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Congenital Aortic Valve Stenosis

Congenital aortic valve stenosis is the inborn obstruction of blood flow through the aortic valve, most often associated with abnormal valve morphology: aortic bicuspid or unicuspid valve. It can be associated with other cardiac malformations and the condition, in the majority of cases, becomes symptomatic sooner or later. Critical congenital aortic valve stenosis should be addressed immediately.


Presentation

Congenital aortic valve stenosis patients could rapidly develop heart failure symptoms, such as tachypnea, deficient feeding, unsatisfactory ponderal curve, and decreased urine output. These become worse every day, as the patency of ductus arteriosus decreases. If the valvular stenosis is not critical, children remain asymptomatic for a period of time and the suspicion is raised by clinical examination performed for other conditions. It is estimated that less than 15% of patients are symptomatic before they reach the age of one year [1] [2]. However, congenital aortic valve stenosis patients may have certain complaints, such as asthenia, excessive sleeping, decreased exercise tolerance, presyncope, syncope, dyspnea, and chest pain. Sudden death during strenuous activities may be the first manifestation of congenital aortic valve stenosis.

In severely ill newborns, a murmur may not be audible or may be low grade and not accompanied by a thrill because of the low cardiac output. Clicks are also absent, because of the decreased mobility of the valve. In these patients, presentation resembles a sepsis case. Affected patients have symmetrically decreased or absent peripheral pulses and low peripheral perfusion, they are tachycardic, tachypneic, and dyspneic. If the stenosis is not critical, the patient is likely to be sent to a consultation with a pediatric cardiologist because an intense systolic murmur is heard.

Congenital aortic valve stenosis may be accompanied by aortic regurgitation. In this case, a balloon dilatation should not be performed. In cases where regurgitation is absent, this procedure may alleviate symptoms [3], but the valve may become stenotic again after a while or regurgitation may follow dilatation [4] [5].

In older children, the clinical diagnosis is easier to establish and is based on findings like a harsh systolic crescendo-descrescendo ejection murmur that peaks in mid-systole in the aortic auscultation area, which is more intense and longer if the valve is severely stenotic. A suprasternal thrill is often found. The murmur radiates to the neck and is better heard in a forward leaning, squatting or left decubitus position. The aortic component of the second heart sound is more or less delayed, depending on the severity of the obstruction, sometimes leading to a paradoxically split second heart sound. Left ventricular hypertrophy is suggested by the presence of the fourth heart sound or an increased apical impulse.

