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In Heyde's syndrome, aortic stenosis is associated with gastrointestinal bleeding due to angiodysplasia of the colon. Recent research has shown that the stenosis causes a form of von Willebrand disease by breaking down its associated coagulation factor (factor VIII-associated antigen, also called von Willebrand factor), due to increased turbulence around the stenotic valve.
The risk of death in individuals with aortic insufficiency, dilated ventricle, normal ejection fraction who are asymptomatic is about 0.2 percent per year. Risk increases if the ejection fraction decreases or if the individual develops symptoms.
Individuals with chronic (severe) aortic regurgitation follow a course that once symptoms appear, surgical intervention is needed. AI is fatal in 10 to 20% of individuals who do not undergo surgery for this condition. Left ventricle dysfunction determines to an extent the outlook for severity of aortic regurgitation cases.
Notwithstanding the foregoing, the American Heart Association has recently changed its recommendations regarding antibiotic prophylaxis for endocarditis. Specifically, as of 2007, it is recommended that such prophylaxis should be limited only to those with prosthetic heart valves, those with previous episode(s) of endocarditis, and those with certain types of congenital heart disease.
Since the stenosed aortic valve may limit the heart's output, people with aortic stenosis are at risk of syncope and dangerously low blood pressure should they use any of a number of medications for cardiovascular diseases that often coexist with aortic stenosis. Examples include nitroglycerin, nitrates, ACE inhibitors, terazosin (Hytrin), and hydralazine. Note that all of these substances lead to peripheral vasodilation. Under normal circumstances, in the absence of aortic stenosis, the heart is able to increase its output and thereby offset the effect of the dilated blood vessels. In some cases of aortic stenosis, however, due to the obstruction of blood flow out of the heart caused by the stenosed aortic valve, cardiac output cannot be increased. Low blood pressure or syncope may ensue.
The prognosis of tricuspid insufficiency is less favorable for males than females. Furthermore, increased tricuspid insufficiency (regurgitation) severity is an indication of a poorer prognosis according to Nath, et al. It is also important to note that since tricuspid insufficiency most often arises from left heart failure or pulmonary hypertension, the person's prognosis is usually dictated by the prognosis of the latter conditions and not by the tricuspid insufficiency "per se".
Inflammation of the heart valves due to any cause is called valvular endocarditis; this is usually due to bacterial infection but may also be due to cancer (marantic endocarditis), certain autoimmune conditions (Libman-Sacks endocarditis, seen in systemic lupus erythematosus) and hypereosinophilic syndrome (Loeffler endocarditis). Certain medications have been associated with valvular heart disease, most prominently ergotamine derivatives pergolide and cabergoline.
Valvular heart disease resulting from rheumatic fever is referred to as "rheumatic heart disease". Damage to the heart valves follows infection with beta-hemolytic bacteria, such as typically of the respiratory tract. Pathogenesis is dependent on cross reaction of M proteins produced by bacteria with the myocardium. This results in generalized inflammation in the heart, this manifests in the mitral valve as vegetations, and thickening or fusion of the leaflets, leading to a severely compromised buttonhole valve.
Rheumatic heart disease typically only involves the mitral valve (70% of cases), though in some cases the aortic and mitral valves are both involved (25%). Involvement of other heart valves without damage to the mitral are exceedingly rare.
While developed countries once had a significant burden of rheumatic fever and rheumatic heart disease, medical advances and improved social conditions have dramatically reduced their incidence. Many developing countries, as well as indigenous populations within developed countries, still carry a significant burden of rheumatic fever and rheumatic heart disease and there has been a resurgence in efforts to eradicate the diseases in these populations.
Bicuspid aortic valves are the most common cardiac valvular anomaly, occurring in 1–2% of the general population. It is twice as common in males as in females.
Bicuspid aortic valve is a heritable condition, with a demonstrated association with mutations in the NOTCH1 gene. Its heritability (formula_1) is as high as 89%. Both familial clustering and isolated valve defects have been documented. The incidence of bicuspid aortic valve can be as high as 10% in families affected with the valve problem..Recent studies suggest that BAV is an autosomal dominant condition with incomplete penetrance. Other congenital heart defects are associated with bicuspid aortic valve at various frequencies, including coarctation of the aorta.
Quadricuspid aortic valves are very rare cardiac valvular anomalies with a prevalence of 0.013% to 0.043% of cardiac cases and a prevalence of 1 in 6000 patients that undertake aortic valve surgery. There is a slight male predominance in all of the cases, and the mean age is 50.7.
