Hypoplastic Left Heart Syndrome (HLHS)

 

Epidemiology:

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Common sites:

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Gross features:

    • left ventricular hypoplasia (varying degrees)
    • left ventricular endocardial sclerosis
    • stenosis / atresia of mitral valve and aorta
    • hypoplasia of ascending aorta
    • patent ductus arteriosus (main conduit for systemic and coronary circulation)
    • patent foramen ovale (usually)
    • dilated and hypertrophied right heart and pulmonary trunk
    • normal birthweight usually
    • no extracardiac malformations mostly
      • often congenital brain anomalies

 

Histologic features:

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Immunophenotype:

Marker:

Sensitivity:

Specificity:

 

 

 

 

Molecular features:

    • genetics is a factor

 

Other features:

    • death within first hours or days
    • association with Turner syndrome

 

References:

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