Fatigue
  • Signs and symptoms of severe defects in newborns include Rapid breathing Cyanosis - a bluish tint to the skin, lips, and fingernails Fatigue Poor blood circulation Many congenital heart defects cause few or no signs and symptoms.[icdlist.com]
  • Heart failure signs and symptoms include fatigue, shortness of breath, and swollen ankles and feet. When to see a doctor If you have a heart murmur, your doctor may recommend that you visit a cardiologist.[mayoclinic.com]
  • This means that not enough blood can flow through it, which can lead to a variety of issues, including fatigue, blood clots, and heart failure. Mitral valve stenosis is usually a congenital heart defect meaning it is present at the time of birth.[stlouischildrens.org]
  • Fatigue. Aortic stenosis can weaken the heart and lead to heart failure. It can also cause everyday health problems including shortness of breath, swollen ankles and feet, chest pain, and fatigue.[upmc.com]
Congestive Heart Failure
  • If congestive heart failure leads to a fall in cardiac output, the murmur will be quieter. An ejection click may be present, especially with bicuspid valves.[patient.info]
  • Sutter offers the widest array of heart-related services in Northern California, including expert diagnosis and treatment for heart attacks, congenital cardiac defects, congestive heart failure, valve conditions, heart arrhythmias, and circulation problems[checksutterfirst.org]
  • When the heart begins to fail, symptoms of congestive heart failure can develop including fatigue, weakness, shortness of breath with exercise or at night, and swelling in the ankles.[healthcentral.com]
  • If untreated, aortic stenosis can cause the left ventricle to weaken and fluid to back up in the lungs causing congestive heart failure. Most patients recover well after having an aortic valve replacement.[wexnermedical.osu.edu]
Weight Gain
  • In most cases, the symptoms that are most identifiable are rapid breathing, slow growth/weight gain or a soft heart murmur.[stlouischildrens.org]
Nausea
  • . , male, 76 years old, sought medical attention complaining of chest tightness, without irradiation, associated with nausea and sweating, usually starting with minor stresses.[web.archive.org]
  • Vasopressin Isolated in 1951, 16 the nonapeptide vasopressin or “antidiuretic hormone” is stored primarily in granules in the posterior pituitary gland and is released after increased plasma osmolality or hypotension, as well as pain, nausea, and hypoxia[doi.org]
Heart Disease
  • […] defect (Medical Encyclopedia) [ Read More ] Heart Valve Diseases Also called: Valvular heart disease Your heart has four valves.[icdlist.com]
  • Citation US Cardiology, 2007;4(1):91-3 Pages The prevalence of heart disease in pregnant women is estimated to be between 0.1 and 4%; although the prevalence has not changed for decades, the relative contribution of different types of heart disease varies[uscjournal.com]
  • RESULTS: Congenital aortic valve stenosis occurred in 5.7% of patients with congenital heart disease born in the Merseyside area. The median age at presentation was 16 months (range 0-20 years).[ncbi.nlm.nih.gov]
  • Why do we need new guidelines on valvular heart disease? 2.2. Content of these guidelines 2.3. New format of the guidelines 2.4 How to use these guidelines 3.[escardio.org]
  • Abstract Aortic stenosis (AS) is the most commonly acquired valvular heart disease in the Western world (2-7% of the population aged 65 years) and the mortality for untreated symptomatic severe AS is up to 50-60% at 2 years in high-risk patients.[doi.org]
Heart Murmur
  • The main sign of heart valve disease is an unusual heartbeat sound called a heart murmur. Your doctor can hear a heart murmur with a stethoscope. But many people have heart murmurs without having a problem.[icdlist.com]
  • When to see a doctor If you have a heart murmur, your doctor may recommend that you visit a cardiologist. If you develop any symptoms that may suggest aortic valve stenosis, see your doctor.[mayoclinic.com]
  • A heart murmur, click, or other abnormal sound is almost always heard through a stethoscope. The provider may be able to feel a vibration or movement when placing a hand over the heart.[nlm.nih.gov]
  • Many times, a doctor will first notice your child has a heart murmur. Heart murmurs can be detected with a stethoscope during a routine physical examination or with an electrocardiogram (EKG or ECG).[stlouischildrens.org]
Systolic Murmur
  • If the stenosis is not critical, the patient is likely to be sent to a consultation with a pediatric cardiologist because an intense systolic murmur is heard. Congenital aortic valve stenosis may be accompanied by aortic regurgitation.[symptoma.com]
  • Cardiovascular examination revealed ejective systolic murmur at aortic focus /6 , irradiating to the suprasternal notch. Pulmonary examination with crackling rales at the bases. Peripheral edema /4 , and good peripheral perfusion.[web.archive.org]
  • Both conditions are associated with an early, harsh systolic murmur that is transmitted to the carotids. A similar murmur may occur without stenosis if turbulence is due to aortic aneurysm causing dilation of the proximal aorta.[patient.info]
Pulsus Parvus et Tardus
  • Symptoms typically present on exertion, unless AS is severe Dyspnea Angina pectoris Dizziness and syncope Small blood pressure amplitude, decreased pulse pressure Cardiac exam (see cardiovascular examination ) Delayed and weak pulse ( Pulsus parvus et[amboss.com]
  • Signs Examination of the pulse in significant AS reveals a slow-rising, flat character called pulsus parvus et tardus. [ 7 ] Blood pressure will show a narrow pulse pressure (difference between systolic and diastolic pressures).[patient.info]
  • Clinical examination classically reveals a narrow pulse pressure, a slow-rising peripheral pulse, pulsus parvus et tardus (weak and delayed pulse) in the carotid pulse, a pressure loaded ('heaving') apex beat, and a crescendo-decrescendo mid-systolic[radiopaedia.org]
  • This is sometimes referred to as pulsus parvus et tardus. There may also be a noticeable delay between the first heart sound (on auscultation) and the corresponding pulse in the carotid artery (so-called 'apical-carotid delay').[en.wikipedia.org]
Narrow Pulse Pressure
  • Signs Examination of the pulse in significant AS reveals a slow-rising, flat character called pulsus parvus et tardus. [ 7 ] Blood pressure will show a narrow pulse pressure (difference between systolic and diastolic pressures).[patient.info]
  • Clinical examination classically reveals a narrow pulse pressure, a slow-rising peripheral pulse, pulsus parvus et tardus (weak and delayed pulse) in the carotid pulse, a pressure loaded ('heaving') apex beat, and a crescendo-decrescendo mid-systolic[radiopaedia.org]
  • pulse pressure Although aortic stenosis does not lead to any specific findings on the electrocardiogram (ECG), it still often leads to a number of electrocardiographic abnormalities.[en.wikipedia.org]
  • Patients with decompensated HF unresponsive to diuresis often have diminished concomitant peripheral perfusion, clinically apparent as cool extremities, narrowed pulse pressure, and worsening renal function.[doi.org]
Dizziness
  • Clinical presentations range from a neonatal severe presentation often associated with sudden cardiac death, to a slowly progressive stenosis that presents later with cardiac murmur, chest pain, dizziness, and loss of consciousness with exercise-induced[orpha.net]
  • In some children chest pain, unusual tiring, dizziness or fainting may occur. Otherwise, most children with aortic stenosis have no symptoms, and special tests may be needed to determine the severity of the problem.[heart.org]
  • Patients feel shortness of breath, dizziness, and chest pain. 2018 Intermountain Healthcare. All rights reserved. The content presented here is for your information only.[intermountainhealthcare.org]
  • Signs and symptoms of aortic valve stenosis may include: Abnormal heart sound (heart murmur) heard through a stethoscope Chest pain (angina) or tightness with activity Feeling faint or dizzy or fainting with activity Shortness of breath, especially when[mayoclinic.com]
  • Fainting, weakness, or dizziness with activity.[nlm.nih.gov]

