DISEASE SCANNER

Global Incurable Diseases Tracker

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Genetic Disorder

Critical Congenital Heart Defects

HIGH SEVERITY

A group of structural heart defects present at birth that require intervention in infancy. Includes hypoplastic left heart syndrome, transposition of the great arteries, tetralogy of Fallot, coarctation of aorta, and single ventricle defects.

Global Affected

400.0K

Countries

15

Symptoms

Cyanosis
Rapid breathing
Poor feeding
Lethargy
Heart murmur
Poor weight gain
Shock (ductal-dependent lesions)
Hepatomegaly

Treatment Options

Genetic counseling
Supportive care
Symptom management
Enzyme replacement (if applicable)
Physical therapy
Regular monitoring
Multidisciplinary care

Risk Factors

1Family history
2Genetic mutations
3Consanguinity
4Advanced paternal age
5Ethnic predisposition

Diagnostic Methods

  • 1Genetic testing
  • 2Clinical evaluation
  • 3Family history assessment
  • 4Specialized laboratory tests
  • 5Imaging studies
  • 6Biopsy (if applicable)

Prognosis

Variable by lesion. Simple defects: normal life expectancy after repair. Complex defects: 85-95% survival to adulthood. Adults with CHD now outnumber children. Lifelong follow-up required.

Prevention

  • Genetic counseling
  • Carrier screening
  • Prenatal diagnosis
  • Preimplantation genetic diagnosis
  • Family planning

Research Status

Neonatal cardiac surgery (often multiple staged procedures). Fetal interventions for select defects. Cardiac catheterization interventions. Heart transplant when needed. Survival now >85% for most defects. Lifelong cardiac follow-up.

Affected Countries

United StatesUnited KingdomCanadaAustraliaGermanyFranceItalySpainJapanChinaIndiaBrazilMexicoNigeriaSouth Africa

Sources

  • https://www.ncbi.nlm.nih.gov/books/NBK1116
  • https://medlineplus.gov/genetics
  • https://rarediseases.org

Medical Disclaimer

This information is for educational purposes only. Always consult healthcare professionals for medical advice, diagnosis, and treatment.