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Congenital Heart Defects - How To Avert It In Kids?

MBBS, MD - Paediatrics, FNB Pediatric Cardiology
Pediatric Cardiologist, Delhi
Congenital Heart Defects - How To Avert It In Kids?
If a child is suffering from a congenital heart defect, it means that the child is born with a heart defect. Some of the heart problems are simple and don t need treatment, while some are very complex and may need multiple surgeries depending on the prevailing heart condition.

Symptoms of Heart Defects-

The symptoms in children with serious heart defects depend on the type of congenital heart disease. Symptoms that a child can show are:

Breathing problem while feeding the baby

Frequent cough and cold

Poor weight gain/weight loss

Sweating over forehead during feeding

Pale grey or bluish skin especially on crying

Swelling in some areas like legs etc. in heart failure like situations

To mention a few the symptoms in children with less serious heart defects are not identified until childhood as in some cases, the child might not have the symptoms shown so early.

Feeling short of breath during an activity



Swelling in some body parts

Causes of Heart Defects-

The heart of the foetus begins to take shape during the first six weeks of pregnancy. The heart also starts beating. During this time, the major blood vessels of the heart that carry blood back and forth also start developing.

At this point, the problem starts to occur and defects start developing in the heart of the child. Still, the doctors are not sure about the cause of the defects, but they believe its genetic.

Types of Heart Defects-

Some of the common heart defects include:

1. Holes in the Heart (ASD/VSD/PDA/AVSD)-

Holes can be formed between the chambers or major blood vessels.

Holes allow rich oxygen blood to mix up with poor oxygen blood.

2. Cyanotic heart diseases (TOF, TGA, Ebstein s, etc)-

In these heart diseases, child generally has bluish-blackish discoloration of fingers or lips

3. Obstructed Blood Flow (AS/PS/COA)-

In this type of problem, the heart valves/heart vessels are narrow because of the defect; this causes the heart to pump harder.

This can lead to enlargement of the heart. How to diagnose child heart diseases?

Even in pregnancy, these heart diseases can be easily diagnosed by doing Fetal Echocardiogram . This test is like a routing ultrasound but focuses only on the fetal heart in detail. Fetal echo is generally done between 18-24 weeks but can be done in late pregnancy as well.

After birth of the child, we need to do Pediatric Echocardiogram (just like an ultrasound). This is a non-invasive test with no pain to the child.

By doing an echocardiogram, we can diagnose almost every child heart diseases.

Sometimes, Cardiac cath study or CT angio of heart needs to be done for confirming the diagnosis.


1. Some heart defects do not need any treatment as they get cured itself within a span of time.

2. However, some are serious which need to be taken care of

3. Treatment can be done either by medicines or by doing angiographic procedure or by doing open heart surgeries

4. Now a day, majority of child heart diseases like ASD, VSD, PDA, Aortic or pulmonary stenosis or coarctation of aorta, excess fluid collection around heart can be managed in cath lab by doing angiography.

5. Other cardiac diseases like large VSD/PDA/ASD, TOF, TGA, Truncus, HLHS/Tricuspid Atresia needs open heart surgery.

6. Pediatric cardiac surgery or cath lab procedures are very safe now a day.


As the reason is still unknown for the defects in the heart, it is not possible to prevent these conditions. But there are some ways that can reduce the overall risk that builds heart disease. Some of them are:

Get a Rubella Vaccine: A rubella infection at the time of the pregnancy can affect the child s heart development. Women should get the vaccination before they try to conceive.

Control Chronic Medical Conditions: If someone is suffering from diabetes, regular check-up of the blood sugar may reduce heart defects. If a person is suffering from any other disease, consult it with the doctor.

Take Multivitamin with Folic Acid
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My brother is suffering from glutaric acidemia type 1, but I am totally healthy. I do not have any child right now, but if I have any in future, is there chance that my child will also get the same disease?

