Echocardiogram Diagnosis of Acyanotic and Cyanotic Congenital Cardiac Malformations

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Echocardiogram Diagnosis of Acyanotic and Cyanotic Congenital Cardiac Malformations


Grace Lalana Christopher*

*Consultant Pediatrician Grace Specialist Clinic, #6, 1st Floor, Maruthi Complex, Ramamurthynagar Main Road, Bangalore 560016, South India

*Corresponding author: Grace Lalana Christopher, Consultant Pediatrician Grace Specialist Clinic, #6, 1st Floor, Maruthi Complex, Ramamurthynagar Main Road, Bangalore 560016, South India

Citation: Maggo Christopher GL. (2024) Echocardiogram Diagnosis Of Acyanotic And Cyanotic Congenital Cardiac Malformations. J Clin Pract Med Case Rep. 1(1):1-12.

Received:  January 11,  2024 | Published: January 26, 2024

Copyright© 2024 by Christopher GL, et al. All rights reserved. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Studies on congenital cardiac malformations in Asian-Indian children with regard to echocardiogram diagnosis of acyanotic and cyanotic cardiac defects are limited hence warranted.

The study was undertaken to determine incidence of acyanotic and cyanotic congenital cardiac defects confirmed by echocardiogram in children with relation to age and sex in pre-operative cases.

A prospective study was undertaken among101children with congenital cardiac malformations attending out-patient and inpatient department at VIMS&RC and Sri Jayadeva Institute of Cardiovascular Sciences and Research of Cardiology (SJICR), Bangalore  over 13 months period from March 2004 to February 2005 and July 2006. The inclusion criteria were congenital cardiac malformations in children aged 2-14 years, both male and female. Diagnosis was confirmed based on clinical examination, laboratory investigations such as Haematocrit- Hb, Peripheral blood smear etc, Chest radiography, Electrocardiogram, Echocardiography, Real-Time Doppler echocardiography, Magnetic resonance imaging (MRI) and cardiac catheterization.

Majority of two main structural types of congenital cardiac malformation were acyanotic76.23%and cyanotic 23.8%.Echocardiogram diagnosis of acyanotic cardiac defects were Atrial septal defect (ASD) 27.7%, Ventricular septal defect (VSD) 23.7%, Aortic stenosis (AS) 7.9%, Pulmonic stenosis (PS) 7.9%, Patent Ductus Arteriosus (PDA) 6.9%, Coarctation of aorta (CoA) 0.99% and Corrected Transposition of great arteries (CTGA) 0.99% while cyanotic malformations included Tetralogy of Fallot(TOF) 17.8%, Double outlet Right Ventricle (DORV) 3.9%, Pentalogy of Fallot 0.99% and Triology of Fallot 0.99%. Age distribution revealed majority 29.1% were2-4 years were predominantly 37.5% cyanotic cardiac defects and incidence of cardiac malformations decreased with increased age with 30% surviving to adolescence to less than 10% with cyanotic cardiac defects. An overall male predominance was noted including among acyanotic cardiac defects ratio ofM: F::1.2:1and M: F::1.4:1 respectively, while a female predominance was observed incyanotic cardiac defects ratio of M: F:: 0.8:1.

Diagnosis confirmed by echocardiogram revealed a majority 76.23%acyanoticcongenital cardiac malformation with Atrial septal defect and Ventricular septal defect together comprised 51.4%of all cardiac defects and together with Tetraology of Fallotac counted for 70% of all cardiac malformation. Majority 29% of children were aged 2-4 years with 37.5% cyanotic defects contrasted to 27% acyanotic defects. Decreased incidence of cardiac malformations with increase in age was noted and less than 10% of children with cyanotic defects survive till adolescence as opposed to 30% with cyanotic defects. An overall male predominance was noted as well as among children with cyanotic cardiac defects ratio of M: F::1.2:1 and M: F::1.4:1 respectively contrasted to female predominance ratio of M: F:: 0.8:1 in cyanotic cardiac malformations.


Acyanotic; Teratogens; Incyanotic; Ductus Arteriosus.


The incidence of congenital cardiac malformation is reported as 4 to 50 per 1,000 live births and accounts for around 30 percent of all congenital malformation but comprises a leading cause of neonatal congenital malformations deaths [1,2]. Classification of cardiac malformations include structural types -acyanotic and cyanotic cardiac defects, abnormal formation of major blood vessels, heart valves or issues of function or position of the heart in isolation or in combination with other congenital malformations present from birth but manifest at any time after birth or may not manifest at all. Though diagnosis is usually established in the first week of life in 40-50% patients and by one month of age in remaining 50-60% of patients since congenital cardiac malformations have a wide spectrum of severity in infants, only half of these babies have abnormality severe enough to cause symptoms. Incidence from [3,4].