Workup

Workup should include a thoracic radiography, that may reveal the presence of cardiomegaly and pulmonary venous congestion in critical congenital aortic valve stenosis. The ascending aorta may be dilated. The diagnosis is established by echocardiography. Two-dimensional echo will characterize valve anatomy as well as the number and mobility of leaflets. Moreover, it will measure the size of the valvular ring. It is also important to describe the presence of associated abnormalities and characterize the left ventricular function. Continuous and pulsed Doppler echocardiography will determine the transvalvular maximum and mean gradient, thus establishing disease severity and need for effort restriction [6], assuming that left ventricular function is not compromised. Associated severe aortic regurgitation will lead to an overestimation of gradients by this imaging method [7]. It is important while measuring gradients to pay an attention to the angle between the jet flow and ultrasound beam (they should be parallel) [8]. Color Doppler will reveal a turbulent flow across the valve. Transesophageal echocardiography is rarely necessary and only applicable to adolescents and adults. Exercise testing is used for risk stratification and an assessment regarding the surgical intervention. Three-dimensional echocardiography, if available, is a useful tool in congenital aortic valve stenosis [9], allowing precise valve and volumes measurement and characterization of subvalvular membranes, if present [10].

Cardiac catheterization is performed before a balloon valvuloplasty and offers information about the peak systolic gradient and left ventricular filling pressures.

The electrocardiogram could reveal left ventricular hypertrophy, left bundle branch block, ST segment depression, and negative T waves [11]. Diffuse T-wave and ST-segment changes suggest severe stenosis [12].

Holter monitoring may demonstrate the presence of ventricular arrhythmias. Magnetic resonance imaging is used in patients with poor acoustic windows and is also useful in acknowledging the presence of endocardial fibroelastosis [13] [14].