MBBS, Fellowship in Hypertension
General Physician, Ujjain
My brother is suffering from glutaric acidemia type 1, but I am totally healthy. I do not have any child right now, b...
If you are carrier or one copy of defective gene and your husband is also carrier or one copy of defective gene then your baby has chance of glutaric acidemia type 1. if you husband is normal then baby will be normal
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The girl I'm planning to marry, has peutz jeghers syndrome wherein the polyps are removed every 2-3 years. It was diagnosed when she was 10 and today she is 30. Is it safe marrying her? What are the risks involved?

MD - Obstetrtics & Gynaecology, FCPS, DGO, Diploma of the Faculty of Family Planning (DFFP)
Gynaecologist, Mumbai
The girl I'm planning to marry, has peutz jeghers syndrome wherein the polyps are removed every 2-3 years. It was dia...
It is autosomal dominant meaning 50 % of children have chance to get same. Evidence shows that the syndrome is associated with an increased risk of extraintestinal malignancy, especially carcinomas of the pancreas, breast, and reproductive organs.
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Delusional Disorder - Are You Suffering From It?

Psychiatrist, Mumbai
Delusional Disorder - Are You Suffering From It?
Delusional disorder refers to the condition in which an individual experiences non-bizarre delusions that are beliefs in things that aren't actually true. The delusions involve situations that take place in real life like being deceived or stalked, conspired against, etc but in actuality, these situations may be highly exaggerated or not true at all as they involve the misinterpretation of experiences or observations. This health problem tends to take place during the middle or later part of your life and is said to affect women more than men.

What are the symptoms associated with this condition?

There are certain signs that you can look out for to easily identify this condition and there are:

Delusional thoughts lasting one month and above
Lack of schizophrenia symptoms except delusions associated with the olfactory and tactile systems
One's behavior and normal functioning doesn't witness any kind of impairment
Duration of mood symptoms is short compared to the length of the delusions
Disorder is not brought on by the use of substances or any medical condition
Commencement of the disorder can vary from teenage years to later part of adulthood
What causes it to happen?
The root cause of the disorder is still not known, but experts are of the opinion that a variety of biological, genetic, environmental and psychological factors can cause it to occur.

Some of these causes include:

Genetics: It's said that this disorder can be passed on from parents to children. Additionally, it's more common in individuals whose family members suffer from schizophrenia or one of its types.
Psychological/ environmental: In addition to drug and alcohol abuse, delusional disorder can also be set off by stress.
Biological: Abnormalities in certain parts of the brain can lead to this problem. Areas of brain associated with thinking and perception have been found to be connected to delusional symptoms.
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Hereditary Heart Diseases - How To Tackle It?

Fellowship in Electrophysiology, DM - Cardiology, MD - Medicine
Cardiologist, Bhubaneswar
Hereditary Heart Diseases - How To Tackle It?
Ever wondered why you needed to share your family s health history at a doctor s clinic? Specific questions regarding health issues of your immediate family or close blood relatives give your doctor an insight into various health risks you might have now or in future. Those are medical conditions inherited by parents or grandparents through genes. Genes are passed from parents to children in DNA of eggs or sperms. Even a single mutation (fault) in gene can influence body systems and may lead to disorders. If any of the parents have a faulty gene, there are 50:50 chances of the child inheriting it.

Hereditary heart diseases are also a result of mutation in one or more genes and tend to run in families. Genes control almost all aspects of cardiovascular system including strengthening blood vessels, pumping capacity or communication of cells in the heart. A single genetic variation is enough to alter cardiovascular processes increasing the risk of developing a heart disease, attack or a stroke. Some of the most common hereditary cardiac disorders include; Arrhythmias, congenital heart diseases and cardiomyopathy. A family history of heart attack or stroke is also an established high-risk factor for the family members. High blood cholesterol, medically known as familial hypercholesterolemia also tends to run in families.

Unfortunately, many of these conditions cannot be prevented since they are acquired through genes. But there are many ways in which these could be managed before they become complicated or fatal.

