eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Cardiology

Mitral Valve Prolapse: Differential Diagnoses & Workup

Author: Poothirikovil Venugopalan, MBBS, MD, FRCP (Glasg), FRCPCH, Consulting Staff, Department of Child Health, University Hospital of Hartlepool, UK
Contributor Information and Disclosures

Updated: Oct 8, 2008

Differential Diagnoses

Mitral Stenosis, Acquired
Mitral Stenosis, Congenital
Mitral Valve Insufficiency

Other Problems to Be Considered

Congenital mitral regurgitation
Dilated cardiomyopathy
Hypertrophic cardiomyopathy
Rheumatic mitral regurgitation
Tricuspid valve prolapse

Workup

Laboratory Studies

  • In patients with mitral valve prolapse (MVP), perform blood and other laboratory tests as dictated by the condition of the patient.

Imaging Studies

  • Radiography
    • Chest radiography findings are normal. Cardiac size and pulmonary venous congestion appear when mitral regurgitation (MR) is severe.
    • Skeletal surveys reveal any abnormalities.
  • Echo-Doppler studies
    • This is an essential tool to identify the presence and magnitude of mitral valve prolapse, the thickness of mitral valve leaflets, mitral annulus size, chordae tendineae length, and left ventricular and left atrial size and function. The test also reveals any associated heart diseases.6
    • Multiple views of the mitral valve annulus are essential, and the echo-Doppler findings have to be correlated with clinical data.
    • Two-dimensional, real-time echocardiographic pictures from parasternal long-axis window reveal the mitral valve leaflets coming together in systole and billowing into the left atrium beyond the atrioventricular junction. The medial aspect of the anterior leaflet and middle scallop of the posterior leaflet are visualized from this view. The lateral scallop of posterior leaflet can be seen only from the apical 4-chamber window, and, at times, mitral valve prolapse can be focal. The echocardiographic description of the mitral valve prolapse should include structural changes, such as leaflet thickening, redundancy, annular dilatation, and chordal elongation. A varying degree of noncoaptation of the leaflets is present, and MR can be identified by Doppler-color, pulse wave, and continuous wave. The MR jet can be defined, and its magnitude and direction estimated. The size of the left atrium and left ventricle are increased in the presence of moderate-to-severe MR.
    • Three-dimensional echocardiography is reportedly very helpful in delineating the prolapse and associated regurgitation. Segmental analysis of the mitral valve leaflets has been as successful with this technique as with transesophageal echocardiography.7,8 It has also been reported to provide information that helps in surgical repair.
    • Transesophageal echocardiography has also improved the identification of leaflet morphology, assisting surgical repair.
    • M-mode echocardiography reveals a characteristic posterior movement of the posterior mitral leaflet during mid or late systole or pansystolic prolapse of both anterior and posterior mitral leaflets toward the left atrium. With the availability of 2-dimensional and Doppler studies, mitral valve prolapse should no longer be diagnosed solely on M-mode pictures.
    • These studies, particularly transesophageal echocardiography, also help identify potential embolic sources in patients with focal neurologic symptoms or signs.
    • Findings are always interpreted in the context of the clinical evaluation by dynamic auscultation. The diagnostic accuracy improves by use of a constellation of findings, which include structural and functional changes. Patients with echocardiographic criteria for mitral valve prolapse, without evidence of thickened redundant leaflets or significant MR, require careful review before mitral valve prolapse is diagnosed. Mere sagging of anterior leaflet in the 4-chamber view does not indicate mitral valve prolapse. Patients with typical auscultatory findings may be diagnosed even with questionable echocardiographic findings.
    • Rarely, patients with mitral valve prolapse may have typical echocardiographic findings but no abnormality on auscultation. Patients with suggestive symptoms and no auscultatory findings, who have nonspecific echocardiographic changes, present a real challenge and may require periodic reevaluation before a firm diagnosis can be made. Family history could be of help in some of these patients.
  • Stress scintigraphy: Myocardial perfusion scintigraphy (eg, using thallium-201) during exercise may help identify the rare patient with mitral valve prolapse and myocardial ischemia.

Other Tests

  • Electrocardiography
    • Results are usually normal; however, in about one half of children and adolescents, the findings may reveal inverted or biphasic T waves, especially in leads II, III, aVF, and/or V5-6. The T-wave abnormalities may vary at different times in the same patient and may improve with exercise or with beta-blocker therapy.
    • Arrhythmias described at rest or during exercise include premature atrial (23.6%) or ventricular (27.3%) contractions, supraventricular tachycardia, and conduction abnormalities. Patients with mitral valve prolapse demonstrate a higher frequency of left-sided accessory pathways. More serious findings include ventricular tachycardia and fibrillation.
    • A higher incidence of arrhythmia may be due to a prolonged QT interval. Diastolic depolarization of muscle fibers in the anterior mitral leaflet in response to stretch may also have a role.
    • Slow response action potentials originating in the atrial-like muscle fibers in the mitral valve leaflets can lead to sustained rhythmic action that penetrates the cardiac chambers.
  • Phonocardiography: This was previously used as an adjunct to confirm the auscultatory findings.

