Fetal echocardiography

Congenital anomalies are the leading cause of infant death and congenital heart diseases accounts for 30 to 50 percent of these deaths. As the major cause of the largest single category of mortality, the identification and management of fetal cardiac abnormalities is of paramount importance. Population screening studies have shown that congenital heart disease occurs in 5/1000 to 8/1000 newborns, with about one-half causing major disease and one-half causing minor disease. Fetal echocardiography is a reasonably accurate investigation for the detection of such anomalies. The prospective parents, obstetricians and cardiologists should have some basic concepts about this extremely useful tool.

Indications for fetal echocardiography:

The common indications are divided into three categories: 1. familial 2.maternal 3.fetal. Each is elaborated below

1. Familial risk factors

●First or second degree relatives with congenital heart disease (eg, the fetus’ siblings, parents, and grandparents)

●Syndromes including congenital heart disease (eg, Noonan, tuberous sclerosis, Holt-Oram, velocardiofacial [DiGeorge] syndrome)

2. Maternal risk factors

●Maternal congenital heart disease

●Cardiac teratogen medications (e.g., lithium, methotrexate, thalidomide, drugs for seizure, isotretinoin, paroxetine, warfarin)

●Maternal medical illness (e.g., diabetes, phenylketonuria, anti Ro/SSA or anti La/SSB antibodies)

●Exposure to prostaglandin synthetase inhibitors (can cause premature closure of the ductus arteriosus in the third trimester)

●Rubella infection in the first trimester

●In vitro fertilization

3. Fetal risk factors

●Suspected cardiac anomaly during basic sonogram

●Extracardiac anomaly


●Nonimmune hydrops


●Abnormal fetal situs

●Increased nuchal translucency at 11 to 14 weeks of gestation

●Chromosomal abnormality

●Monochorionic twins, with or without twin-twin transfusion syndrome

What is the timing of fetal echocardiogram?

Usually between 18 to 22 weeks

How accurate is fetal echocardiography for detection of cardiac anomalies?

Studies suggest widely variable sensitivity of fetal echo ranging from 0 to 80%. A reasonable figure would be an accuracy of 40%.

How fetal echocardiography changes the outcome?

Any cardiac anomaly should be properly explained to the parents. Though parents are less interested to know the exact anatomical details of the cardiac problem. What is more important for them is the short-, mid- and long-term prognosis of the child. Also information about place of child birth, and method to be used like- normal labour, LSCS etc. Though fetal cardiac interventions have been tried , they are far from being of routine use in near future.

For doctors it is important to explain the prognosis in clear terms. One study showed that cardiac anomalies which were amenable to biventricular repair had better outcome than single ventricle physiology (Ultrasound Obstet Gynecol. 1997 Oct;10(4):237-41. PMID 9383873)


Referral to a maternal-fetal medicine specialist, pediatric cardiologist, geneticist, and/or neonatologist to discuss prognosis, obstetrical and neonatal management, and options is recommended.


The following interventions are recommended when a fetal cardiac anomaly is suspected:

•Full fetal echocardiography to evaluate cardiac structure and function, arterial and venous flow, and rhythm.

•Detailed scanning of the fetal anatomy to look for associated anomalies, particularly involving the digits and bones.

•Thorough family history to evaluate for familial abnormalities or syndromes.

•Thorough maternal medical history to identify chronic medical disorders, viral illnesses, or medications which are potential teratogens.

•Fetal karyotype, with screening for deletion in 22q11.2 when conotruncal anomalies are present

•Referral to a maternal-fetal medicine specialist, pediatric cardiologist, geneticist, and/or neonatologist to discuss prognosis, obstetrical and neonatal management, and options.

•Delivery at an institution that can provide neonatal cardiac care, if needed.

Dr. Anupam Jena
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Natural history of pediatric idiopathic DCM

Natural history studies of pediatric idiopathic dcm are scarce. previous studies have demonstrated heterogenous figures of actuarial survival at 1 year of 63-90%, and at 5 years of 20-80%. this study add to our knowledge of natural history and LV function recovery.

American College of Cardiology Foundation | Journal of the American College of Cardiology | Recovery of Echocardiographic Function in Children With Idiopathic Dilated CardiomyopathyResults From the Pediatric Cardiomyopathy Registry.

