriate measures for prophylaxis. The present article is intended as a contemporary review of the causes, manifestations, treatments, and outcomes of LVOTO; it will not address LVOTO in the pediatric population or genetic hypertrophic cardiomyopathy but will focus strictly on congenital malformations in the adult. Figure 1. Artist’s rendering of the LVOTO lesions in sequence as viewed from a superolateral orientation. A, Gradient echo cardiac MR image as viewed from the frontal projection demonstrating flow acceleration at a site of supravalvar aortic stenosis (white arrow) in a patient with Williams syndrome. The black arrow identifies the level of the unrestricted aortic valve. B, Classic radiological signs of coarctation of the aorta: rib notching (white arrows) as seen on a posteroanterior chest x-ray in a patient with coarctation of the aorta. The rib notching is caused by erosion of the inferior rib margins by dilated pulsatile posterior intercostals collateral arteries. The black arrow points to the Figure 3 silhouette that …

What Is the Optimal Medical Therapy for Marfan Syndrome?

Aortic root conservative repair of acute type A aortic dissection involving the aortic root: Fate of the aortic root and aortic valve function

Commentary: Delaying the inevitable? Interventions for medically managed, uncomplicated type B aortic dissection.

Predictors for aneurismal formation

Premature Closure of the Mitral Valve: Echocardiographic Clue for the Diagnosis of Aortic Dissection

Commentary: Recurrent aortic insufficiency after emergency surgery for acute type A aortic dissection with aortic root preservation: “A man's got to know his limitations”

A cute severe valvular regurgitation is a surgical emer- gency, but accurate and timely diagnosis can be difficult.Although cardiovascular collapse is a common presentation, examination findings to suggest acute regurgitation may be subtle, and the clinical presentation may be nonspecific.Consequently, the presentation of acute valvular regurgitation may be mistaken for other acute conditions, such as sepsis, pneumonia, or nonvalvular heart failure.Although acute regurgitation may affect any valve, acute regurgitation of the left-sided valves is more common and has greater clinical impact than acute regurgitation of right-sided valves.Data to guide appropriate management of patients with acute regurgitation are sparse; there are no randomized trials, and much of the literature describes either small series or the experiences of specific centers.Despite these limitations, the available data are sufficient to allow identification of general principles as well as development of applicable guidelines from both the American College of Cardiology/American Heart Association and European Society of Cardiology.2][3] The data and guidelines emphasize overarching clinical principles, including the need for a high clinical suspicion of acute regurgitation, timely use of echocardiography, and, in the majority of patients, rapid progression to surgery. CausesCauses of acute regurgitation overlap with causes of chronic regurgitation and vary depending on the valve affected (Table 1).Endocarditis may affect either the aortic or mitral valve, whereas other causes are unique to the specific valve involved.The majority of causes of acute regurgitation present as an acute or subacute event.However, acute regurgitation can occur in patients with chronic regurgitation, when regurgitant severity is exacerbated by factors such as coronary ischemia, chordal rupture, or leaflet perforation from endocarditis.Acute regurgitation of either the aortic or mitral valve may result from procedural complications of percutaneous valve procedures.In addition, acute prosthetic valve regurgitation is seen more frequently as more patients undergo valve surgery.Acute prosthetic valve regurgitation is usually due to a tear of a bioprosthetic leaflet 4 or thrombosis of a mechanical valve, although perivalvular regurgitation can occur, particularly in prosthetic valve endocarditis.Acute aortic regurgitation is most commonly due to endocarditis, but there are a variety of less common causes as well.Aortic dissection, whether due to Marfan syndrome, bicuspid aortic valve, or atherosclerotic disease, may present with aortic regurgitation.Blunt trauma may result in leaflet rupture. 5Another less common cause is rupture of a fenestration in the aortic leaflet. 6cute mitral regurgitation may result from either "organic" or "functional" causes.Organic causes are those that result in permanent structural disruption of the valve, such as leaflet perforation from endocarditis, chordal rupture in myxomatous valve disease, or papillary muscle rupture due to myocardial infarction.Functional mitral regurgitation results from abnormalities of the left ventricle, such as cardiomyopathies in which the papillary muscles are laterally displaced, or acute ischemia, in which an akinetic wall segment and papillary muscle impair mitral valve closure.The distinction between organic and functional causes is an important one because treatment of organic causes requires surgical repair, whereas functional causes may improve with treatment of the underlying myocardial ischemia, infarction, or cardiomyopathy.Functional mitral regurgitation is more often chronic than acute.However, processes that result in rapid decline of ventricular function may cause acute functional mitral regurgitation as part of the presentation of acute heart failure.8][9] Emphasizing the variability in pathological process, a study demonstrated that mitral regurgitation in Takotsubo cardiomyopathy can result from outflow tract obstruction and systolic anterior mitral leaflet motion due to apical ballooning with preserved basal ventricular function. 9Rheumatic carditis can cause acute mitral regurgitation through a combination of leaflet inflammation and myocardial dysfunction, with some data suggesting that the degree of valve dysfunction drives outcomes. 10Although uncommon in industrialized nations, acute rheumatic carditis remains a significant issue in developing countries.

Surgical Strategy and Outcome for Aortic Root in Patients Undergoing Repair of Acute Type A Aortic Dissection

Cardiovascular risks of pregnancy in women with Turner syndrome

Cardiovascular disease is the leading cause of death in most Western societies and is increasing steadily in many developing countries. Aortic diseases constitute an emerging share of the burden. New diagnostic imaging modalities, longer life expectancy in general, longer exposure to elevated blood pressure, and the proliferation of modern noninvasive imaging modalities have all contributed to the growing awareness of acute and chronic aortic syndromes. Despite recent progress in recognition of both the epidemiological problem and diagnostic and therapeutic advances, the cardiology community and the medical community in general are far from comfortable in understanding the spectrum of aortic syndromes and defining an optimal pathway to manage aortic diseases.1–13 This comprehensive review is organized in two parts, with a focus on the etiology, natural history, and classification (with vascular staging) of aortic wall disease in Part I and emphasis on therapeutic management and follow-up in Part II. Both parts may help to better integrate the complexities of acute aortic syndromes.