Critical Congenital Heart Defects Symptoms, Causes, Diagnosis, and Treatment

Although babies with CCHD can present as healthy for the first few hours or days of life, the following signs and symptoms may soon become apparent:

• Heart murmur
• Tachypnoea
• Hypotension
• Hypoxemia
• Cyanosis

Critical congenital heart defects which require intervention in the first few weeks of life occur in about two in 1000 live births and are a major cause of neonatal mortality and morbidity.([FOOTNOTE=Peterson C, Ailes E, Riehle-Colarusso T, Oster ME, Olney RS, Cassell CH, Fixler DE, Carmichael SL, Shaw GM, Gilboa SM. Late detection of critical congenital heart disease among US infants: estimation of the potential impact of proposed universal screening using pulse oximetry. JAMA Pediatrics. 2014 Apr 1;168(4):361-70.],[ANCHOR=],[LINK=])^,([FOOTNOTE=Wren C, Reinhardt Z, Khawaja K. Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations. Arch Dis Child Fetal Neonatal Ed 2008;93:F33–F35],[ANCHOR=],[LINK=])^,([FOOTNOTE=Chang RK, Gurvitz M, Rodriguez S. Missed diagnosis of critical congenital heart disease. Archives of pediatrics & adolescent medicine. 2008 Oct 6;162(10):969-74.],[ANCHOR=],[LINK=]) Modern day surgical and catheter interventions have led to excellent outcomes for most cases of CCHD, but timely detection is essential.³

Pulse oximetry screening (POS) improves early detection of CCHD in newborn babies by identifying those with low oxygen saturations.([FOOTNOTE=Narayen, IC, Blom, NA, Ewer, AK, et al. Aspects of pulse oximetry screening for critical congenital heart defects: when, how and why. Arch Dis Child Fetal Neonatal Ed. 2016; 101: F162–F167.],[ANCHOR=],[LINK=])^,([FOOTNOTE=Ewer AK. Pulse oximetry screening for critical congenital heart defects. Should it be routine? Arch Dis Child Fetal Neonatal Ed. 2014; 99: F93–F95],[ANCHOR=],[LINK=])^,([FOOTNOTE=Ewer AK, Furmston AT, Middleton LJ et al. Pulse oximetry as a screening test for congenital heart defects in newborn infants: a test accuracy study with evaluation of acceptability and cost-effectiveness. Health Technol Assess. 2012; 16: 1–184],[ANCHOR=],[LINK=])^,([FOOTNOTE=Armsbaugh S, Scott SD, Foss K. Pulse oximetry screening for critical congenital heart disease: Bringing evidence in to practice. J Pediatr Nurs. 2015; 30(4):591-7.],[ANCHOR=],[LINK=])^,([FOOTNOTE=Ewer AK, Middleton LJ, Furmston AT, et al. Pulse oximetry screening for congenital heart defects in newborn infants (PulseOx): a test accuracy study. Lancet. 2011; 378: 785–794],[ANCHOR=],[LINK=])^,([FOOTNOTE=Zhao QM, Ma XJ, Ge XL, et al. Pulse oximetry with clinical assessment to screen for congenital heart disease in neonates in China: a prospective study. Lancet. 2014; 384: 747–754],[ANCHOR=],[LINK=])^,([FOOTNOTE=Thangaratinam S, Brown K, Zamora J, et al. Pulse oximetry screening for critical congenital heart defects in asymptomatic newborn babies: a systematic review and meta-analysis. Lancet. 2012; 379: 2459–2464],[ANCHOR=],[LINK=]) POS has been shown to be simple, quick, painless,^7,8,9 cost-effective and ultimately tolerable for both staff and parents.⁹ Several studies carried our in the UK, US and Sweden have demonstrated that POS can be either cost-effective or cost-neutral in certain settings.([FOOTNOTE=Roberts TE, Barton PM, Auguste PE, et al. Pulse oximetry as a screening test for congenital heart defects in newborn infants: a cost-effectiveness analysis. Arch Dis Child 2012; 97:221–226.],[ANCHOR=],[LINK=])^,([FOOTNOTE=Petersen C, Gross SD, Oster ME, et al. Cost-effectiveness of routine screening for critical congenital heart disease in US newborns. Pediatrics. 2013; 132(3):595-603.],[ANCHOR=],[LINK=])^,([FOOTNOTE=de-Wahl Granelli A, Wennergren M, Sandberg K, et al. Impact of pulse oximetry screening on the detection of duct dependent congenital heart disease: a Swedish prospective screening study in 39 821 newborns. BMJ. 2009; 338:a3037.],[ANCHOR=],[LINK=]) Additionally, POS has been shown to have a consistent test accuracy.⁷ In Europe, POS is being used by an increasing number of hospitals, and pilot studies are underway in several countries.¹⁰

To date, however, only a few countries (including Polar, Ireland, and Switzerland) have issued national guidelines recommending universal screening with pulse oximetry.^7,([FOOTNOTE=Kuelling, B; Arlettaz Mieth, R; Bauersfeld, U; Balmer, C (2009). Pulse oximetry screening for congenital heart defects in Switzerland: most but not all maternity units screen their neonate. Swiss Medical Weekly, 139(47-48):699-704.],[ANCHOR=],[LINK=])

The addition of POS (with new-generation, motion-tolerant technology) to existing screening methods such as antenatal ultrasound and postnatal examination increased the overall detection of CCHD to 90-96%, irrespective of the detection rates of the other screening methods.^16,([FOOTNOTE=Ewer, K. Review of pulse oximetry screening for critical congenital heart defects in newborn infants. Curr Opin Cardiol. 2013, 28:92–96.],[ANCHOR=],[LINK=])^,([FOOTNOTE=Riede FT, Wörner C, Dähert I, et al. Effectiveness of neonatal pulse oximetry screening for detection of critical congenital heart disease in daily clinical routine – results from a prospective multicenter study. Eur J Pediatr. 2010; 169:975–981.],[ANCHOR=],[LINK=]) Most studies^9,11,13,([FOOTNOTE=Singh, AS, Rasiah, SV, and Ewer, AK. The impact of routine pre-discharge pulse oximetry screening in a regional neonatal unit. Arch Dis Child Fetal Neonatal Ed. 2014; 99: F297–F302],[ANCHOR=],[LINK=]) reported that important non-cardiad conditions, such as respiratory disorders, infections and pulmonary hypertension, were also identified by POS, further adding to its value.