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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]

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