Let s look at some ways by which we can deal with hereditary heart diseases and increase a patient s chances of survival:

Early Diagnosis And Treatment: When one person in the family is diagnosed with a heart disease, it is strongly advisable for other family members to go in for screening. An early diagnosis can help in better treatment and management of the disease and impacts positively on patients life. Medical screening of siblings is highly recommended in case a person suffers a sudden cardiac death especially at a young age.

Watch out for these symptoms at a young age: Abnormal heart rhythm, asthma that does not get better with inhaler, seizures that do not improve with medication, extreme fatigue or shortness of breath are warning signals and need immediate medical attention.

Genetic Testing: Family members may opt for genetic testing to check if they carried genes of an inherited disorder.

Genetic Counselling: Genetic counselling deals with problems like anxieties and fear of attacks, confusion over disease and emotional difficulties in accepting the situation.

We may not be able to change the family history but we can surely change our environment, lifestyle and habits. Eating healthy and following an active lifestyle does help in prevention and management of such diseases.
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Fetal & Genetic Screening - Know More About It!

DM - Medical Genetics, MS - Obstetrics and Gynaecology, MBBS
Geneticist, Delhi
Fetal & Genetic Screening - Know More About It!
Prenatal Diagnosis is the diagnosis of the fetus or unborn baby. By prenatal diagnosis, doctors examine the developing baby. There are two main methods for prenatal diagnosis, Chorionic Villus Sampling (CVS), and Amniocentesis. However, the prenatal diagnosis consists of several tests which help doctors to find out the genetic disorder of the fetus.

According to many studies, some parents are at higher risk of having a baby with a genetic problem or disorder. Due to this reason, it is advisable to diagnose a baby before birth so that parents can be aware of the problem and manage it efficiently. These diagnostic tests will help parents to take better decisions for the health of their baby.

Prenatal diagnosis is also necessary as there are problems which can be treated before the birth of the baby. However, other problems need immediate attention after the delivery.

Benefits of Prenatal Diagnosis -

Prenatal Diagnosis is beneficial for:

Managing the duration of the pregnancy

Preparing for possible difficulties during pregnancy or with the birth process

Determining the consequence of the difficult pregnancy

Planning for diseases/problems/disorders that may occur in the infant

Detecting conditions that may influence future pregnancies

Determining whether to continue the pregnancy

Test for Prenatal Diagnosis -


Chorionic villus sampling


Maternal serum beta-HCG

Fetal blood cells in maternal blood

Pregnancy-associated plasma protein A

Maternal serum unconjugated estriol

Inhibin A

Maternal serum alpha-fetoprotein

What is Amniocentesis?

Amniocentesis is an invasive method and usually performed during 14 and 20 weeks of the pregnancy. In this procedure, a needle is inserted into the amniotic cavity of the uterus through the lower abdomen. Before performing Amniocentesis, an ultrasound is done to determine the gestational age, see if there is sufficient amniotic fluid present, and check the location of the placenta and fetus. With the help of injection, doctors withdraw a small amount of amniotic fluid and send it in the laboratory to test:


Genetic abnormalities

Signs for lung development

Chorionic Villus Sampling (CVS) -

Chorionic Villus Sampling or CVS is one of the methods in the Prenatal diagnosis process in which a catheter is inserted into the uterus through the vagina and cervix. It is done to withdraw the placental chorionic villi cells. After that, the cells examined and analyzed by different techniques. CVS usually performed during the 9.5 to 12.5 weeks of pregnancy. Generally, the cells withdraw in CVS is for chromosome analysis to find out the karyotype of the fetus.

Techniques Used for Pathologic Examination

These are some of the techniques used in the pathology to determine the problems and issues of the fetus:

Gross Examination

Microscopic Examination


Microbiologic Culture


Fluorescence in Situ Hybridization (FISH)

DNA Probes

Flow Cytometry

Biochemical Analysis

Electron Microscopy (EM)

Take Away -

Prenatal diagnosis is very important as it gives an idea about the pregnancy complications and future complication that a child may suffer. This also helps in curing and treating the problems during fetal development.
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Medical Genetics - What Should You Know About It?

