Presentation depends on heart anatomy and associated abnormalities: anomalies of other valves, coarctation of the aorta, transposition of the great arteries, patent ductus arteriosus or other systemic-pulmonary circulation shunts. The pulmonary artery may be hypoplastic and the abnormalities are sometimes diagnosed in utero [1].

During childhood, the physician will notice dyspnea, central cyanosis, weak peripheral pulses and heart failure signs. Symptoms may set in early and may be severe, therefore the baby needs to be delivered in a center that can immediately address the condition, if the diagnosis is known before birth [2]. The child grows normally in utero, but failure to thrive is noticed after delivery. Cyanosis sets in soon if the foramen ovale is small or closed, but may be absent in the newborn period. The closure of the ductus arteriosus marks a turning point in the child's presentation. He or she may become pale, may exhibit tachypnea, respiratory distress, lethargy and oliguria at this time. Additional findings include those of cardiogenic shock, like hypothermia, tachycardia, anuria and hepatosplenomegaly. A diastolic rumble over the entire precordial area or a high-pitched holosystolic murmur over the inferior portion of the left sternal border may be auscultated, but their presence is not mandatory [3]. The precordium may be hyperactive.

After the malformation has been surgically addressed, the clinical examination should focus on the cardiovascular and neurologic symptoms, because patients often exhibit seizures [4]. Stroke and intracranial hemorrhage are also possibilities [5], as are phrenic and recurrent laryngeal nerve injury [6].

• Fever

  Causes Causes of mitral valve stenosis include: Rheumatic fever. A complication of strep throat, rheumatic fever can damage the mitral valve. Rheumatic fever is the most common cause of mitral valve stenosis. [mayoclinic.org]

  Mitral stenosis is almost always the result of rheumatic fever. [adventistheart.org]

  Causes of this condition include: Rheumatic fever : A complication of strep throat, rheumatic fever can damage the mitral valve. Rheumatic fever is the most common cause of mitral valve stenosis. [stlouischildrens.org]

  Mitral stenosis is seen more commonly in women and in countries, generally developing nations, where rheumatic fever is common 1. [radiopaedia.org]

  FreeThesaurus.com https://www.freethesaurus.com/mitral+atresia (redirected from mitral atresia ) Also found in: Dictionary, Medical, Encyclopedia. noun Synonyms for mitral stenosis obstruction or narrowing of the mitral valve (as by scarring from rheumatic fever [freethesaurus.com]

• Anemia

  Hemoglobin levels should be investigated, because anemia can also cause high-output congestive heart failure. A constant characteristic of mitral valve atresia is severe metabolic acidosis, that often becomes worse after oxygen administration. [symptoma.com]

  Patients with mitral stenosis characteristically present with progressive dyspnea that is precipitated by sudden changes in heart rate, volume status or cardiac output (e.g. physical exertion, fever, emotional stress, anemia, atrial fibrillation, pregnancy [radiopaedia.org]

  Blood volume expands during pregnancy, and plasma volume increases far more than the erythrocyte volume, resulting in relative anemia of pregnancy. [glowm.com]

  Cardiac size and function in children with sickle cell anemia. Am Heart J. 1984 Aug. 108(2):345-50. [Medline]. Bharati S, Lev M. The surgical anatomy of hypoplasia of aortic tract complex. J Thorac Cardiovasc Surg. 1984 Jul. 88(1):97-101. [Medline]. [emedicine.medscape.com]

• Hypoxemia

  These can include an abnormal heart sound during a heartbeat (heart murmur), rapid breathing (tachypnea), low blood pressure (hypotension), low levels of oxygen in the blood (hypoxemia), and a blue or purple tint to the skin caused by a shortage of oxygen [icdlist.com]

  This may result in hypoxemia. A delicate balance between pulmonary and systemic vascular resistances should be maintained to ensure adequate oxygenation and tissue perfusion. [emedicine.medscape.com]

