A rare multiorgan syndrome with short stature,
hypogonadism, severe mental retardation, and mitral valve prolapse.
Hypogonadism Mitral Valve Prolapse Mental Retardation
The exact incidence is not known, but this disorder is
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
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