Marfan syndrome is a genetic disorder affecting the body’s connective tissue, supporting multiple organ systems. This nursing diagnosis focuses on identifying and managing the various manifestations of Marfan syndrome while preventing life-threatening complications.
Causes (Related to)
Marfan syndrome can affect patients in various ways, with several factors influencing its severity and progression:
- Genetic mutation in the FBN1 gene affecting fibrillin-1 protein
- Family history of Marfan syndrome
- New genetic mutation without a family history
Systemic involvement includes:
- Cardiovascular system
- Musculoskeletal system
- Ocular system
- Respiratory system
- Central nervous system
Contributing factors include:
- Physical activity level
- Pregnancy
- Growth spurts
- Environmental stressors
Signs and Symptoms (As evidenced by)
Marfan syndrome presents distinctive signs and symptoms that nurses must recognize for proper diagnosis and management.
Subjective: (Patient reports)
- Joint pain and flexibility
- Vision problems
- Chest pain
- Shortness of breath
- Back pain
- Fatigue
- Anxiety about condition
- Family history concerns
Objective: (Nurse assesses)
- Tall, slender build
- Long limbs and fingers (arachnodactyly)
- Curved spine (scoliosis)
- Chest wall deformities
- High-arched palate
- Flexible joints
- Flat feet
- Lens dislocation
- Heart murmurs
- Aortic enlargement
Expected Outcomes
The following outcomes indicate successful management of Marfan syndrome:
- The patient will maintain cardiovascular stability
- The patient will demonstrate proper body mechanics
- The patient will participate in appropriate physical activities
- The patient will maintain optimal vision
- The patient will verbalize understanding of the condition
- The patient will adhere to the medication regimen
- The patient will avoid complications
Nursing Assessment
Cardiovascular Assessment
- Monitor vital signs
- Assess heart sounds
- Check for chest pain
- Evaluate peripheral pulses
- Monitor for signs of aortic dissection
Musculoskeletal Assessment
- Evaluate posture
- Assess joint flexibility
- Monitor spine curvature
- Check for pain
- Assess mobility
Ocular Assessment
- Monitor vision changes
- Check for lens displacement
- Assess for eye strain
- Document visual acuity
- Note any eye pain
Respiratory Assessment
- Monitor breathing patterns
- Assess lung sounds
- Check for pneumothorax signs
- Evaluate exercise tolerance
- Document any chest wall abnormalities
Psychological Assessment
- Evaluate anxiety levels
- Assess coping mechanisms
- Check support system
- Monitor mood changes
- Document concerns
Nursing Care Plans
Nursing Care Plan 1: Risk for Impaired Cardiovascular Function
Nursing Diagnosis Statement:
Risk for Impaired Cardiovascular Function related to connective tissue defects affecting aorta and heart valves as evidenced by the potential for aortic dissection and mitral valve prolapse.
Related Factors:
- Genetic predisposition
- Aortic root enlargement
- Mitral valve abnormalities
- Physical stress
Nursing Interventions and Rationales:
- Monitor vital signs regularly
Rationale: Detects early signs of cardiovascular compromise - Assess for chest pain
Rationale: Identifies potential aortic complications - Administer beta-blockers as prescribed
Rationale: Reduces stress on the aorta
Desired Outcomes:
- The patient will maintain stable vital signs
- The patient will report the absence of chest pain
- The patient will demonstrate medication compliance
Nursing Care Plan 2: Impaired Physical Mobility
Nursing Diagnosis Statement:
Impaired Physical Mobility related to musculoskeletal involvement as evidenced by joint hypermobility and skeletal deformities.
Related Factors:
- Joint laxity
- Scoliosis
- Muscle weakness
- Pain
Nursing Interventions and Rationales:
- Teach proper body mechanics
Rationale: Prevents injury and reduces strain - Implement an appropriate exercise program
Rationale: Maintains strength while avoiding harmful activities - Monitor pain levels
Rationale: Guides activity modifications
Desired Outcomes:
- The patient will demonstrate safe movement techniques
- The patient will participate in appropriate exercise
- The patient will report manageable pain levels
Nursing Care Plan 3: Risk for Injury
Nursing Diagnosis Statement:
Risk for Injury related to joint hypermobility and visual impairment as evidenced by increased risk of falls and joint displacement.