Left Axis Deviation
  • ., left axis deviation, positive Sokolow-Lyon index ) Chest x-ray Findings of left ventricular hypertrophy, such as left ventricular enlargement and rounded heart apex, usually only in decompensated aortic stenosis, and possibly left atrial enlargement[amboss.com]
Left Ventricular Hypertrophy
  • Left ventricular hypertrophy is suggested by the presence of the fourth heart sound or an increased apical impulse.[symptoma.com]
  • Echocardiography reveals atresia or dysplasia of the aortic valve most commonly associated with a bicuspid morphology, restricted left ventricular outflow, and left ventricular hypertrophy.[orpha.net]
  • Echocardiogram may also show left ventricular hypertrophy, thickened and immobile aortic valve and dilated aortic root. However, it may appear deceptively normal in acute cases.[en.wikipedia.org]
  • References: [3] [7] [4] Diagnostics ECG Nonspecific for AS Signs of left ventricular hypertrophy (e.g., left axis deviation, positive Sokolow-Lyon index ) Chest x-ray Findings of left ventricular hypertrophy, such as left ventricular enlargement and rounded[amboss.com]
  • A S4 heart sound is also often present due to the severe concentric left ventricular hypertrophy that develops in aortic stenosis.[healio.com]

Treatment

  • Children with mild aortic stenosis rarely require treatment. However, it is important to note that aortic stenosis may be progressive, and that children with mild disease may eventually require treatment later in life.[cincinnatichildrens.org]
  • GOAL: To evaluate the impact of the Ross operation, recently (1997) introduced in our unit, for the treatment of patients with congenital aortic valve stenosis.[ncbi.nlm.nih.gov]
  • Abstract In the presence of new surgical techniques, the treatment of congenital valvular aortic stenosis is under debate.[ncbi.nlm.nih.gov]
  • Many children with congenital heart defects don't need treatment, but others do. Treatment can include medicines, catheter procedures, surgery, and heart transplants.[icdlist.com]

Prognosis

  • Mortality was 16.7% but patients presenting with critical aortic stenosis had a much worse prognosis.[ncbi.nlm.nih.gov]
  • The catheter peak to peak systolic gradient is the accepted standard used for prognosis and intervention, but noninvasive correlation in pediatric patients is frequently associated with underestimation or overestimation of this gradient.[ncbi.nlm.nih.gov]
  • Without surgery, the prognosis is extremely poor, with a 3-year survival rate Circ J 2011; 75: 11-19)[doi.org]
  • It is likely that the prognosis would not be as good as that for patients with aortic stenosis with preserved left ventricular function, but it probably would be better than the prognosis for a mixed group of patients with true and pseudoaortic stenosis[doi.org]
  • MSCT may be useful in quantifying the valve area and coronary calcification, which aids in assessing prognosis.[patient.info]

Etiology

  • This article reviews the etiology, pathophysiology, diagnosis, and management of valvular AS in adults.[doi.org]
  • Classification and etiology There are numerous other predisposing factors and causes of aortic stenosis.[radiopaedia.org]
  • […] systolic pressure gradient Valve area Symptoms normal 2-4 mmHg 3-4 cm 2 Mild 25 mm Hg 1.5 cm 2 asymptomatic Moderate 25–40 mm Hg 1–1.5 cm 2 mostly asymptomatic Severe 40 mm Hg 1.0 cm 2 possibly asymptomatic Very severe 70 mm Hg 0.6 cm 2 symptomatic By etiology[amboss.com]
  • The improvement in our understanding in etiology and pathophysiology of the disease process has led to a number of trials with possible treatment options for AS.[doi.org]
  • Etiology – Aortic Stenosis The most common cause of aortic stenosis in a person over age 70 years is calcification of a normal trileaflet aortic valve; this process is sometimes referred to as “senile degeneration.”[healio.com]

Epidemiology

  • Morphological, Epidemiological, and Hereditary Aspects of Congenital Aortic Stenosis Congenital obstruction of the LVOT may involve the subvalvular, valvular, or supravalvular part of the outflow tract complex.[uscjournal.com]
  • Epidemiology Most common valvular heart disease in industrialized countries Prevalence : Increases with age May reach up to 12.4% among individuals 75 years References: [1] [2] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • Although epidemiologic studies cannot directly infer causality, our results suggest the existence of a familial component to the disease.[sciencedaily.com]
  • Sudden death in aortic stenosis : epidemiology Only 2 studies have reported the occurrence of sudden death in truly asymptomatic patients.[escardio.org]
  • Epidemiology [ 1 ] AS has become the most frequent type of valvular heart disease in Europe and North America.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • Pathophysiology of congenital AS The mechanism underlying the increase in severity of AS in children is similar to that seen in adults.[intechopen.com]
  • This study reports the case of Heyde's syndrome and discusses the pathophysiology bases and potential therapies for this syndrome.[web.archive.org]
  • Particular emphasis will be placed on pathophysiology and on the concept of afterload mismatch and preload reserve in which left ventricular function is proportionately matched to level of left ventricular pressure, mainly because such studies carry important[doi.org]
  • Pathophysiology A systolic pressure gradient between the pumping chamber and its downstream artery is the primary hemodynamic abnormality of stenosis regardless of whether the obstruction is right- or left-sided.[pedsinreview.aappublications.org]