A Hole In The Heart

Hole in the heart – Common cardiac problems in children

Many a times parenrs are told that the kid has a hole in the heart. What does a hole in the heart mean? Parents have many doubts and apprehensions about what actually that hole in the heart mean. Sometimes this term is used as a general term to suggest many diseases. Common problems which present as hole in the heart are:

  1. ASD – Atrial septal defects
  2. VSD – Ventricular septal defects
  3. PDA – Patent ductus arteriosus
  4. Multiple combinations of these defcts and other defects

Usually such diseases are treatable and completely correctible. I will explain these diseases or defects briefly and in a patient friendly language.

Normally our heart has two atria (left and right), two ventricles (left and right), two great arteries (aorta & pulmonary artery) and four valves (mitral, aortic, tricuspid & pulmonary). A hole in the heart can be a result of problems in one of these structures.

ASD (Atrial Septal Defects):

The left and the right atria are separated by the inter-atrial septum (IAS). When there is incomplete development of the IAS it results in ASD. An ASD can be an isolated problem or it may be associated with other cardiac problems. Isolated ASDs are completely correctible. Some ASDs are closed by percutaneous devices by cardiac catheterization and some are corrected by open surgery. (Details of device closure are available under cardiac interventions)

VSD (Ventricular septal defect):

The left and right ventricle are separated by inter-ventricular septum. When there is defect in the inter-ventricular septum it is known as VSD. VSD results in blood abnormally flowing from left to the right ventricle. There are four types of VSD and there are three sizes of VSD (small, moderate and large). The treatment and outcome depends on the type of VSD. Some VSDs close spontaneously while some VSDs need to be closed either by surgery or by devices. (Details of device closure are available under cardiac interventions)

PDA (Patent ductus arteriosus):

Normally in fetal life (inside mother’s womb) the aorta and the pulmonary artery are communicated by the ductus arteriosus. This ductus closes after birth. In case of some children this might remain open abnormally which is called patent ductus arteriosus. All PDAs need to be closed. Small PDAs can be closed by devices while large PDAs need surgery. (Details of device closure are available under cardiac interventions).

Frequently heart defects are combined and complex problems are associated with these septal defects. Those are more complex disorders which I can clarify for a particular patient.

In conclusion : I want you to understand that “A hole in the heart” is not always dangerous, though it signifies heart disease and needs evaluation and treatment.

If you have any queries feel free to ask (under ask your queries). If you like it, please leave a comment

Thank you

Heart Problems In Children

 Heart problems in children are more varied and complex than in adults as they suffer from a group of diseases called congenital heart diseases (Cardiac defects present since birth) as well as from many diseases seen in adults. Children with congenital heart disease pose a significant health problem. The severity of congenital heart disease range from simple defects to various complex diseases. A significant proportion of the untreated children with congenital heart disease actually die before reaching adolescence. But the good news is many of children’s heart diseases are completely treatable by early and effective therapy.

These days the advent of fetal echocardiography has enabled us to know about the structure and function of the developing heart of the fetus. Fetal echocardiography can diagnose important heart diseases in fetus making it possible to take adequate precautionary measures.

It is important to know about the symptoms of heart disease in children so that unnecessary delay in seeking medical attention can be avoided. I will explain about the symptoms.

Symptoms of heart disease in children

 The important symptoms of heart disease include

  1. Cyanosis: it means bluish discoloration of lips, tongue, finger tips and toes. Sometimes cyanosis is mild and inapparent to the eye, but the child would be obviously blue while crying. Cyanosis is usually associated with serious cardiovascular diseases. Never ignore any cyanosis seen in a child and you should immediately consult your doctor.
  2. Difficulty in breathing: In small children suffering from heart disease, there will be fast breathing. The child has difficulty with taking feeds, gets fatigued easily
  3. Excessive Sweating may be seen
  4. Growth retardation: reduced weight and height for age
  5. Frequent respiratory Infections : pneumonias can occur
  6. Exercise intolerance: unable to perform at par with other children
  7. Loss of consciousness may be seen in more serious conditions.

It is important to understand that these are common symptoms , but there can be atypical presentations also. So if you suspect anything is abnormal with your child visit a pediatric cardiologist.

Types Of Heart Problems In Children

Common types of heart problems in children are

  1. “ A hole in the heart” meaning usually – atrial septal defect, ventricular septal defect and patent ductus arteriosus. Anyone interested can read about these defects in my other posts.
  2. Stenosis(blockage) of a valve
  3. Cyanotic congenital heart diseases
  4. Acquired heart diseases- which affect in later parts of life.
  5. Many complex anomalies are there which I am not describing here.

To conclude this post – childrens are at risk for heart disease some are serious. Timely diagnosis and treatment are of vital importance.

Thank you. Please leave a comment

Dr. Anupam Jena