In terms of the cause of aortic insufficiency, is often due to the aortic root dilation ("annuloaortic ectasia"), which is idiopathic in over 80% of cases, but otherwise may result from aging, syphilitic aortitis, osteogenesis imperfecta, aortic dissection, Behçet's disease, reactive arthritis and systemic hypertension. Aortic root dilation is the most common cause of aortic insufficiency in developed countries. Additionally, aortic insufficiency has been linked to the use of some medications, specifically medications containing fenfluramine or dexfenfluramine isomers and dopamine agonists. Other potential causes that affect the valve directly include Marfan syndrome, Ehlers–Danlos syndrome, ankylosing spondylitis, and systemic lupus erythematosus. In acute cases of aortic insufficiency, the main causes are infective endocarditis, aortic dissection or trauma.
The following table includes the main types of valvular stenosis and regurgitation. Major types of valvular heart disease not included in the table include mitral valve prolapse, rheumatic heart disease and endocarditis.
The mitral valve apparatus comprises two valve leaflets, the mitral valve annulus, which forms a ring around the valve leaflets, and the papillary muscles, which tether the valve leaflets to the left ventricle and prevent them from prolapsing into the left atrium. The "chordae tendineae" are also present and connect the valve leaflets to the papillary muscles. Dysfunction of any of these portions of the mitral valve apparatus can cause regurgitation.
The most common cause of MI in developing countries is mitral valve prolapse (MVP). and is the most common cause of primary mitral regurgitation in the United States, causing about 50% of cases. Myxomatous degeneration of the mitral valve is more common in women as well as with advancing age, which causes a stretching of the leaflets of the valve and the chordae tendineae. Such elongation prevents the valve leaflets from fully coming together when the valve closes, causing the valve leaflets to prolapse into the left atrium, thereby causing MI.
Ischemic heart disease causes MI by the combination of ischemic dysfunction of the papillary muscles, and the dilatation of the left ventricle. This can lead to the subsequent displacement of the papillary muscles and the dilatation of the mitral valve annulus.
Rheumatic fever and Marfan's syndrome are other typical causes. MI and mitral valve prolapse are also common in Ehlers Danlos Syndrome.
Secondary mitral insufficiency is due to the dilatation of the left ventricle that causes stretching of the mitral valve annulus and displacement of the papillary muscles. This dilatation of the left ventricle can be due to any cause of dilated cardiomyopathy including aortic insufficiency, nonischemic dilated cardiomyopathy, and Noncompaction cardiomyopathy. Because the papillary muscles, chordae, and valve leaflets are usually normal in such conditions, it is also called functional mitral insufficiency.
Acute MI is most often caused by endocarditis, mainly "S. aureus". Rupture or dysfunction of the papillary muscle are also common causes in acute cases, dysfunction, which can include mitral valve prolapse.
Bicuspid aortic valve abnormality is seen in 1 to 2 percent of all live births. It is associated with a number of mutations affecting Notch signalling pathway.
Significant mitral valve regurgitation has a prevalence of approximately 2% of the population, affecting males and females equally. It is one of the two most common valvular heart diseases in the elderly.
Right-sided aortic arch is rare, with a prevalence among adults of about 0.01%.
The most common complications of QAV are aortic regurgitations. This is caused by the inadequate closing of the four cusps during systole. The fourth dysplastic cusp is incapable of fully closing the aortic annulus, which causes a backflow of blood through the aortic valve. Using transthoracic echocardiograms, 3-D TEE and ECG traces, it is also possible to find left ventricular hypertrophy, bundle branch blocks, and abnormal displacement of the ostium in the right coronary artery in association with QAV. Some research has shown increased incidences of atrial fibrillation to be associated but this relationship is not yet clearly established.
Tricuspid insufficiency (TI), a valvular heart disease also called tricuspid regurgitation (TR), refers to the failure of the heart's tricuspid valve to close properly during systole. This defect allows the blood to flow backwards, reducing its efficiency.
Regurgitation may be due to a structural change of components of the tricuspid valve apparatus, a lesion can be primary (intrinsic abnormality) or secondary (right ventricular dilatation).
Since the valve does not open properly in aortic stenosis, there is a decrease in the forward movement of blood into the aorta. Fetal aortic stenosis impairs left ventricular development, which can lead to hypoplastic left heart syndrome. If untreated, HLHS is lethal, as a result of the inability of the left heart to pump enough blood to sustain normal organ function. In fetal life, this is condition is manageable because the ductus arteriosus acts as a bypass, and supports the delivery of oxygenated blood to the systemic circulation. However, the ductus arteriosus closes during the first few days of life, resulting in systemic circulation failure in babies born with aortic valve stenosis.