Prevention

  • Stepwise dilatation of the stenosis does not prevent this complication. The Inoue balloon catheter offers technical advantages.[ncbi.nlm.nih.gov]
  • Prevention There are no guaranteed ways to prevent aortic valve regurgitation. If you have strep throat, get treatedbefore it progresses to rheumatic fever. Keeping your blood pressure in the healthy range is also important.[webmd.com]
  • Some possible ways to prevent aortic valve stenosis include: Taking steps to prevent rheumatic fever.[mayoclinic.com]
  • Medications There is encouraging information suggesting that cholesterol-lowering medications, such as statins, may prevent aortic valve stenosis or slow its progress in certain individuals.[web.archive.org]
  • What about preventing endocarditis? Children with AS and AI risk developing endocarditis. Children who have had their aortic valve replaced will need to take antibiotics before certain dental procedures.[heart.org]

References

Article

  1. Brown J, Ruzmetov M, Vijay P, et al. Closed transventricular aortic valvotomy for critical aortic stenosis in neonates: outcomes, risk factors, and reoperations. Ann Thorac Surg. 2006;81(1):236-242.
  2. McCrindle B, Blackstone E, Williams W. Are outcomes of surgical versus transcatheter balloon valvotomy equivalent in neonatal critical aortic stenosis? Circulation. 2001;104(12):152-158.
  3. Fratz S, Gildein HP, Balling G, et al. Aortic valvuloplasty in pediatric patients substantially postpones the need for aortic valve surgery: a single-center experience of 188 patients after up to 17.5 years of follow-up. Circulation. 2008;117:1201–1206.
  4. Pedra C, Sidhu R, McCrindle B, et al. Outcomes after balloon dilation of congenital aortic stenosis in children and adolescents. Cardiol Young. 2004;14:315–321.
  5. Reich O, Tax P, Marek J, et al. Long term results of percutaneous balloon valvoplasty of congenital aortic stenosis: independent predictors of outcome. Heart. 2004;90:70–76.
  6. Maron B, Zipes D. Introduction: eligibility recommendations for competitive athletes with cardiovascular abnormalities-general considerations. J Am Coll Cardiol. 2005;45(8):1318-1321.
  7. Villavicencio R, Forbes T, Thomas R. Pressure recovery in pediatric aortic valve stenosis. Pediatr Cardiol. 2003;24(5):457-462.
  8. Baumgartner H, Hung J, Bermejo J, et al. Echocardiographic assessment of valve stenosis: EAE/ASE recommendations for clinical practice. Eur J Echocardiogr. 2009;10(1):1-25.
  9. Acar P.Three-dimensional echocardiographic in congenital heart disease. Arch Pediatr. 2006;13(1):51-56.
  10. Rubio M, Deiros L, del Cerro M, et al. Three-dimensional echocardiography: preliminary experience in congenital cardiac disease. An Pediatr. 2008;69(2):141-146.
  11. Botto L, Correa A, Erickson J. Racial and temporal variations in the prevalence of heart defects. Pediatrics. 2001;107(3):32.
  12. Lofland G, McCrindle B, Williams W, et al. Critical aortic stenosis in the neonate: a multiinstitutional study of management, outcomes, and risk factors. J Thorac Cardiovasc Surg. 2001;121(1):10-27.
  13. Cawley P, Maki J, Otto C. Cardiovascular magnetic resonance imaging for valvar heart disease: technique and validation. Circulation. 2009;119(3):468-478.
  14. Tworetzky W, del Nido P, Powell A, et al. Usefulness of magnetic resonance imaging of left ventricular endocardial fibroelastosis in infants after fetal intervention for aortic valve stenosis. Am J Cardiol. 2005;96(11):1568-1570.

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Last updated: 2019-07-11 20:04