What is the prognosis for this patient?

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Prognosis Assessment for Patients with 22q11.2 Deletion Syndrome

Patients with 22q11.2 deletion syndrome have a reduced life expectancy compared to unaffected individuals, with prognosis strongly dependent on the presence of congenital heart defects. 1

Survival Rates by Clinical Presentation

  • Cardiovascular status:

    • Patients without congenital heart defects: 95% survival rate up to age 45
    • Patients with severe congenital heart defects: 72% survival rate up to age 45 1
    • Cardiovascular causes are the most common cause of death, with increased risk of sudden cardiac death

  • Multimorbidity factors:

    • Disease burden is comparable to the general population several decades older
    • Increased susceptibility to age-related diseases at younger ages:
      • Obesity
      • Type 2 diabetes
      • Parkinson's disease
      • Hearing loss 1

  • Psychiatric comorbidities:

    • Treated severe psychiatric disorders do not significantly impact survival rates 1

Prognostic Monitoring Recommendations

  1. Regular clinical monitoring:

    • Minimum twice-yearly check-ups focusing on:
      • Signs of liver disease
      • Neurological symptoms
      • Laboratory tests including liver function 1

  2. Cardiovascular surveillance:

    • Regular EKG checks for patients with pre-existing heart conditions
    • Monitoring of blood pressure, lipid profile, and glucose values 1

  3. Multidisciplinary approach:

    • Coordinated collaboration between:
      • Psychiatrists
      • General practitioners
      • Endocrinologists
      • Cardiologists
      • Other specialists as needed 1

Long-term Planning Considerations

  • Develop care transition plans as parents/primary caregivers age
  • Consider involvement of siblings, partners, and/or care facilities
  • Palliative care support may be appropriate for selected patients 1

Prognostic Implications for Management

The prognosis should guide management decisions with particular attention to:

  • Early detection and management of cardiovascular complications
  • Proactive screening for age-related diseases that occur prematurely
  • Psychiatric support that maintains quality of life
  • Comprehensive care coordination across multiple specialties

The multidisciplinary approach to care is essential for improving long-term outcomes and quality of life for these patients, with particular attention to cardiovascular health as the primary determinant of survival.

References

1
Guideline

Prognosis and Management of 22q11.2 Deletion Syndrome

Praxis Medical Insights: Practical Summaries of Clinical Guidelines, 2025

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Professional Medical Disclaimer

This information is intended for healthcare professionals. Any medical decision-making should rely on clinical judgment and independently verified information. The content provided herein does not replace professional discretion and should be considered supplementary to established clinical guidelines. Healthcare providers should verify all information against primary literature and current practice standards before application in patient care. Dr.Oracle assumes no liability for clinical decisions based on this content.

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