Fetal aortic stenosis is a disorder that occurs when the fetus’ aortic valve does not fully open during development. The aortic valve is a one way valve that is located between the left ventricle and the aorta, keeping blood from leaking back into the ventricle. It has three leaflets that separate when the ventricle contracts to allow blood to move from the ventricle to the aorta. These leaflets come together when the ventricle relaxes.
Hypertension is defined when a patient's blood pressure in the arm exceeds 140/90 mmHg under normal conditions. This is a severe problem for the heart and can cause many other complications. In a study of 120 coarctation repair recipients done in Groningen, The Netherlands, twenty-nine patients (25%) experienced hypertension in the later years of life due to the repair. While hypertension has many different factors that lead to this stage of blood pressure, people who have had a coarctation repair — regardless of the age at which the operation was performed — are at much higher risk than the general public of hypertension later in life. Undetected chronic hypertension can lead to sudden death among coarctation repair patients, at higher rates as time progresses.
Angioplasty is a procedure done to dilate an abnormally narrow section of a blood vessel to allow better blood flow. This is done in a cardiac catheterization laboratory. Typically taking two to three hours, the procedure may take longer but usually patients are able to leave the hospital the same day. After a coarctation repair 20-60% of infant patients may experience reoccurring stenosis at the site of the original operation. This can be fixed by either another coarctectomy.
Coronary artery disease (CAD) is a major issue for patients who have undergone a coarctation repair. Many years after the procedure is done, heart disease not only has an increased chance of affecting coarctation patients, but also progresses through the levels of severity at an alarmingly increased rate. In a study conducted by Mare Cohen, MD, et al., one fourth of the patients who experienced a coarctation died of heart disease, some at a relatively young age.
Clinical criteria are used in most studies when defining recurrence of coarctation (recoarctation) when blood pressure is at a difference of >20 mmHg between the lower and upper limbs. This procedure is most common in infant patients and is uncommon in adult patients. In a study conducted by Koller et al., 10.8% of infant patients underwent recoarctations at less than two years of age while another 3.1% of older children received a recoarctation.
People who have had a coarctation of the aorta are likely to have bicuspid aortic valve disease. Between 20% and 85% of patients are affected with this disease. Bicuspid aortic valve disease is a big contributor to cardiac failure, which in turn makes up roughly 20% of late deaths to coarctation patients.
Establishing the incidence of aortic dissection has been difficult because many cases are only diagnosed after death (which may have been attributed to another cause), and is often initially misdiagnosed. Aortic dissection affects an estimated 2.0–3.5 people per every 100,000 every year. Studies from Sweden suggest that the incidence of aortic dissection may be rising. Men are more commonly affected than women: 65% of all people with aortic dissection are male. The mean age at diagnosis is 63 years. In females before the age of 40, half of all aortic dissections occur during pregnancy (typically in the third trimester or early postpartum period).
Aortic stenosis in the Rottweiler appears to be true subvalvular aortic stenosis (SAS), similar to that in the Newfoundland dog, as opposed to the valvular form (seen more in boxer dogs) or the supravalvular form sometimes seen in people.
Among the recognized risk factors for aortic dissection, hypertension, abnormally high levels of lipids (such as cholesterol) in the blood, and smoking tobacco are considered preventable risk factors.
Repair of an enlargement of the ascending aorta from an aneurysm or previously unrecognized and untreated aortic dissections is recommended when greater than in size to decrease the risk of dissection. Repair may be recommended when greater than in size if the person has one of the several connective-tissue disorders or a family history of a ruptured aorta.
The causes of right-sided aortic arch are still unknown. 22q11 deletions have been found in some patients.
Complete vascular rings represent about 0.5-1% of all congenital cardiovascular malformations. The majority of these are double aortic arches.
There is no known gender preference, i.e. males and females are about equally affected. There is also no known ethnic or geographic disposition.
Associated cardiovascular anomalies are found in 10-15% of patients. These include:
- Atrial septal defect (ASD)
- Ventricular septal defect (VSD)
- Patent ductus arteriosus (PDA)
- Tetralogy of Fallot (ToF)
- Transposition of the great arteries (D-TGA)
In treating pulmonary insufficiency, it should be determined if pulmonary hypertension is causing the problem to therefore begin the most appropriate therapy as soon as possible (primary pulmonary hypertension or secondary pulmonary hypertension due to thromboembolism). Furthermore, pulmonary insufficiency is generally treated by addressing the underlying condition, in certain cases, the pulmonary valve may be surgically replaced.
Unfortunately, coarctations can not be prevented because they are usually present at birth. The best thing for patients who are affected by coarctations is early detection. Some signs that can lead to a coarctation have been linked to pathologies such as Turner syndrome, bicuspid aortic valve, and other family heart conditions.