Congenital Heart Diseases

What is congenital heart disease (CHD)?

  • Congenital heart disease is often viewed as a group of gross structural or functional abnormalities of the heart that are present at birth.
  • Millions of children born with congenital heart disease in our country. But most of the parents are not aware of these problem.
  • Their proper observation and knowledge can lead to timely visit to a Paediatric Cardiologist which can save the life of their baby.
  • Hence we should know the key symptoms and signs of congenital heart diseases for easy diagnosis.

What are the CHD?

  • Acyanotic > Pink (normal color of skin)
  • Cyanotic > Blue

Acyanotic :

  • Atrial septal defect (ASD)
  • Ventricular septal defect(VSD)
  • Patent ductus arteriosus(PDA)
  • Pulmonary stenosis (PS)
  • Aortic stenosis (AS)
  • Coarctation of aorta(COA)

Cyanotic :

  • Tetralogy of Fallot (TOF)
  • Transposition of great arteries(TGA)
  • Single ventricle
  • Tricuspid atresia

Total anomalous of pulmonary venous return (TAPVR)

  • Functional heart disease
  • Arrhythmia, congenital heart block

How to diagnose CHD?

  • Maternal history
  • History of the child
  • Family history of CHD

Maternal history

  • Maternal infection during pregnancy
  • e.g viral infection (Rubella infection)
  • Medications (e.g. anticonvulsant , ACEI,), alcohol, cigarette smocking.
  • Diabetic mother, hypertension
  • Maternal connective tissue disease ( SLE)
  • CHD 1 % in general population, 15% if mother has CHD.

Gestational & natal History

  • Low birth weight/IUGR indicate intrauterine infection (Rubella syndrome).
  • High birth weight > infant of diabetic mother (IDM)

Family history?

  • Hereditery diseases :
  • Marfan’s syndrome
  • Noonan’s syndrome
  • Holt-Oram syndrome
  • Long QT syndrome
  • Congenital heart disease
  • Rheumatic fever
  • Sudden unexpected death
  • Diabetes Malietus, atherosclerosic, HTN, dyslipidemia, and so on.

Symptoms of the baby?

  • Typical feeding pattern (suck and sleep cycle : small feed followed by sleeping) >Poor feeding (poor feeding is the result of fatigue and dyspnoea.)
  • Poor sleep, irritability.
  • Excessive sweating and respiratory distress/chest in drawing during feeding and playing/at rest.
  • Frequent lower respiratory tract infection(e.g pneumonia) for which baby takes antibiotics and may need frequent hospital admission.
  • Poor weight gain and development.
  • Cyanosis, cyanotic spells and squatting.
  • Exsercise intolerance

Other symptoms?

  • Chest pain
  • Syncope
  • Palpitation
  • Joint symptom
  • Stroke

Why symptoms?

  • With large holes/shunt in heart, the lungs are receiving increased blood under higher than normal pressure.
  • This can result in pulmonary hypertension (high blood pressure in the pulmonary artery). If this pressure becomes too high, the heart may be unable to function properly.


  • Chest X-Ray
  • ECG
  • Holter monitoring
  • Echocardiography (2D, 3D and color doppler)
  • Cath study
  • CT scan (cardiac)
  • MRI (cardiac)


  • Nonsurgical
    • Medical management
    • Device closure of shunts/PDA stenting/Balloon aortic valvuloplasty/Baloon pulmonary valvuloplasty/coarctoplasty/Balloon atrial septostomy (BAS).
    • Pacemaker implantation.
  • Surgery


Challenges of CHD diagnosis & treatment :

  • Late diagnosis
  • Late presentation due to lack of awareness about CHD in grass root level.
  • Poverty
  • Lack of access to basic medical care
  • Ist presentation in hospital because of complications of CHD
  • Ignorance about CHD leads to:
    • Non-diagnosis : heart disease is very unlikely in children.
    • Misdiagnosis as Pneumonia, Asthma, TB.
    • Inappropriate counseling : CHD is not curable disease.
    • Scarcity of Fund, Expertise, Equipments ( pulse oximetry, ECG and Echocardiography machine ), Surgical back up (post operative management, paediatric ICU), Organized hospital / medical center. Lack of Follow up for surgery in proper time

How to deal with …

Need urgent action :

  • Public awareness about CHD for early presentation & diagnosis.
  • Educate all health workers & general practitioner on
    Early detection by typical history & cilinical examination (cyanosis, murmur).
    -Early referral to Pediatric Cardiologist
    Review, Investigations ( X-ray, ECG, Echo)
    Plan for treatment (nonsurgical / surgical) , Counseling.
  • Training & team work among Obstetricians, Pediatricians, Pediatric Cardiologist, Cardiac Surgeons & all other health care professional.
  • Require more resources allocation and judicious use of available resources.
  • Need good quality data.
  • Prevention of CHD.


  • Rubella immunization 3 months before pregnancy.
  • Avoid teratogens during pregnancy.
  • Control of DM, HTN during pregnancy.
  • Folic Acid fortified food to pregnant mother.
  • Avoid consanguinous marriage.
  • & elderly pregnancy.

Key Note

  • Children with CHD are not burden.
  • Timely treatment can give them a beautiful life.
  • They are our bright future.
  • This is the time to take strong step to deal with CHD properly.