DM - Medical Genetics, MS - Obstetrics and Gynaecology, MBBS
Geneticist, Delhi
Medical Genetics - What Should You Know About It?
Medical genetics is a branch of medicine that involves identifying the cause of human biological variation. Medical genetics help to determine the health and disease of a person which are hereditary in nature. It involves the study and counseling about the pathogenesis, etiology, and natural history of disorders and diseases that originate genetically.

Medical genetics is different from human genetics in the way that human genetics involves the research and scientific study of the genome structure that may or may not suggest medicine practice. However, medical genetics is related to the application of genetic studies to medical care.

Both human genetics and medical genetics consider the analysis of the causes and inheritance of genetic disease. However, the diagnosis, treatment, management of the genetic disease is considered only in medical genetics.

Genetic Study and Genetic Medicine -

The term genetic medicine is new in medical genetics that includes areas such as personalized medicine, gene therapy, and predictive medicine. This personalized medical care is attained by the genetic study of the individual. Medical genetics incorporates different fields such as genetic counselors, clinical physicians, and nutritionists. The clinical laboratory activities involved in the diagnosis, analysis, and research about the genetic structure help to determine the causes of genetic diseases.

Genetic Disorders Related to Medical Genetics -

There are certain conditions generally relates to the issues or abnormalities of the genetic structure in an individual which are called genetic disorders. Some common genetic disorders that are studied within the scope of medical genetics include:


Birth defects

Mental retardation

Mitochondrial disorders


Skeletal dysplasia

Cancer genetics

Connective tissue disorders

Prenatal diagnosis


Genetic Counselling -

Medical genetics also includes a process in which information about the conditions related to genetic structure, diagnostics, and the potential threat to other members of the family. This process is called Genetic Counselling. This is performed by experts who are a non-physical member in the team of medical genetics. These experts provide a family risk assessment and counsel about potential dangers to the members of the family who has genetic disorders. They provide counseling personalized on the basis of the genetic disorder.

Take Away -

Medical Genetics is a medicinal branch that deals with the diagnosis, treatment, and of the conditions related to hereditary disorders. The hereditary disorders are generally the abnormalities in the genome structure that run in a family. Some common genetic disorders that are diagnosed and treated with the help of medical genetics are mental retardation, autism, skeletal dysplasia, cancer genetics and such others. Apart from genetic disorders, medical genetics is now becoming increasingly common in dealing with various common diseases such as endocrine, neurologic, cardiovascular, ophthalmologic, pulmonary, dermatologic, and psychiatric conditions.

Medical genetics involves the clinical diagnosis and treatment of genetic disorders. Not only the physical treatment, but medical genetics also involves the treatment of such genetic disorders by the non-physical team of medical genetics called genetic counselors.
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Endometriosis - Know The Treatments Available!

MBBS, MD - Obstetrics & Gynaecology, Diploma in Reproductive Medicine (Germany)
Gynaecologist, Navi Mumbai
Endometriosis - Know The Treatments Available!
Endometriosis is a condition in which the endometrial cells lining the inside wall of the uterus begin to grow outside the uterus. In a majority of the cases, the growth is on the ovaries, the Fallopian tubes, or the tissues around the uterus. In rare cases, it occurs in other body parts. Normally, women in the age group of 30 to 40 years are prone to developing this condition and genetics is believed to be the reason behind this disorder. It is a serious medical condition if it causes discomfort to the woman.

Signs and Symptoms: The signs and symptoms of endometriosis include chronic pelvic pain, pain during menstruation, urination, and intercourse, longer periods, bleeding between menstrual cycle, bloody urine or stool, and urinary and bowel problems.