Procedures

  • Ambulatory 24-hour electrocardiography
    • A Holter monitor may help identify the nature and frequency of arrhythmic activity.
    • Premature ventricular beats (38%), multiform couplets, and tachyarrhythmias (8%) are usual findings.
  • Exercise testing
    • This is useful in patients with palpitations and exercise-related symptoms.
    • Premature ventricular beats (16%), ventricular tachycardia (4%), and supraventricular ectopy are common findings. Ventricular fibrillation is a rare finding.
  • Cardiac catheterization and angiography
    • These tests are generally restricted to patients with mitral valve prolapse and severe MR who may require valve repair or replacement.
    • Associated coronary artery disease can also be confirmed or excluded.
    • A left ventricular angiogram, obtained in the right anterior oblique view, best shows the posterior leaflet. A left anterior oblique projection reveals the anterior leaflet.
    • Other abnormalities that may be revealed include dilatation, decreased systolic contraction, calcification of the mitral annulus, and poor contraction of the basal portion of the left ventricle.
  • Electrophysiology
    • Indications for electrophysiology (EPS) are similar to those in general clinical practice.
    • EPS is useful in the presence of supraventricular tachycardia because accessory atrioventricular pathways are common in patients with mitral valve prolapse. In this subset of patients, EPS is important because radiofrequency ablation can be performed during the same procedure, with a very high curative success rate.
  • Tilt test: Upright tilt studies with blood pressure and cardiac rhythm monitoring may be valuable in patients with light-headedness or syncope when vasodepressor-vasovagal reaction is suspected and confirmation of clinical symptoms is desired.

Histologic Findings

  • Mitral valves excised from patients with severe MR secondary to mitral valve prolapse have large leaflets and show various alterations.
  • The most specific, fundamental, and characteristic histologic changes are (1) collagen dissolution and disruption in the pars fibrosa of the mitral valve leaflet and (2) replacement of the dense collagenous fibrosa by loose myxomatous connective tissue with high acid mucopolysaccharide content. Similar histologic abnormalities are observed in chordae tendineae.
  • Scanning electron photomicrographs demonstrate surface folds and focal loss of endothelial cells on mitral valve leaflets obtained from patients with severe mitral valve prolapse and significant MR. These surface abnormalities may predispose to thromboembolic complications and/or infectious endocarditis.
  • Continuous pressure and stress on the leaflets and chordae tendineae during left ventricular systole contribute to gradual progression of these histologic changes.

More on Mitral Valve Prolapse

Overview: Mitral Valve Prolapse
Differential Diagnoses & Workup: Mitral Valve Prolapse
Treatment & Medication: Mitral Valve Prolapse
Follow-up: Mitral Valve Prolapse
Multimedia: Mitral Valve Prolapse
References
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References

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Further Reading

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Keywords

mitral valve prolapse, Barlow syndrome, billowing mitral valve syndrome, Da Costa syndrome, effort syndrome, familial MVP, floppy mitral valve syndrome, irritable heart syndrome, myxomatous mitral valve, neuro-circulatory asthenia, redundant cusp syndrome, soldier heart syndrome, systolic click-murmur syndrome, mitral regurgitation, heart failure, Marfan syndrome, Ehlers-Danlos syndrome, rheumatic fever, endocarditis, myocardial infarction, ischemia, syncope supraventricular tachycardia, ventricular tachycardia, ventricular fibrillation, cardiac arrhythmia, panic attacks, presyncope, Stickler syndrome

polycystic kidney disease, osteogenesis imperfecta, fragile X syndrome, Martin-Bell syndrome, pseudoxanthoma elasticum, periarteritis nodosa, asthenic habitus, straight back syndrome, pectus excavatum, pectus carinatum, atrial septal defect ostium secundum, tricuspid valve prolapse, aortic valve prolapse, Ebstein anomaly, Holt-Oram syndrome, hypertrophic cardiomyopathy, Graves disease, thyroiditis, sickle cell disease, muscular dystrophy, myotonic dystrophy, Von Willebrand disease, magnesium deficiency

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Contributor Information and Disclosures

Author

Poothirikovil Venugopalan, MBBS, MD, FRCP (Glasg), FRCPCH, Consulting Staff, Department of Child Health, University Hospital of Hartlepool, UK
Poothirikovil Venugopalan, MBBS, MD, FRCP (Glasg), FRCPCH is a member of the following medical societies: British Cardiac Society, Royal College of Paediatrics and Child Health, and Royal College of Physicians and Surgeons of Glasgow
Disclosure: Nothing to disclose.

Medical Editor

Charles I Berul, MD, Associate Professor of Pediatrics, Harvard Medical School; Senior Associate, Department of Cardiology, Children's Hospital of Boston
Charles I Berul, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, Heart Rhythm Society, and Society for Pediatric Research
Disclosure: Nothing to disclose.

Pharmacy Editor

Mary L Windle, PharmD, Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy, Pharmacy Editor, eMedicine
Disclosure: Pfizer Inc Stock Investment from broker recommendation; Avanir Pharma Stock Investment from broker recommendation

Managing Editor

Julian M Stewart, MD, PhD, Associate Chairman of Pediatrics, Director, Center for Hypotension, Westchester Medical Center; Professor of Pediatrics and Physiology, New York Medical College
Julian M Stewart, MD, PhD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

CME Editor

Gilbert Herzberg, MD, Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College
Gilbert Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics
Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD, Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin
Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, and Society for Cardiac Angiography and Interventions
Disclosure: Nothing to disclose.

 
 
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