Long-term outcomes and follow-up

Long-term outcomes and follow-up

Long-term outcomes and follow-up

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Neuro & Cardiac - Lifelong Watch

  • Neural Tube Defects (e.g., Myelomeningocele)

    • Hydrocephalus: Lifelong shunt monitoring (blockage, infection).
    • Neurogenic Bladder: Regular renal function tests (RFTs) & ultrasounds; clean intermittent catheterization (CIC) to prevent hydronephrosis.
    • Tethered Cord Syndrome: Monitor for new motor/sensory deficits, back pain.
    • Orthopedic surveillance for scoliosis, hip dislocation.
  • Congenital Heart Disease (CHD)

    • Post-Repair (e.g., ToF, VSD): Annual cardiology f/u. Monitor for arrhythmias, ventricular dysfunction, residual shunts.
    • Infective Endocarditis (IE) Prophylaxis: Required for high-risk patients (prosthetic valves, previous IE, unrepaired cyanotic CHD).
    • Eisenmenger Syndrome: Monitor for polycythemia, heart failure. Avoid dehydration & high altitudes.

Post-ToF Repair: The most common long-term complication leading to re-operation is severe pulmonary regurgitation. The most life-threatening arrhythmia is ventricular tachycardia (VT), a major risk for sudden cardiac death.

Long-term outcomes of Tetralogy of Fallot repair

GI & GU Issues - Gut Feelings & Flow Problems

  • Gastrointestinal (GI):

    • TEF Repair: ↑ risk of GERD, dysphagia, strictures. Needs EGD surveillance.
    • Hirschsprung's: Post-op risks include enterocolitis, chronic constipation, incontinence.
    • Anorectal Malformations (ARM): Fecal incontinence & constipation are major concerns requiring a bowel management program.
  • Genitourinary (GU):

    • Posterior Urethral Valves (PUV): High risk of CKD/ESRD. Monitor creatinine, BP. "Valve bladder" causes poor compliance & incontinence.
    • Vesicoureteral Reflux (VUR): Risk of recurrent UTIs, renal scarring. DMSA scan assesses scarring.

Prognostic Pearl: The nadir serum creatinine level at 1 year of age is the best predictor of long-term renal function in boys treated for Posterior Urethral Valves (PUV).

Normal vs. PUV Urinary System

Systemic & Structural - Bones, Syndromes & Beyond

  • Osteogenesis Imperfecta (OI): Lifelong fracture risk. Follow-up includes audiology (hearing loss), DEXA scans, and cyclical bisphosphonate therapy (Pamidronate).
  • Marfan Syndrome: Regular cardiology for aortic root dilatation (Z-score monitoring). Annual ophthalmology for ectopia lentis. Beta-blockers or ARBs (Losartan) to slow aortic root growth.
  • Down Syndrome: Surveillance for hypothyroidism (TSH), atlantoaxial instability (symptom-based screening), and vision/hearing deficits.
  • Turner Syndrome: Monitor for coarctation of aorta, bicuspid aortic valve, and renal anomalies. Requires estrogen replacement for puberty & bone health.

⭐ In Down Syndrome, the Amyloid Precursor Protein (APP) gene on Chromosome 21 leads to amyloid plaque deposition, causing a high risk of early-onset Alzheimer's disease (often by age 40).

Growth & Mind - Tracking & Thriving

  • Growth Monitoring: Regular plotting on WHO/IAP growth charts. Crucial for detecting failure to thrive (FTT).

    • Red flags: Crossing >2 major centiles, weight-for-height < -2 SD.
    • Assess bone age if height is affected.
  • Developmental Surveillance: Screen at every well-child visit. Use standardized tools.

    • Domains: Gross Motor, Fine Motor, Language, Social/Cognitive.
    • Tools: DDST-II, Trivandrum Development Screening Chart (TDSC).
  • Psychosocial Health: Monitor for behavioral issues, learning disabilities, and social integration challenges. Crucial for quality of life.

Global Developmental Delay (GDD): Significant delay (≥2 SD below mean) in ≥2 developmental domains in children <5 years old.

Infant weight-for-age growth chart with failure to thrive

High‑Yield Points - ⚡ Biggest Takeaways

  • Neurodevelopmental delay is a key long-term risk in major congenital heart and CNS defects.
  • Failure to thrive is common in significant cardiac and GI anomalies, needing nutritional support.
  • Congenital renal anomalies demand lifelong follow-up for CKD and hypertension.
  • Large uncorrected shunts can lead to irreversible pulmonary hypertension (Eisenmenger syndrome).
  • SBE prophylaxis is vital for high-risk cardiac lesions, including prosthetic valves and unrepaired cyanotic CHD.
  • A planned transition to adult care improves long-term outcomes and adherence.

Practice Questions: Long-term outcomes and follow-up

Test your understanding with these related questions

A 14-year-old girl is brought to the physician because she frequently experiences cramping and pain in her legs during school sports. She is at the 10th percentile for height. Her blood pressure is 155/90 mm Hg. Examination shows a high-arched palate with maloccluded teeth and a low posterior hairline. The patient has a broad chest with widely spaced nipples. Pelvic examination shows normal external female genitalia with scant pubic hair. Without appropriate treatment, this patient is at the greatest risk of developing which of the following complications?

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Flashcards: Long-term outcomes and follow-up

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Osteogenesis imperfecta may be confused with _____

TAP TO REVEAL ANSWER

Osteogenesis imperfecta may be confused with _____

child abuse

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