Treatment methods: In many cases, endometriosis goes undiagnosed and it can only be diagnosed through sonography and blood test. If it confirms the endometriosis, then it can be treated in the following ways:

Hormonal treatment: Hormonal treatment includes birth control pills, placement of the intrauterine device, Gonadotropin-releasing hormone, and Danazol or Medroxyprogesterone (Depo-Provera).
If the symptoms are mild and patient not planning for pregnancy. Medicine include hormonal pills and depot injection as well.
Pain medication: Pain killers with anti-inflammatory properties are prescribed to those who suffer from painful menstruation.
Surgery: This is the last treatment option and only advised to those who did not find relief from medicines and hormonal treatment. Surgeons try to remove the areas affected by endometriosis but in severe cases, the ovaries might need to be removed completely. If the symptoms are severe and the patient is planning for pregnancy the surgical management is advised. This reduces the symptoms and also enhance the process of conceiving.
Complications: It is important to treat endometriosis on time as delay can lead to complications. The complications arising out of endometriosis include the following:

Infertility: The scarring and distortions caused in the reproductive organs due to endometriosis and the endometriotic cysts can make a woman infertile.
Scarring: The bleeding and the inflammation caused by endometriosis leads to scarring of the tissues of ovaries.
Ovarian cysts: Sometimes, the abnormal growth of endometrial cells outside the uterus spreads to the ovaries and starts growing over there, leading to cysts.
Prevention: As it been mentioned before, in many cases, endometriosis goes undiagnosed but it can be prevented or its symptoms managed effectively if one is cautious. One should do the following:

Exercise regularly: Exercise increases immunity and also reduces the level of estrogens, which slows down the progression of endometriosis. It also provides relief from pain.
Eat nutritious diet: A diet rich in vitamin and minerals ensures good health of the reproductive organs and a fine immune system. This helps to fight the symptom of endometriosis and keeps the disorder in check.
Endometriosis is known to affect a large number of women and since the early symptoms are mild or confusing, most of the time they go undetected. Nevertheless, a woman can avoid it and the complications arising out of it by being mindful of the symptoms. They should also undergo a regular pelvic exam and follow the instructions of their gynecologist. This would ensure timely detection of the disorder and if this is ensured, the management also becomes easy.
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Ventricular Septal Defect - An Overview!

MBBS, MD - Paediatrics, FNB Pediatric Cardiology
Pediatric Cardiologist, Delhi
Ventricular Septal Defect - An Overview!
VSD (a hole in the heart) refers to a congenital heart disease where a hole is formed in the ventricle septum i.e. wall between two lower chambers of the heart. As a result of this, blood from the left portion of the heart (left ventricle) crosses this hole and goes to right-sided heart that results in blood overflow to lungs.
VSD is one of the commonest child heart diseases that is seen at birth, but adults too may suffer from it following an acute heart attack.

What are the causes for Ventricular Septal Defect?
Congenital VSD occurs during heart development of the fetus. The heart develops from a huge tube, dividing into sections that, in turn, will become the chambers, walls and vessels of the heart. If something goes wrong during this process, a hole can develop in the ventricular septum.
Sometimes, VSD may be caused due to genetic and environmental factors. For instance, if you have a family history of genetic conditions like Down syndrome or congenital heart diseases, then your child may be at risk of developing a Ventricular Septal Defect.

Symptoms Indicating VSD-
The signs and symptoms of Ventricular Septal Defect vary depending on the size of the VSD. If the hole is small, child may be asymptotic. Children or young adults with small VSD only show signs of a heart murmur that is detected by their family physician.
A medium or large sized hole is likely to exhibit the following noticeable symptoms in children

Rapid breathing/Breathlessness
Poor weight gain/ Failure to thrive
Poor feeding
Tiredness and fatigue
Excessive sweating
Inability to engage in physical activities
An enlarged heart
A tint of blue on the lips, fingernails, and skin in late stages of large VSD
These symptoms indicate that the VSD will most likely not close by itself, and therefore, require urgent intervention. If left untreated, Ventricular Septal Defect may lead to further complications such as pulmonary hypertension, endocarditis, or Eisenmenger like situation.

How is VSD diagnosed?
Usually, VSD is detected within the first few weeks after the birth of the child during a routine check-up. The doctor can tell if your child has a hole in the heart by hearing a heart murmur, as oxygen-rich blood passes between the two ventricles.

