Dr. Vinod Dubey

  • Kandivali | Malad | Mira Bhayandar | Thane
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Congenital Anomalies & Birth Defects

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What are birth defects and congenital anomalies?

About 3 to 4 percent of babies are born with some type of birth defect. A birth defect is a health problem or a physical abnormality. It can be very mild or severe. Some birth defects are life-threatening, in which case a baby may only live for a few months. Birth defects are also referred to as “congenital anomalies” or “congenital abnormalities.”

The most common birth defects are:

  • Fibular hemimelia
  • Tibia hemimelia
  • Arthrogryposis multiplex congenita (AMC)
  • spina bifida

What causes birth defects?

Most birth defects are caused by genetic or environmental factors or a combination of the two (multifactorial birth defects). In most cases, however, the cause is unknown.

Genetic or inherited causes include:

  • chromosomal defects – caused by too few or too many chromosomes, or problems in the structure of the chromosomes, such as Down syndrome and extra copy of chromosome 21 and sex chromosome abnormalities
  • single gene defects – a mutation in one gene causes the defect
  • dominant inheritance – when one parent (who may or may not have the disease) passes along a single faulty gene, such as achondroplasia and Marfan syndrome
  • recessive inheritance – when both parents, who do not have the disease, pass along the gene for the disease to the child, such as cystic fibrosis and Tay Sachs

An environmental cause can include a drug, alcohol or a disease the mother has that can increase the chance for the baby to be born with a birth defect. An agent that can cause a birth defect is known as a teratogen.

Multifactorial birth defects are caused by a combination of genes and environmental exposures. In other words, a person can inherit a gene that increases sensitivity to an environmental trigger. Examples include Fibular hemimelia, tibial hemimelia, CFFD and neural tube defects.

How are birth defects diagnosed?

Some birth defects can be diagnosed before birth through ultrasound, amniocentesis or chronic villus sampling (CVS). Most women have blood tests to screen for their risk of having a baby with a specific birth defect, such as Down syndrome and spina bifida. While it does not usually lead to a cure for the baby’s birth defect, prenatal diagnosis can prepare the parents emotionally and help them prepare for a child with a birth defect.

In other cases a birth defect is diagnosed after birth through physical examination or a blood test that screens for several disorders in newborns.

What are the treatment options for birth defects?

Gene therapy

Gene therapy replaces a gene that is either missing or defective. Severe combined immunodeficiency diseases (SCID) are a group of very rare diseases for which gene therapy has been used.

Enzyme replacement therapy

Enzymes are proteins for which genes code. So when a gene is mutated and does not produce the gene product, an enzyme is missing or defective. One way to treat this type of genetic defect is to replace the enzyme that the gene is not producing. An example of a condition for which enzyme replacement therapy has been developed is Gaucher disease.

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FAQ'S

What is the basic knowledge of cardiology?

Cardiology is the medical specialty that deals with the diagnosis and treatment of diseases related to the heart and blood vessels. Basic knowledge of cardiology includes understanding the anatomy and function of the heart, the various cardiovascular diseases, risk factors for heart disease, diagnostic techniques such as electrocardiograms (ECGs) and echocardiograms, treatment options including medications, interventions, and surgeries, and preventive measures to maintain heart health.

What are some good questions to ask a cardiologist?
  • What lifestyle changes can I make to improve my heart health?
  • What are the risk factors for heart disease, and how can I manage them?
  • What symptoms should I be aware of that might indicate a heart problem?
  • What diagnostic tests might be necessary to assess my heart health?
  • What are the treatment options available for my specific condition?
  • Are there any potential side effects or risks associated with the prescribed medications?
  • How often should I have follow-up appointments to monitor my heart health?
  • Are there any specific dietary recommendations I should follow?
  • Can you provide information on cardiac rehabilitation programs?
  • What steps can I take to prevent future heart problems?
What Type of Cardiologist Should You See for Specialized Heart Care?
  1. The type of cardiologist you should see for specialized heart care depends on your specific condition. Here are a few examples:
  • Interventional Cardiologist: Specializes in performing procedures such as angioplasty, stenting, and catheter-based treatments for coronary artery disease and other structural heart problems.
  • Electrophysiologist: Focuses on the diagnosis and treatment of heart rhythm disorders (arrhythmias) using techniques like electrophysiology studies and cardiac ablation.
  • Heart Failure/Cardiomyopathy Specialist: Specializes in managing heart failure and cardiomyopathy, including the use of advanced therapies like implantable devices or heart transplantation.
  • Adult Congenital Heart Disease Specialist: Deals with the diagnosis and treatment of heart conditions that were present since birth but persist into adulthood.
  • Cardiovascular Surgeon: Performs surgical procedures on the heart and blood vessels, such as coronary artery bypass grafting, heart valve repair or replacement, and heart transplantation.
What are the different types of heart disease?
  1. Coronary artery disease (CAD): This is the most common type of heart disease and occurs when the coronary arteries, which supply blood to the heart, become narrow or blocked due to a buildup of plaque.
  2. Heart failure: This refers to a condition where the heart is unable to pump enough blood to meet the body’s needs. It can result from various underlying causes such as CAD, high blood pressure, or heart valve disease.
  3. Arrhythmias: These are abnormal heart rhythms that can occur due to electrical disturbances in the heart. They can cause the heart to beat too fast, too slow, or irregularly.
  4. Heart valve disease: This condition occurs when one or more of the heart valves do not function properly. It can involve valve stenosis (narrowing) or valve regurgitation (leakage).
  5. Cardiomyopathy: This refers to diseases of the heart muscle, where the muscle becomes thick, rigid, or weak, affecting the heart’s ability to pump effectively.
  6. Congenital heart disease: This is a type of heart disease that is present at birth. It involves structural defects in the heart that affect its normal function.
  7. Pericardial disease: This involves inflammation or abnormalities of the pericardium, the sac-like membrane surrounding the heart.
What are the common symptoms of heart disease?
  1. Chest pain or discomfort (angina): This is a common symptom of coronary artery disease. It may feel like pressure, tightness, or a squeezing sensation in the chest.
  2. Shortness of breath: Difficulty breathing or feeling breathless, especially with exertion or when lying flat, can be a sign of heart disease.
  3. Fatigue: Feeling excessively tired or lacking energy, even with minimal physical activity, may be a symptom of heart disease.
  4. Heart palpitations: Sensations of a rapid, fluttering, or pounding heartbeat may occur with certain heart conditions.
  5. Dizziness or fainting: Feeling lightheaded, dizzy, or actually fainting can be a result of inadequate blood flow to the brain due to heart problems.
  6. Swelling: Fluid retention can cause swelling in the legs, ankles, feet, or abdomen.
  7. Rapid weight gain: Sudden and unexplained weight gain may be a sign of fluid buildup related to heart failure.

It is important to note that these symptoms can also be caused by other conditions, and some individuals with heart disease may not experience any symptoms until a more advanced stage. If you are experiencing any concerning symptoms, it is recommended to consult a healthcare professional for a proper evaluation.