Cyanosis natural history, complications and prognosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:


Natural History, Complications, and Prognosis

Natural History

  • The symptoms of neonatal cyanosis usually develop in the first few weeks of life, and start with symptoms such as
  • If left untreated, [#]% of patients with [disease name] may progress to develop [manifestation 1], [manifestation 2], and [manifestation 3].



  • Most infants with critical CHD are diagnosed either prenatally or upon clinical examination during the birth hospitalization. However, up to 30 percent of infants with critical CHD appear normal on routine examination and signs of critical CHD may not be apparent in the first days of life [15,16]. Cyanosis may not be clinically apparent in patients with mild desaturation (>80 percent saturation) or anemia [17]. In darkly pigmented infants, cyanosis can be especially difficult to appreciate. (See "Identifying newborns with critical congenital heart disease", section on 'Postnatal diagnosis'.) The timing of presentation varies with the underlying lesion and its dependence upon a patent ductus arteriosus (PDA). In patients with ductal-dependent lesions (table 1), closure of the PDA within the first few days of life can precipitate rapid clinical deterioration with potentially life-threatening consequences (ie, severe metabolic acidosis, seizures, cardiogenic shock, cardiac arrest, or end-organ injury) [18]. Other patients may have lesions that are not dependent on the patency of the PDA (eg, total anomalous pulmonary venous return, truncus arteriosus), yet delayed diagnosis can similarly lead to poor outcomes. For infants with critical CHD who are not diagnosed during the birth hospitalization, the risk of mortality is as high as 30 percent [9,11,19]. In a population-based observational study of 3603 infants with critical CHD born in 1998 to 2007 (prior to institution of routine pulse oximetry screening) identified through a state Birth Defects Registry, about one-quarter of patients were not diagnosed during the birth hospitalization [20]. In this group of late detected critical CHD (n = 825), 15 deaths were deemed to be potentially preventable (1.8 percent). In addition, adjusted multivariable analysis showed that infants with late detected critical CHD had a greater number of admissions, more hospitalized days, and higher inpatient costs than those diagnosed prenatally or during the birth hospitalization. In a simulation model based upon estimates of birth prevalence, prenatal diagnosis rates, late detection rates, and sensitivity of pulse oximetry screening, one study estimated that 875 infants with critical CHD will be detected annually in the United States through newborn screening [16]. An additional 880 false-negative screenings are expected.