Suspecting VSD, your doctor may refer you to a paediatric cardiologist, who will then perform a physical examination on your child, taking his/her medical history in consideration. The following tools are used to confirm the diagnosis

An X-ray of the chest
An electrocardiogram or ECG
Most importantly by doing a pediatric echocardiogram (ECHO): this is done from the child's chest, a non-invasive modality with no pain to the child
What is the treatment?
Treatment of VSD depends on the size of the hole, and the age and weight of the child.

A small VSD with no significant symptoms mostly will require only follow-up. The child can do his/her activities without much fear.

Moderately sized VSD children are having poor weight gain and show signs of heart failure but less as compared to large VSD. These VSD needs to be followed up to 9-12 months of age and needs to close. The method of closure of moderate sized VSD depends on its location and size of VSD. Majority of moderate sized VSD can be closed by using a device in cath lab angiographically (VSD device closure non-surgically) or else by doing open heart surgery.

In a case of large VSD: Child shows signs of heart failure or in respiratory distress then first medical therapy in the form of diuretics are prescribed for decreasing the signs of heart failure. Then VSD surgical closure is advised preferably between 3-6 months of age.

Heart Surgery This involves making an incision in the chest wall and maintaining circulation with the help of a lung-heart machine while closing the hole. The surgeon may either seam the hole or stitch a patch of material over it. The heart tissue will eventually heal over the stitches or patches. In about six months, the tissue will cover the hole completely.
Another treatment option is cardiac catheterization.

Cardiac Catheterization (Non-surgical closure of VSD) The cardiologist inserts a catheter into the blood vessel in child legs that reach up to the heart. He/she then guides the tube to make measurements of blood pressure, blood flow, and level of oxygen in the chambers of the heart. A special implant known as a device is placed into the septal hole (VSD). The device flattens against the septum on both the sides to permanently heal and close the VSD.

Having your child diagnosed with a heart defect can be scary. However, consulting a paediatric cardiologist at the earliest can be helpful, as he will be familiar with Ventricular Septal Defect, and can tell you the best way to manage the condition.
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Pregnancy Over 35 - What You Need To Know?

DNB - Obstetrics & Gynecology, MBBS
Gynaecologist, Pune
Pregnancy Over 35 - What You Need To Know?
Usually, when it comes to doing anything or trying something new, we say age doesn t matter at all. But that is not the case with pregnancy. Pregnancy should be planned at earlier ages to keep your baby as well as the conceiving mother healthily. Although it has been observed that those women who conceive their babies at the age of 35 (or maybe even more than that), experience no difficulties but one should take precautionary steps before planning a baby so that no difficulties arise.

Increase in age can lead to an increase in the potential risks when it comes to pregnancy. Along with age, the quantity of the egg cells produced in the female body decreases along with the reduced quality of eggs. Also, the fertility of the sperm in males gets declined with age which makes the pregnancy at the later ages more difficult.

There can also be certain risks associated with 35+ pregnancies such as genetic disorders like Down syndrome occurrences increases with the increase in maternal age. Recombination irregularities also take place because due to increase in age the regulation of recombination process becomes inefficient that may lead to many chromosomal aberration or abnormalities such as a change in the number of sex chromosomes and increased chances of rearrangements of chromosomes.

Pregnancy in thirty-five plus years can increase the chance of miscarriage. One of the possible reasons could be the decline in fertility of the egg. The researchers have found that the risk of getting gestational diabetes, or the breeching position of the child. There could be an emergency delivery of the baby or postmortem hemorrhage can also occur. The baby born could have reduced birth weight or high birth weight, both can be dangerous for the health of the baby.

There are some of the prenatal tests which can be done in case of mothers who conceive at 35+ age. These tests can assist the gynaecologists to determine whether there are any complications during the pregnancy or not. Hence, gynaecologists always recommend the expecting ladies to maintain a properly balanced diet, take vitamins such as folic acid supplements, exercise on a regular basis, and refrain from taking drugs and regularly ask your doctors for prescribed medicines.

The women who are planning the pregnancy at such ages should go for regular prenatal checkups and further counselling. Also, one should take proper prenatal care for keeping your baby healthy and avoiding complications.
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