Skip to Main Content

++

A rare multiorgan syndrome with short stature, hypogonadism, severe mental retardation, and mitral valve prolapse.

++

Hypogonadism Mitral Valve Prolapse Mental Retardation Syndrome.

++

The exact incidence is not known, but this disorder is extremely rare.

++

Not conclusive. Both X-linked recessive and autosomal recessive inheritance have been suggested.

++

Based on clinical findings of primary hypogonadism, mitral valve prolapse, and mental retardation. Most patients with mitral valve prolapse have a midsystolic click followed by a late systolic murmur; however, echocardiography is needed to confirm the diagnosis.

++

Patients typically are obese, of short stature with a short neck, and suffer from a variable degree of mental retardation. The palate is often narrow and vaulted. Mitral regurgitation is frequent. Patients have primary hypogonadism with small and atrophic testes, delayed puberty, gynecomastia and decreased body hair. In otherwise healthy patients, symptoms of mitral valve prolapse may include fatigue, dyspnea, exercise intolerance, chest pain, headache, sleep disorders, anxiety and panic attacks, and irritable bowel signs. The etiology of these symptoms is not well understood but most likely is multifactorial, including autonomic dysfunction with adrenergic hyperresponsiveness and an abnormal renin-angiotensin-aldosterone response to volume depletion. Patients often present with a low resting blood pressure, which seems to be associated with low intravascular volume that may often lead to dizziness and syncope.

++

Cardiac arrhythmias are common (88%) in asymptomatic pediatric patients with mitral valve prolapse. At least a 12-lead electrocardiogram and/or preferably a Holter monitoring (24 hours) are recommended preoperatively. Antiarrhythmic therapy may be required. Electrolytes, particularly magnesium, should be checked and normalized if necessary. Cardiac function and the severity of mitral regurgitation should be assessed by echocardiography.

++

Be aware of the possibility of cardiac arrhythmias. Obesity implies decreased functional residual capacity and less reserve for hypoxia, increased airway pressures, difficult vascular access, and a higher overall rate of postoperative complications. Potentially difficult direct laryngoscopy. In the presence of significant mitral incompetence, goal-directed hemodynamic management should be considered.

++

Subacute bacterial endocarditis prophylaxis is usually recommended if mitral valve prolapse is associated with thickened leaflets and/or mitral regurgitation.

Bobkowski W, Siwinska A, Gorzna H, et al: Dysrhythmias documented by 48-hour electrocardiographic monitoring in children with mitral valve prolapse. Pediatr Pol 71:493, 1996.  [PubMed: 8756766]
Cantalamessa L, Baldini M, Ambrosi B, et al: A syndrome of primary gonadal failure, short stature, mitral valve prolapse, and mental retardation. Am J Med Genet 33:117, 1989.  [PubMed: 2502012]

Want remote access to your institution's subscription?

Sign in to your MyAccess profile while you are actively authenticated on this site via your institution (you will be able to verify this by looking at the top right corner of the screen - if you see your institution's name, you are authenticated). Once logged in to your MyAccess profile, you will be able to access your institution's subscription for 90 days from any location. You must be logged in while authenticated at least once every 90 days to maintain this remote access.

Ok

Create a Free MyAccess Profile

* Required Fields

Note: If you have registered for a MyAccess profile on any of the Access sites, you can use the same MyAccess login credentials across all sites.

Passwords must be between 6 and 40 characters long (no whitespace), cannot contain characters #, &, and must contain:
  • at least one lowercase letter
  • at least one uppercase letter
  • at least one digit

Benefits of a MyAccess Profile:

  • Remote access to the site off-campus on any device
  • Notification of new content via custom alerts
  • Bookmark your favorite content such as chapters, figures, tables, videos, cases and more
  • Save and download images to PowerPoint
  • Self-Assessment quizzes saved for quick review
  • Custom Curriculum access for both instructors and learners

Subscription Options

AccessAnesthesiology Full Site: One-Year Subscription

Connect to the full suite of AccessAnesthesiology content and resources including procedural videos, interactive self-assessment, real-life cases, 20+ textbooks, and more

$995 USD
Buy Now

Pay Per View: Timed Access to all of AccessAnesthesiology

24 Hour Subscription $34.95

Buy Now

48 Hour Subscription $54.95

Buy Now

Pop-up div Successfully Displayed

This div only appears when the trigger link is hovered over. Otherwise it is hidden from view.