  Right-to-left shunting may increase, thus worsening hypoxemia. 65 For women presenting in the first trimester of pregnancy, termination should be considered for the sake of maternal health. [glowm.com]

• Pathologist

  This book provides the ultimate reference for anyone treating children with this heart condition, particularly paediatric cardiac clinical and nursing teams, radiologists and radiographers, obstetric medical and nursing teams, psychologists, pathologists [books.google.com]

• Trisomy 21

  In most cases of Trisomy 21, the chromosome 21 pair did not separate properly and both chromosomes were transmitted into the egg or sperm. [genetics.emory.edu]

• Heart Disease

  Aortic Valve Atresia, Atrial Septal Defect, Heart Disease Congenital, Hypoplastic Left Heart Syndrome, Mitral Valve Atresia, Univentricular Heart A patient from UNITED STATES was prescribed and started Kaletra on Nov 24, 2009. [patientsville.com]

  Examines issues affecting adults with congenital heart disease. [books.google.com]

  Disease : acută Pericardita și Miocardita Reumatice Heart Disease : acuta valvulara Implicarea Reumatice Heart Disease : Modificări reziduale de acută reumatice cardita Reumatice Heart Disease : mitrală Stenoza : anatomie patologica Reumatice Heart Disease [euro-libris.ro]

• Heart Murmur

  Is a heart murmur valve disease? A heart murmur is simply the sound created by a heart valve that is not functioning correctly. [adventistheart.org]

  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]

  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]

  Your child's physician may have also heard a heart murmur during a physical examination. A heart murmur is simply a noise caused by the turbulence of blood flowing through the openings that allow the blood to mix. [cincinnatichildrens.org]

  Heart sounds and murmurs: High-pitched pansystolic murmur, most prominent in the fourth intercostal space in the left parasternal region. In the absence of pulmonary hypertension, the murmur is usually low-intensity and early systolic. [patient.info]

• Diastolic Murmur

  Clinical examination classically reveals a malar flush ('mitral facies') due to cutaneous vasoconstriction, and a mid-diastolic murmur that is heard on praecordial auscultation 2,3. [radiopaedia.org]

  A low rumbling diastolic murmur along the left sternal border, which increases with inspiration. Tricuspid regurgitation is often also present, causing a pansystolic murmur in a similar location. [patient.info]

  Presystolic accentuation of diastolic murmur disappears. Embolic manifestations may appear. [en.wikipedia.org]

  Further Investigation Bradycardia (pulse Tachycardia (pulse >150 beats/min) Jugular venous distention Cardiomegaly Right ventricular heave Loud pulmonic component of S2 Summation gallop Loud systolic murmur (3–6/6) Diastolic murmur Cyanosis or clubbing [glowm.com]

• Seizure

  After the malformation has been surgically addressed, the clinical examination should focus on the cardiovascular and neurologic symptoms, because patients often exhibit seizures. [symptoma.com]

Blood workup should include a complete cell blood count with differential, in order to exclude sepsis, that can cause similar symptoms. Hemoglobin levels should be investigated, because anemia can also cause high-output congestive heart failure. A constant characteristic of mitral valve atresia is severe metabolic acidosis, that often becomes worse after oxygen administration. Acid-base status, lactic acid and electrolyte levels measurement are mandatory. Renal failure secondary to heart failure is assessed by blood urea nitrogen and creatinine levels. Transient hepatic cytolysis is sometimes observed. Arterial oxygen and carbon dioxide determination help set mechanical ventilation parameters.

A hypoplastic left ventricle causes right axis deviation on the electrocardiogram. Right ventricular hypertrophy and right atrial enlargement patterns, as well as ST-T wave modifications can sometimes be recognized.

Thoracic radiography shows cardiomegaly and increased pulmonary vascular markings, but echocardiography helps to achieve the final diagnosis. This method accurately delineates the morphology of the mitral valve and the presence of an anterograde or retrograde flow, the function of the aortic valve, the size of both ventricles and the presence of interatrial and interventricular communications and their restrictive or non-restrictive character. The examiner is able to describe the position, the dimensions and the origin of the great arteries. Tricuspid regurgitation is considered to be a preoperative risk factor.

