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Mitral Valve Atresia

Mitral valve atresia is an infrequent congenital heart malformation, part of the hypoplastic left heart syndrome. The syndrome is complete when the aortic valve is also atretic. By itself, mitral valve atresia is always accompanied by a small left ventricle and is caused by septal malalignement, excessive growth of the endocardial cushions or atrioventricular canal defect. The small left ventricle is incapable to offer appropriate systemic output, resulting in early heart failure.


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].

  • Additional findings include those of cardiogenic shock, like hypothermia, tachycardia, anuria and hepatosplenomegaly.[symptoma.com]
Heart Disease
  • Examines issues affecting adults with congenital heart disease.[books.google.com]
  • Disease and Heart Disease in Pregnancy, Kaiser Foundation Hospitals, Panorama City, California, USA[books.google.com]
  • Disease progression is variable based on the severity of the congenital heart disease and the response to medication and surgical interventions.[secure.ssa.gov]
  • They are: chronic heart failure (listing 4.02) ischemic heart disease (listing 4.04) recurrent arrhythmias (listing 4.05), and symptomatic congenital heart disease (4.06).[disabilitysecrets.com]
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]
  • murmur sweating, especially during feedings a weaker pulse If you notice any of these signs in your baby or child, call your doctor right away.[kidshealth.org]
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]
  • Additional findings include those of cardiogenic shock, like hypothermia, tachycardia, anuria and hepatosplenomegaly.[symptoma.com]
  • […] malformations of female genitalia Congenital malformations of the internal genitalia Congenital malformations associated with congenital malformations of urinary system Congenital malformations of the vulva Congenital malformations of the male genital organs Cryptorchidism[atlases.muni.cz]
  • 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.[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.

Right Axis Deviation
  • 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.[symptoma.com]
  • […] anomalies Club foot Constriction (amniotic) band syndrome Placental inflammation Ascending infections Placental inflammation, acute Hematogenous infections Fetomaternal listeriosis Pathology of the fetal membranes Amniotic band syndrome Meconium staining Candida[atlases.muni.cz]


  • Their multidisciplinary approach encompasses every aspect of the relevant basic scientific principles, medical and pharmacologic treatments, and surgical techniques and equipment.[books.google.com]
  • Diagnostic possibilities, options for medical and surgical treatment and a history of their evolution are looked into and the book also gives an insight into the longer-term effects that treatment has on the child and its family.[books.google.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]
  • There is no specific treatment. Received May 18, 1959. Accepted August 13, 1959.[pediatrics.aappublications.org]
  • In the short term, children with mild to moderate mitral valve stenosis may not need any treatment other than routine monitoring by his or her doctor. As long as the child is not displaying symptoms, no treatment may be necessary.[stlouischildrens.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]
  • Treatment and prognosis The decision to treat mitral stenosis is based on the severity and presence of complications.[radiopaedia.org]
  • The postnatal prognosis depends on the anatomy of the great vessels.[sonoworld.com]


  • […] concerning 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]
  • 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]


  • DORV is not a single malformation from a pathophysiological point of view.[sonoworld.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]
  • The leaflets also close to prevent blood from flowing backward into the heart. In some babies with pulmonary atresia, the right ventricle of the heart, the pulmonary artery, and the tricuspid valve may be underdeveloped.[my.clevelandclinic.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.

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Last updated: 2019-07-11 21:11