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KEY FEATURES

ESSENTIALS OF DIAGNOSIS

  • Tall stature with disproportionately long limbs

  • Ectopia lentis

  • Aortic aneurysms, dissection, and aortic regurgitation

  • Mitral valve prolapse with regurgitation

GENERAL CONSIDERATIONS

  • Autosomal dominant disorder (1 per 5000–10,000) with multisystem involvement

  • Affects the skeleton (long thin extremities), eye (ectopia lentis), and cardiovascular system (aortic aneurysms) from mutation in a gene on chromosome 15 that encodes fibrillin

  • Mitral valve prolapse secondary to redundancy of the leaflets and the chordae (in 60–80%)

  • Severe mitral regurgitation in 25% of patients

  • Aortic root dilatation and aortic regurgitation

  • Ascending aorta occurs with increasing frequency at a diameter of 50 mm

  • Pregnancy increases the risk of dissection, particularly in the third trimester

    • – Low risk if root diameter is < 40 mm

CLINICAL PRESENTATION

SYMPTOMS AND SIGNS

  • Chest pain, back pain

  • Dyspnea, fatigue

  • Palpitations

PHYSICAL EXAM FINDINGS

  • Diastolic murmur of aortic regurgitation

  • Midsystolic click and late systolic murmur of mitral valve prolapse

  • Tall stature, limbs disproportionately long, arm span > height

  • Pectus carinatum and scoliosis

  • Arachnodactyly

  • Ratio of upper body height to lower body height < 0.93 (divided at symphysis pubis)

  • High, arched palate

  • Ectopia lentis

DIFFERENTIAL DIAGNOSIS

  • Loeys-Dietz syndrome

  • Ehlers-Danlos syndrome

  • Shprintzen-Goldberg syndrome

  • Familial aortic aneurysm

DIAGNOSTIC EVALUATION

LABORATORY TESTS

  • Presence of an FNB1 gene mutation (fibrillin gene)

ELECTROCARDIOGRAPHY

  • Signs of left heart chamber enlargement

IMAGING STUDIES

  • Echocardiographic findings that may be seen:

    • – Aortic root dilation involving the sinuses of Valsalva

    • – Aortic dissection

    • – Mitral valve prolapse

    • – Calcified mitral annulus

    • – Dilated main pulmonary artery

    • – Aortic regurgitation

  • MRI or CT: ideal for imaging aortic aneurysms and dissection

DIAGNOSTIC PROCEDURES

  • Slit-lamp exam of the eyes for lens dislocation

TREATMENT

CARDIOLOGY REFERRAL

  • Suspected cardiovascular involvement

  • Pregnancy

  • Aortic dissection

HOSPITALIZATION CRITERIA

  • Aortic dissection

  • Heart failure

  • Significant arrhythmias

MEDICATIONS

  • Beta blockers to prevent or delay aortic root dilatation (recommended but efficacy not established)

  • Angiotensin receptor blockers to prevent aortic root dilatation have shown promise, but there are no clear guidelines at this point.

SURGERY

  • Surgical replacement of aorta with preservation of native aortic valve (either prophylactic at aortic root diameter of > 50 mm or treatment for dissection)

  • Mitral valve surgery if mitral regurgitation is severe and patient has symptoms

MONITORING

  • ECG monitoring in hospital as appropriate

DIET AND ACTIVITY

  • Restriction from heavy weight lifting and contact sports

  • Low-sodium, low-fat diet

ONGOING MANAGEMENT

HOSPITAL ...

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