An abdominal ultrasound examination may describe polysplenia, asplenia or a normal spleen. Cerebral abnormalities should be investigated using a head ultrasound [7].

Cardiac catheterization is necessary in cases where echocardiography cannot answer all the questions. It can also be used in order to measure saturation in all four cardiac chambers, chamber pressures and pulmonary vascular resistance. The presence of aortopulmonary collateral vessels should also be investigated on that occasion [8].

Cytogenetic abnormalities and heterozygous mutations have been described by several authors [9] [10]. If suspicion is raised, a karyotype analysis may be performed.

Their multidisciplinary approach encompasses every aspect of the relevant basic scientific principles, medical and pharmacologic treatments, and surgical techniques and equipment. [books.google.com]

This side effect report can indicate a possible existence of increased vulnerability to Kaletra treatment in patients suffering from NA, resulting in Mitral Valve Atresia. [patientsville.com]

ICD-9: 746.89 TREATMENT The treatment of mitral valve atresia is based on the severity of the condition. Infants are usually treated with staged surgical interventions and medications. [secure.ssa.gov]

[…] more information about mitral valve repair, replacement, and treatment visit our Mitral Valve Repair and Treatment page. [uofmhealth.org]

Prognosis Prognosis is generally good but dependent on the prognosis of the underlying disease, associated other heart abnormalities and associated arrhythmias. Tricuspid regurgitation [ 1 ] The incidence of TR is less than 1%. [patient.info]

Patients with a prenatal diagnosis of MVDS have previously been reported to have an extremely poor prognosis with a high rate of fetal demise and neonatal death. [fetalheartsociety.org]

Right-to-left commissures have worse prognosis in bicuspid aortic than anteroposterior commissures in developing aortic stenosis. Also eccentric orifices have worse prognosis than central orifices in developing aortic stenosis. [pedcard.rush.edu]

Treatment and prognosis The decision to treat mitral stenosis is based on the severity and presence of complications. [radiopaedia.org]

High Aristotle scores are also associated with poor prognosis. [emedicine.medscape.com]

Etiology In addition to being a sequela of rheumatic fever, which is the most common cause world-wide, there are numerous other causes 2-4 : mitral annular calcification with leaflet involvement an age-related cause congenital mitral stenosis infective [radiopaedia.org]

Etiology and morphogenesis of Congenital Heart Disease. Futura, Mount Kisco, NY 1980 ; 421 – 487. 15 VanPraagh, S, Vangi, V, Sul, JH, Metras, D, Parness, I, Castaneda, AR, Van Praagh, R. [cambridge.org]

[…] dermatopathology and pathology + Atlas of fetal pathology + Congenital malformations + Physiological developement of an embryo and fetus, growth and changes of the external shape + Congenital malformations and congenital anomalies + Basic terminology + Etiology [atlases.muni.cz]

Anomalies of the Aortic Arch System: Coarctation of Aorta Endocardial Fibroelastosis and Glycogen Storage Disease Section 6 - Acquired Heart Disease ISCHEMIC HEART DISEASE Structure of Coronary Arteries Pathogenesis of Atherosclerosis Risk Factors in Etiology [euro-libris.ro]

Valvular heart disease, despite the etiology, is discussed later. Potential complications are summarized in Table 7. The clinical differences between rheumatic or congenital etiology are highlighted. [glowm.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

[…] cause is misalignment of the atrial septum to the left. [18] More recent studies suggest that hypoplastic left heart syndrome is genetically heterogeneous and hypoplastic left heart syndrome and bicuspid aortic valve are genetically related. [19, 20] Epidemiology [emedicine.medscape.com]

