Updated: 2/17/2019

Marfan Syndrome

0%
Topic
Review Topic
0
0
N/A
N/A
Questions
3
0
0
100%
0%
Videos / Pods
2
Topic
Snapshot
  • A 32-year-old man presents to the emergency room for sudden onset of severe chest pain that radiates down his back. Physical exam reveals a tall and thin habitus, arachnodactyly, and pectus excavatum. Radiography shows widened mediastinum, concerning for an aortic dissection.
Overview
Introduction
  • Clinical definition
    • inherited connective tissue disorder characterized by aortic abnormalities and musculoskeletal deformities
  • Epidemiology
    • demographics
      • clinical manifestations typically occur in adulthood
  • Pathogenesis
    • fibrillins form a major part of connective tissues and provide structural support and elasticity to blood vessels, skin, and bones
    • abnormalities in fibrillin can result in
      • aortic abnormalities (cystic medial necrosis)
      • ectopic lens (structural weakness in ligaments of the lens)
      • skeletal deformities
  • Genetics
    • inheritance pattern
      • autosomal dominant
    • mutations
      • FBN1 gene is on chromosome 15 and encodes fibrillin-1, a glycoprotein that forms a protective sheath around elastin
        • elastin is found in multiple parts of the body, including large arteries, skin, lungs, and ligaments
  • Prognosis
    • survival has improved with better management of aortic disease
    • with early diagnosis and management, patients often have a normal life expectancy
Presentation
  • Symptoms
    • aortic dilation, aneurysm, or dissection
      • dissection will present as acute severe retrosternal chest pain radiating to the back
    • pneumothorax
  • Physical exam
    • skeletal 
      • tall and thin stature
      • long extremities
        • arm span exceeds height
      • long fingers and toes (arachnodactyly)
        • thumbnail protrudes beyond ulnar border of hand when crossed (thumb sign)
        • thumb and little finger can encircle wrist (wrist sign)
      • pectus carinatum or excavatum
      • scoliosis
      • hypermobile joints
    • ocular
      • subluxation of lenses (superior and temporal)
    • cardiovascular
      • mitral valve prolapse
        • mid-systolic click followed by a late systolic murmur
      • aortic regurgitation
        • diastolic murmur
      • mitral regurgitation
        • high-pitched holosystolic murmur
Imaging
  • Transthoracic echocardiography
    • indication
      • for all patients to evaluate for cardiac involvement
    • findings
      • mitral or aortic valve abnormalities
      • aortic aneurysm or dissection
Studies
  • Making the diagnosis
    • based on clinical presentation
    • genetic testing is not always necessary but is diagnostic
Differential
  • Homocystinuria
    • distinguishing factor
      • lens subluxation is downwards
      • mental retardation
  • Ehlers-Danlos syndrome 
    • distinguishing factor
      • hyperextensible skin and easy bruising
      • middle-sized artery aneurysms > aortic aneurysms
Treatment
  • Management approach
    • no curative treatment exists, so treatment is targeted at symptoms
  • Conservative
    • avoid high-impact contact sports
      • indication
        • for all patients
  • Medical
    • β-blockers or angiotensin receptor blockers
      • indications
        • to halt the progression of aortic root dilation
  • Operative
    • aortic aneurysm repair
      • indication
        • patients with aneurysms ≥ 4-4.5 cm
    • cardiac valve repair
      • indications
        • patients with severe mitral or aortic valve disease
Complications
  • Aortic dissection
    • most common cause of death
  • Mitral valve prolapse
  • Congestive heart failure from cardiac valve abnormalities

Please rate topic.

Average 4.8 of 8 Ratings

Questions (3)

(M2.OR.17.4798) A 28-year-old male presents to the emergency department with chest pain. He reports that one hour ago he was climbing the stairs in his home when he suddenly developed excruciating chest pain. He describes the pain as ripping and radiating to the back. The patient’s past medical history is significant for a heart murmur that is being followed by his outpatient cardiologist. He takes no medications. The patient works as a carpenter and reports being monogamous with his wife. He denies any history of intravenous drug use or recent travel. In the emergency department, the patient’s temperature is 99.4°F (37.4°C), blood pressure is 164/96 mmHg, pulse is 121/min, and respirations are 14/min. On physical exam, the patient appears to be in moderate distress and is clutching his chest. He is tall and has joint hypermobility. His breath sounds are equal and full bilaterally and has weak distal pulses. Which of the following is most likely to be found in this patient?

QID: 109230
1

Holosystolic, high-pitched blowing murmur at the lower left sternal border

8%

(2/26)

2

Late systolic crescendo murmur at the apex with mid-systolic click

19%

(5/26)

3

Mid-diastolic murmur at the apex with opening snap

4%

(1/26)

4

Mid-diastolic murmur at the left lower sternal border

35%

(9/26)

5

Systolic ejection murmur at the right second intercostal space

35%

(9/26)

M 6 D

Select Answer to see Preferred Response

Question locked
Sorry, this question is for
PEAK Premium Subscribers only
Upgrade to PEAK

(M2.OR.17.4774) A 36-year-old male is brought to the emergency department by fire and rescue after being found down in his apartment by his wife. His wife reports that the patient had been complaining of chest pain for the last few hours but refused to go to the hospital. She went to the grocery store for about half an hour and found her husband unresponsive on the ground when she returned home. The patient’s wife reports that his past medical history is significant for a “heart murmur” and that the patient’s father died at age 32 for unknown reasons. In the trauma bay, the patient’s temperature is 98.8°F (37.1°C), blood pressure is 88/41 mmHg, pulse is 116/min, and respirations are 12/min. On physical exam, the patient has a Glascow Coma Score (GCS) of 7. He has a tall stature with long limbs and long, slender fingers. He is also noted to have a pectus deformity. On cardiac exam, the patient has a diastolic decrescendo murmur at the left third intercostal space. He has weak brachial and femoral pulses.

Which of the following is the most likely etiology of this patient’s presentation?

QID: 109120
1

Coronary atherosclerosis

0%

(0/77)

2

Hypertrophic cardiomyopathy

1%

(1/77)

3

Spontaneous rupture of the aorta

48%

(37/77)

4

Spontaneous rupture of the mitral chordae tendinae

9%

(7/77)

5

Spontaneous separation in the arterial wall

39%

(30/77)

M 6 D

Select Answer to see Preferred Response

VIDEOS & PODCASTS (2)
EXPERT COMMENTS (11)
Private Note