Related Factors:
- Poor depth perception
- Joint instability
- Balance issues
- Environmental hazards
Nursing Interventions and Rationales:
- Perform environmental safety assessment
Rationale: Identifies and eliminates hazards - Teach safety precautions
Rationale: Prevents accidents and injuries - Recommend adaptive equipment
Rationale: Promotes safe independence
Desired Outcomes:
- The patient will maintain a safe environment
- The patient will demonstrate the use of safety measures
- The patient will avoid injuries
Nursing Care Plan 4: Anxiety
Nursing Diagnosis Statement:
Anxiety related to a chronic genetic condition and potential complications as evidenced by expressed concerns about future health status.
Related Factors:
- Uncertainty about prognosis
- Fear of complications
- Genetic implications
- Impact on lifestyle
Nursing Interventions and Rationales:
- Provide education about the condition
Rationale: Increases understanding and control - Teach coping strategies
Rationale: Helps manage anxiety - Facilitate support group connection
Rationale: Provides peer support and resources
Desired Outcomes:
- The patient will verbalize decreased anxiety
- The patient will utilize effective coping strategies
- The patient will participate in support systems
Nursing Care Plan 5: Imbalanced Nutrition: Less than Body Requirements
Nursing Diagnosis Statement:
Imbalanced Nutrition: Less than Body Requirements related to increased metabolic demands and difficulty maintaining weight as evidenced by a tall, thin build and difficulty gaining weight.
Related Factors:
- High metabolism
- Physical limitations
- Eating difficulties
- Dental issues
Nursing Interventions and Rationales:
- Monitor nutritional intake
Rationale: Ensures adequate nutrition - Provide a high-calorie diet plan
Rationale: Promotes weight maintenance - Refer to dietitian
Rationale: Ensures specialized nutritional guidance
Desired Outcomes:
- The patient will maintain the appropriate weight
- The patient will demonstrate adequate nutritional intake
- The patient will follow the recommended diet plan
References
- Ackley, B. J., Ladwig, G. B., Makic, M. B., Martinez-Kratz, M. R., & Zanotti, M. (2023). Nursing diagnoses handbook: An evidence-based guide to planning care. St. Louis, MO: Elsevier.
- Dean JC. Management of Marfan syndrome. Heart. 2002 Jul;88(1):97-103. doi: 10.1136/heart.88.1.97. PMID: 12067963; PMCID: PMC1767196.
- Harding, M. M., Kwong, J., & Hagler, D. (2022). Lewis’s Medical-Surgical Nursing: Assessment and Management of Clinical Problems, Single Volume. Elsevier.
- Herdman, T. H., Kamitsuru, S., & Lopes, C. (2024). NANDA International Nursing Diagnoses – Definitions and Classification, 2024-2026.
- Ignatavicius, D. D., Rebar, C., & Heimgartner, N. M. (2023). Medical-Surgical Nursing: Concepts for Clinical Judgment and Collaborative Care. Elsevier.
- Marelli S, Micaglio E, Taurino J, Salvi P, Rurali E, Perrucci GL, Dolci C, Udugampolage NS, Caruso R, Gentilini D, Trifiro’ G, Callus E, Frigiola A, De Vincentiis C, Pappone C, Parati G, Pini A. Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies. Diagnostics (Basel). 2023 Jul 5;13(13):2284. doi: 10.3390/diagnostics13132284. PMID: 37443678; PMCID: PMC10340634.
- Silvestri, L. A. (2023). Saunders comprehensive review for the NCLEX-RN examination. St. Louis, MO: Elsevier.
- Spencer M. Marfan syndrome. Nursing. 2024 Apr 1;54(4):19-25. doi: 10.1097/01.NURSE.0001007604.09204.9a. Epub 2024 Mar 22. PMID: 38517496.