Incidence of critical congenital cardiac malformations of 1-2 per 1000 live births result in death requires surgical or catheter intervention within 28 days to live [5].However other study reported 12.1‰ prevalence clinically detected critical cardiac malformations [6]. Accurate diagnosis by echocardiogram confirm serious, clinically significant or clinically non-significant critical congenital cardiac malformations reported prevalence being26.6‰ severe, 3.5‰moderate, 5.4‰ mild and 17.7‰ clinically non-significant critical congenital cardiac malformations with a total prevalence being 53.2 ‰live births [7].The most common defect was VSD 17.3‰, ASD 6.2‰,  PDA 1.3‰, TOF 0.4‰, Single Ventricle  (SV) O.4‰,Atrio-ventricular septal defect (AVSD) 0.2‰,  DORV 0.2‰.A female predominance was noted in mild defects VSD and ASD and male predominance in severe cardiac malformations. The prevalence was reduced to 19.5 ‰at fourth month follow up due to spontaneous closure of muscular VSD, PDA, ASDetc [7].Advent of screening by pulse oximetry within 48 hours of birth to assess low levels <90% oxygen saturation in peripheral blood (SpO2) as a sign of a critical cardiac malformations, report a decline by 33% infants deaths per year [10,11] identifies mainly cyanotic cardiac defects and accurate diagnosis by echocardiogram is indicated[5-7].

While a study of hospital deliveries in India estimated incidence of congenital cardiac malformations 1.12/1000births, majority 88.5% were acyanotic malformations, VSD 31.2%, PDA 24.3% being the commonest, while cyanotic malformations among 11.5%,  half 48% was TOF  [12]. A study from Mexico included children from one month to adolescence also reported acynotic defects 74.2% and 25.8% cyanotic cardiac defects, Patent Ductus Arterious us was commonest followed by Ventricular Septal Defect and Atrial Septal Defect [13]. In contrast a study from Turkey reported 65.1% cyanotic to 34.8% acyanotic cardiac defects [14].

Cardiac malformations are well tolerated in fetuses because of the parallel nature of the fetal circulation; even the most severe cardiac defects such as hypo plastic left heart syndrome can usually be well compensated by the fetal circulation, Cardio genesis starts in the fourth week of pregnancy as placenta is organ of gas exchange with both placental and fetal blood stream separate without mingling, however oxygen, carbon dioxide, nutrients and waste products can pass freely from one circulation to the other, as can germs or toxins, hence teratogens may not always result in cardiac abnormalities.  It is believed that genetic factors play a role in the cause of these defects, but the pattern of inheritance is generally unclear. In fact, in all but about three percent of cases the underlying cause of the abnormality cannot be identified [15,16].

Material and Methods

Prospective study included 101 children with congenital cardiac malformations over a 13 months period from March 2004 to February 2005 and July 2006, ages 24 months to 14 years, both male and female attending out-patient and inpatients departments at VIMS&RC and Sri Jayadeva Institute of Cardiology, (SJIC) Bangalore. The clinical diagnosis was confirmed by clinical examination, laboratory investigations such as Haematocrit- Hb, Peripheral blood smear etc, Chest radiography, Electrocardiogram, Echocardiography, Real-Time Doppler echocardiography and cardiac catheterization.

Exclusion criteria include presence of associated chromosomal anomalies or syndromes. Chronic debilitating diseases such as tuberculosis or chronic neurological disorders of cerebral palsy, mental retardation, paralytic poliomyelitis, Endocrinal diseases such as hypothyroidism, diabetes mellitus, chronic renal diseases and obvious metabolic disorders e.g. mucopolysaccharidosis.


Children with congenital cardiac malformations were divided into two main structural groups - acyanotic and cyanotic, with over three-fourths acyanotic cardiac malformations and one-fourth cyanotic cardiac malformations. The distribution of acyanotic and cyanotic cardiac malformations among 101 children shown in (Table 1) and percentage distribution of acyanotic and cyanotic cardiac malformations shown in (Figure 1).

Acyanotic Cardiac Malformation

Cyanotic Cardiac Malformation






Table1: Distribution of children with Acyanotic and Cyanotic cardiac malformations.


Figure 1: Percentage distribution according to Acyanotic and Cyanotic Congenital Cardiac Malformations.

Diagnosis confirmed by echocardiogram of acyanotic congenital cardiac malformations among 77 children aged 2-14 years comprised of ASD28, VSD24, AS 8, PS8, PDA 7, CoA 1 and CTGA in1 child.  Among 24 children with cyanotic cardiac malformations, TOF in 18 was the commonest, other rare variants include Double outlet Right Ventricle (DORV) 4, Pentalogy of Fallot 1 and Triology of Fallot 1. Percentage distribution of congenital cardiac malformations is shown in (Figure 2).

Figure 2: Percentage distribution Acyanotic and Cyanotic Congenital Cardiac Malformations

Age distribution in the present study revealed that majority 29.1% of children with cardiac malformations were toddlers 2-4 years,20.4% preschoolers 4-6 years,14.8% early childhood 6-8 years, 6.7% middle childhood 8-10 years,14.8%late childhood 10-12 years and 10.8% adolescents 12-14 years, the distribution of number of children age-wise is shown in (Figure 3).