Grasp the full scope of the pathophysiology of CHD with well-organized, expert guidance. Quickly search the contents online, download images in JPG or PPT format, and view 70 echocardiogram videos at expertconsult.com. [books.google.com]

Principal Sites of Embolism from Left Artial Thrombosis Rheumatic Heart Disease: Mitral Stenosis: Thromboembolic Complications: Mitral Balloon Valvuloplasty Rheumatic Heart Disease: Mitral Regurgitation Rheumatic Heart Disease: Mitral Regurgitation: Pathophysiology [euro-libris.ro]

Pathophysiology [ edit ] Intracardiac pressure measurements in an individual with severe mitral stenosis. Pressure tracings in the left atrium (LA) and the left ventricle (LV) in an individual with severe mitral stenosis. [en.wikipedia.org]

DORV is not a single malformation from a pathophysiological point of view. [sonoworld.com]

Severely hypoplastic left ventricle can be present in hearts with double-outlet right ventricle and common atrioventricular canal; in some studies, these variants constitute as many as 25% of hypoplastic left heart syndrome cases. [12] Pathophysiology [emedicine.medscape.com]

The anomalies are organized by anatomical system and presented in a consistent manner, including details of the clinical presentation, epidemiology, embryology, treatment and prevention for each anomaly. [books.google.com]

Prevention The best way to prevent mitral valve stenosis is to prevent its most common cause, rheumatic fever. You can do this by making sure you and your children see your doctor for sore throats. [mayoclinic.org]

Endocarditis Prevention Antibiotics to prevent endocarditis are needed before certain dental procedures. See the section on Endocarditis for more information. [heart.org]

While they can't be prevented, many treatments are available for the defects and related health problems. [kidshealth.org]

Simple preventive measures can often prevent worsening of heart murmurs. [adventistheart.org]

1. McMahon CJ, Morgan CT, Walsh KP. Transcatheter left ventricular outflow tract stent placement in a low birth weight child with hypoplastic left ventricle, mitral atresia, transposition of the great arteries, ventricular septal defect and severe pulmonary stenosis. Catheter Cardiovasc Interv. 2014;83:E82–4.
2. Galindo A, Nieto O, Villagra S, et al. Hypoplastic left heart syndrome diagnosed in fetal life: associated findings, pregnancy outcome and results of palliative surgery. Ultrasound Obstet Gynecol. 2009;33(5):560-6.
3. Norwood WI, Kirklin JK, Sanders SP. Hypoplastic left heart syndrome: experience with palliative surgery. Am J Cardiol. 1980;45(1):87-91.
4. Wernovsky G, Kuijpers M, Van Rossem MC, et al. Postoperative course in the cardiac intensive care unit following the first stage of Norwood reconstruction. Cardiol Young 2007;17:652–65.
5. Tweddell JS, Ghanayem NS, Mussatto KA, et al. Mixed venous oxygen saturation monitoring after stage 1 palliation for hypoplastic left heart syndrome. Ann Thorac Surg. 2007;84:1301–11.
6. Skinner ML, Halstead LA, Rubinstein CS, et al. Laryngopharyngeal dysfunction after the Norwood procedure. J Thorac Cardiovasc Surg. 2005;130:1293–301.
7. Glauser TA, Rorke LB, Weinberg PM, et al. Congenital brain anomalies associated with the hypoplastic left heart syndrome. Pediatrics. 1990; 85(6):984-90.
8. Siblini G, Rao PS. Coil Embolization in the Management of Cardiac Problems in Children. J Invasive Cardiol. 1996;8(7):332-40.
9. Ye M, Coldren C, Lai L, et al. Deletion of ETS-1, a gene in the Jacobsen syndrome critical region, causes ventricular septal defects and abnormal ventricular morphology in mice. Hum Mol Genet. 2010;19:648–656.
10. Grossfeld PD, Mattina T, Lai Z, et al. The 11q terminal deletion disorder: a prospective study of 110 cases. Am J Med Genet A. 2004; 129A:51–61.