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Congenital Heart Diseases


Congenital heart disease is characterized by abnormal structure and function of the heart, which is present at birth and results from prenatal insults. Congenital heart disease is among the most prevalent birth defects, affecting around 1% of births (about 40,000) per year in the USA. 

A few congenital cardiac abnormalities may be minor and not be life-threatening. But severe malformations, on the other hand, can have life-threatening consequences. Infants having congenital heart disease can now live well into maturity due to improvement in detection and therapy.


Although no specific cause has been identified in most cases, several elements have been associated with it.

  • Congenital cardiac illness is thought to be inherited and has been connected to several genetic abnormalities. For example, one genetic disorder named "Down syndrome" affects a baby's normal physical development, causes learning difficulties, and affects the heart.
  • Contraction of certain infections by a mother while pregnant. These infections are also referred to as TORCHS, which stands for toxoplasmosis, rubella, cytomegalovirus, herpes simplex, HIV, and syphilis
  • A variety of medications can cause congenital heart disease and other birth defects—for example, statins, acne medications, and lithium.
  • Consuming too much alcohol or smoking cigarettes by mother during pregnancy.
  • Mother suffering from diabetes type 1 or 2.
  • Certain chromosome abnormalities, in which genes are abnormal and can be passed down.


Congenital heart diseases are among the most frequent congenital defects, occurring in 1% of babies born in the US. They were found in around 2.4 million people in the US in 2010; 1 million were under 18 years old, while 1.4 million were older than 18 years. The condition affected women(1,260,000)  slightly more than men(1,163,000). 


Various kinds of cardiac defects can be found in a baby, either alone or in combination. The following are some of the more frequent defects:

  • Septal defects: These are holes in the heart that connect two chambers.
  • Coarctation of the aorta: It is a disease in which the aorta is thinner than usual.
  • Pulmonary valve stenosis: it is the narrowing of the pulmonary valve that regulates blood circulation from the bottom right heart chamber to the pulmonary area
  • Transposition of the major arteries: In this condition, Aortic and pulmonary valves, as well as the vessels to which they are linked, have switched locations.  
  • Tetralogy of Fallot: four cardiac defects co-occur in this syndrome which are pulmonary valve stenosis, wrong position of the aorta, ventricular septal defect, and thickening of the right lower chamber of the heart (right ventricle).

Signs And Symptoms

Some mild defects can be asymptomatic till infancy, while others can present with severe symptoms at birth. These symptoms may include:

  • Blue lips or fingernails
  • Rapid breathing
  • Tiredness while feeding
  • Excessive sleepiness
  • Swelling around the eyes.
  • Swelling of the feet
  • Rapid heartbeat
  • Fatigue
  • bluish skin
  • Sweating and rapid breathing when a baby is feeding


The doctor will inquire about the symptoms and the previous medical history to diagnose the disorder. He will examine the patient, emphasizing the heart examination using a stethoscope for hearing the heart sounds to determine congenital heart disease. The following tests can be used to detect or exclude congenital cardiac disease:

  • Electrocardiogram: Electrical impulses in the heart are recorded during this simple test. Many cardiac disorders, such as irregular heartbeats and clogged arteries, can be diagnosed with an ECG. ECG is sometimes taken when you work out, usually on a bike or treadmill, also known as a stress test.
  • Pulse oximeter: It is used to measure oxygen saturation in the blood. The amount of oxygen in the body can be estimated using a tiny detector connected to your hand.
  • Echocardiogram: In this test, ultrasound waves create an image of your heart. Your physician would suggest this test to check how your heart's structures work.
  • X-ray of the chest: Changes in the size and form of your heart, as well as abnormalities in your lungs, can be shown on these scans.
  • Transesophageal echocardiography: It is a type of echocardiogram performed through the esophagus. A transesophageal echocardiogram may be recommended if more precise pictures of your heart are required. A thin pipe holding the sensor is directed down your throat and into the tube that connects your mouth and stomach(esophagus). The procedure is carried out when you are anesthetized.
  • CT scan and an MRI: Pictures of the heart are created throughout this investigation. It is a more detailed investigation than simple x rays.
  • Catheterization of the heart:  Your physician may use it to check the heart's normal blood flow and pressure. You'll be provided sedatives to help you fall asleep. The doctor will then carefully place a cannula into a blood channel in your pelvis or shoulder and, after that, guide it to your heart. With the help of X-rays, the cannula is placed in the appropriate location. Color dye is often infused inside the cannula. It aids in the assessment of heart arteries more clearly.


Congenital cardiac disease is most often completely cured in infancy. On the other hand, some cardiac defects may not be substantial enough to be repaired in childhood, but they would create issues later in life. Adults with congenital cardiac disease are treated differently depending on the severity of their condition. You could need to be watched or need medicine or surgery.

Minor heart defects may only necessitate periodic health checks with your specialist to help that your illness does not deteriorate. Inquire with your physician about how frequently you should be seen.


Medications that assist the heart to perform better can be used to cure some moderate congenital heart abnormalities. Several classes of medicines have been used depending on the type of the condition and the symptoms needed to be controlled, like anticoagulants (Heparin, Warfarin) are used to avoid blood clots or Beta Blockers (Atenolol, Propranolol), and Calcium Channel Blockers (Amlodipine, Diltiazem ) are used to manage an abnormal heart rhythm.


Adults with congenital heart disease can undergo a variety of surgical interventions; 

Implantable Devices. A pacemaker or an implantable cardioverter-defibrillator (ICD) that helps regulate the pulse rate or rectifies life-threatening unusual heartbeats may alleviate some of the problems with congenital heart defects.

Catheterization. It is a procedure that can fix some congenital heart abnormalities. These procedures make it possible to heal the heart without requiring open-heart surgery. Instead, the physician places a small tube into a thigh vein or artery and uses X-ray pictures to direct it to the heart. The doctor inserts tiny instruments through the tube to correct the problem once it is in place.

Open-Heart Surgery:  Your doctor may suggest open-heart surgery if catheter methods fail to correct the heart problem.

Heart Transplant: A heart transplant may be a possibility when a major cardiac defect cannot be fixed.


The severity of the defect and its management all play a role in the survival of babies with heart defects. Approximately 97 percent of newborns delivered with a non-critical CHD will live up to the age of one year, and 95% will live up to 18 years of age. 


The best way to prevent a cardiac defect in the child is to be very careful during pregnancy and know about the things that can be harmful to you and your baby.

  • If you're expecting, consult your physician when using any medications.
  • Inquire with your physician about whether toxins or drugs may be dangerous to your child.
  • Keep your blood sugar levels in check if you have hyperglycemia or gestational diabetes.
  • Have blood work to discover if you're protected from rubella if you're expecting. If you aren't, get immunized as soon as possible after giving birth.

Our clinical experts continually monitor the health and medical content posted on CURA4U, and we update our blogs and articles when new information becomes available. Last reviewed by Dr.Saad Zia on May 15, 2023.


Congenital heart disease - NHS (

Congenital Heart Disease | Congenital Heart Defects | MedlinePlus