Published: 2020-01-23

Clinical profile and outcome of congenital cyanotic heart disease in neonatal period: a retrospective study

Janaki B. Pradhan, C. N. Kamalarathnam


Background: Congenital Cyanotic Heart Disease (CCHD) is under reported during neonatal period and mortality rate is high in India. Aims and objectives of the study determine clinical presentation, maternal and neonatal risk factors and outcome of CCHD during neonatal period.

Methods: A retrospective study conducted over 15-month period during March 2017 to June 2018 in a tertiary out born NICU. Neonates with echocardiographically confirmed case of structurally abnormal heart disease were analyzed.

Results: Among 106 CCHD neonates, 60% neonates were asymptomatic, 22% had persistent cyanosis and 19% had tachypneic at birth. Cyanosis (35%) and tachypnea (30%) were common initial presentation in postnatal period. 22% neonates were readmitted with initial clinical symptom after discharge from birthing centre. CCHD were more common in male and term neonate, 34% were small for age, median age at admission and discharge were 5days (2-12) and 5 days (2.7-9.2) days respectively. Nineteen percent neonates had fetal distress and 6% neonates required aggressive resuscitation at birth. First trimester abortion (16%), maternal diabetes (10%) and hypothyroidism (7%) were common maternal risk factor. Nearly 20% neonates were diagnosed at referring hospital and 4.7% were transported with PGE1 during transport. TGA (17%) was most common lesion noted followed by pulmonary atresia (10%). Fourteen percent neonates died during the neonatal period. Disease specific death rate was highest for Single ventricle (42%) followed by TGA with IVS (37.5%) and aortic arch anomaly (28.5%) in this study.

Conclusions: Early diagnosis and management may improve the survival in CCHD neonates.


Congenital cyanotic heart disease, Congenital heart disease, Cyanosis, Echocardiography, PGE1, Pulse oximetry, Shock

Full Text:



Yang Q, Khoury MJ, Mannino D. Trends and patterns of mortality associated with birth defects and genetic diseases in the United States, 1979-1992: an analysis of multiple-cause mortality data. Genet Epidemiol. 1997;14:493-505.

De Wahl Granelli A, Wennergren M, Sandberg K, Mellander M, Bejlum C, Inganas L, et al. Impact of pulse oxymetry screening on the detection of duct dependent congenital heart disease: a Swedish prospective screening study in 39,821 newborns. BMJ. 2009 Jan 8;338:a3037.

Oster ME, Lee KA, Honein MA, Riehle-Colarusso T, Shin M, Correa A. Temporal trends in survival among infants with critical congenital heart defects. Pediatr. 2013 May 1;131(5):e1502-8.

Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol. 2002;39:1890-900.

Bull C. Current and potential impact of fetal diagnosis on prevalence and spectrum of serious congenital heart disease at term in the UK. British Pediatric Cardiac Association. Lancet. 1999;354:1242-7.

Ewer AK, Middleton LJ, Furmston AT, Bhoyar A, Daniels JP, Thangaratinam S, et al. Pulse oximetry screening for congenital heart defects in newborn infants (PulseOx): a test accuracy study. Lancet. 2011 Aug 27;378(9793):785-94.

Bonnet D, Coltri A, Butera G, Fermont L, Le Bidois J, Kachaner J, et al. Detection of transposition of the great arteries in fetuses reduces neonatal morbidity and mortality. Circulation. 1999 Feb 23;99(7):916-8.

Brown KL, Ridout DA, Hoskote A, Verhulst L, Ricci M, Bull C. Delayed diagnosis of congenital heart disease worsens preoperative condition and outcome of surgery in neonates. Heart. 2006 Sep 1;92(9):1298-302.

Khoshnood B, De Vigan C, Vodovar V, Goujard J, Lhomme A, Bonnet D, et al. Trends in prenatal diagnosis, pregnancy termination, and perinatal mortality of newborns with congenital heart disease in France, 1983-2000: a population-based evaluation. Pediatr. 2005 Jan 1;115(1):95-101.

Marek J, Tomek V, Škovránek J, Povýšilová V, Šamánek M. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience. Heart. 2011 Jan 15;97(2):124-30.

Stümpflen I, Stümpflen A, Wimmer M, Bernaschek G. Effect of detailed fetal echocardiography as part of routine prenatal ultrasonographic screening on detection of congenital heart disease. Lancet. 1996 Sep 28;348(9031):854-7.

Martin GR, Bradshaw EA. Sensitivity of pulse oximetry for detection of critical congenital heart defects in newborn infants higher than that of antenatal ultrasound with few false positives. BMJ Evidence-Based Med. 2012 Apr 1;17(2):57-8.

Bhat NK, Dhar M, Kumar R, Patel Al. Prevalence and pattern of congenital heart disease in Uttarakhand, India. Ind J Pediatr. 2013; 80(4):281-5.

Sawant SP, Amin AS, Bhat M. Prevalence, pattern and outcome of congenital heart disease in Bhabha Atomic Research Centre Hospital, Mumbai. Ind J Pediatr. 2013 Apr 1;80(4):286-91.

Saxena A. Congenital heart disease in India: a status report. Ind J Pediatr. 2005 Jul 1;72(7):595-8.

Kulkarni S. Does fetal echo help the fetus?. Annal Pediatr Cardiol. 2013 Jan;6(1):21.

Wren C, Birrell G, Hawthorne G. Cardiovascular malformations in infants of diabetic mothers. Heart. 2003 Oct 1;89(10):1217-20.

Wren C, Reinhardt Z, Khawaja K. Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations. Archiv Dis Childhood-Fetal Neonatal Ed. 2008 Jan 1;93(1):F33-5.

Landis BJ, Levey A, Levasseur SM, Glickstein JS, Kleinman CS, Simpson LL, et al. Prenatal diagnosis of congenital heart disease and birth outcomes. Pediatr Cardiol. 2013 Mar 1;34(3):597-605.

Anagnostou K, Messenger L, Yates R, Kelsall W. Outcome of infants with prenatally diagnosed congenital heart disease delivered outside specialist paediatric cardiac centres. Archiv Dis Childhood-Fetal Neonatal Ed. 2013 May 1;98(3):F218-21.