Marfan’s Syndrome Signs and Symptoms

Marfan’s SyndromeDefinition

  • Is a connective tissue disorder.
  • The chemical make-up of the connective tissue isn’t normal, as a result many of these structures aren’t as stiff as they should be.
  • It is inherited and affect many parts of the body.
  • The syndrome is so mild that few symptoms exist.
  • The walls of the major arteries are weakened. The aorta, the major artery that leaves the heart, often is affected. When this occurs, it get bigger (dilates) which can weaken the inner aortic wall. Under strenuous exertion, the aorta can tear. Blood can leak through these tears into the aortic wall, separating its layers – a process called aortic dissection. Another problem that may occur if the aortic wall weakens is that an aneurysm may form.


  • Marfan syndrome is inherited as an autosomal dominant trait. Up to 30% of cases have no family history and are so called “sporadic” cases.


  • Single mutant allele (from affected parent).
  • Transmitted to the offspring.
  • Abnormal proteins in genes
  • Abnormal membrane bound transport system
  • Abnormal structural proteins
  • Abnormal cells
  • Abnormal tissues
  • Abnormal organ abnormal system

Signs and symptoms

  • Long, lanky frame
  • Long thin ribs
  • Arm span significantly greater than body height
  • Long, spidery fingers (arachnodactyly)
  • Funnel chest
  • Scoliosis
  • Visual difficulties
  • Flat feet
  • Learning disability
  • Thin, narrow face
  • Hypotonia
  • Joint laxity
  • Highly arached palate
  • Crowded teeth
  • Dislocation of lens
  • Malformed cornea
  • Retinal detachment


  • Physical examination
  • Echocardiogram
  • Eye examination
  • X-ray
  • Doppler echo test
  • MRI
  • CT scan
  • Biopsy
  • CBC
  • Blood chemistry
  • Urine analysis

Nursing Diagnoses

  • Risk for injury
  • Risk for infection
  • Knowledge deficit
  • Anxiety
  • Activity intolerance
  • Disturbance in self-esteem
  • Fear
  • Fatigue
  • Disturbed body image
  • Impaired physical mobility
  • Hopelessness

Nursing Interventions

  1. Observe safety precautions all the time, keep side rails up all the time.
  2. Observe cleanliness and sterility all the time to avoid possible contamination and spread of infection.
  3. Provide correct information about the disease process, complications and possible treatment.
  4. Encourage patient to acknowledge and to express feelings to be relieved from anxiety.
  5. Ascertain ability to stand and move about and degree of assistance necessary or use of equipment.
  6. Discover patient’s inner abilities and help to improve them to boost up their self-esteem.
  7. Provide rest periods, avoid unnecessary disturbance.
  8. Improve other qualities and help the patient accept their problems and help them comfort them.


  • Dilated aortic root
  • Dissecting aortic aneurysm
  • Aortic rupture
  • Bacterial endocarditis
  • Heart failure
  • Mitral valve prolapsed
  • Frequent palpations
  • High blood
  • Pneumothorax
  • scoliosis

Daisy Jane Antipuesto RN MN

Currently a Nursing Local Board Examination Reviewer. Subjects handled are Pediatric, Obstetric and Psychiatric Nursing. Previous work experiences include: Clinical instructor/lecturer, clinical coordinator (Level II), caregiver instructor/lecturer, NC2 examination reviewer and staff/clinic nurse. Areas of specialization: Emergency room, Orthopedic Ward and Delivery Room. Also an IELTS passer.

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