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Heart Defects: Medical Information on Causes, Diagnosis, Symptoms and Treatment

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defects-of-the-heartImportant Answers about Heart Defects

  • Heart Defects Overview
  • Heart Defect Related Deaths
  • Heart Defect Causes
  • Signs and Symptoms
  • Diagnosing Congenital Heart Defects
  • Treatments

Heart Defects

Heart Defects Overview

Congenital heart defects are present at birth Involving the structure and function of the heart’s interior walls, valves, veins, or arteries. This type of defect usually changes the heart’s natural blood flow. Pediatric heart defects usually refer to various heart conditions including congenital heart defects that occur or present themselves in children past the infant age. There is no direct correlation made between pediatric heart defects and risk factors other than women who get rubella (German measles) in their first trimester have an increased risk of birthing a newborn with a congenital RD.

There is a wide array of congenital heart ranging from minimal defects that do not present symptoms to highly complex heart defects that produce life-threatening, severe problems. Fortunately, most simple defects are easily fixed and required no treatment. However, infants born with a serious congenital heart usually require immediate special medical care.

Statistics released by the National Heart, Lung and Blood revealed that nearly 8 out of 1000 babies (approximately 40,000 newborns) in the United States are born with a congenital heart each year. Out of those, approximately 4800 newborns are born with critical congenital heart disease that might affect the way the baby’s heart works, is shaped, or both. Without treatment, critical congenital heart disease can be fatal within hours.

Heart Defect Related Deaths

Heart defects are the leading factor of defect-related newborn illness and death. Nearly half of all deaths caused by heart defects happen to newborns one year of age or younger. Long-term survival rates of infants suffering from heart defects are dependent on the severity, diagnosis, and treatment of the condition. Approximately three out of four newborns with a critical heart defect will survive their first year and approximately seven out of 10 newborns will survive until their 18th year.

The most common reported congenital defects include:

  • Aortic Valve Stenosis (ABS)
  • Atrial Septal Defect (ASD)
  • Ventricular Septal Defect (VSD)
  • Coarctation of the Aorta (CoA)
  • Tetralogy of Fallot
  • d-Transposition of the Great Arteries
  • Single Ventricle Defect
  • Epstein’s Anomaly
  • Truncus Arteriosus
  • I-Transposition of the Great Arteries
  • Pulmonary Valve Stenosis
  • Patent Ductus Arteriosis (PDA)
  • Complete Atrioventricular Canal Defect (see AVC
  • Total Anomalous Pulmonary Venous Connection (TAPVC)

Heart Defect Causes

Often, the guilt parents feel when they realize her child has a heart defect can make them believe it was their fault because something went wrong during the pregnancy that led to the problem. However, doctors, scientists, and researchers have yet to determine why all pediatric and congenital heart defects happen. The most common causes of congenital heart defect include:

  • Heredity – Heredity is thought to play a significant role in the development of some heart defects. As an example, if one parent was born with a congenital heart defect, their children are more likely to have the defect. However, it is a rare occurrence that more than one sibling is born with a congenital heart defect.
  • Genetic Disorders – Approximately 50 percent of all children born with genetic disorders, like Down syndrome, Turner’s syndrome, DiGeorge syndrome, and Cri-du-chat syndrome are also found to also have a congenital heart.
  • Single Gene Defect – Any single mutated gene out of the estimated 70,000 genes with 46 chromosomes can cause significant health problems and defects in a newborn. A few of the genetic syndromes related to increasing incident rate of heart defects involve:
  1. Marfan syndrome
  2. Ellis-van Creveld syndrome
  3. Noonan syndrome
  4. Holt-Oram syndrome
  5. Smith-Lemli-Opitz syndrome
  6. Mucopolysaccharidoses
  • Smoking – Researchers have recognized the correlation between several different forms of congenital heart, like septal defects, to the mother smoking during pregnancy.
  • Drug Use and Alcohol Consumption – Doctors recommend that pregnant women avoid taking drugs without a prescription and drinking alcohol.

Signs and Symptoms

In many cases, the baby will show no signs or symptoms associated with their heart defect that might only be discovered during a routine physical exam. However, common symptoms that are detectable include:

  • Difficulty in breathing
  • Tiredness or fatigue
  • Cyanosis (bluish skin tones)
  • Rapid heartbeat
  • Swelling around the eyes and in the abdomen
  • Poor eating habits

Diagnosing Congenital Heart Defects

Doctors can typically diagnose a congenital heart the during pregnancy or just after labor and delivery. However, many mild defects are not diagnosed until the newborn is much older. This is because some minor defects have no symptoms or signs, so diagnosing them is often the result of an extensive physical exam or performing tests for other reasons.

Pediatric cardiologists specializing in providing care to newborns and children with heart problems can perform surgery to repair mild to severe defects.The doctor will perform a physical exam and:

  • Listen to the lungs and heart using a stethoscope
  • Observe the functioning heart to detect a defect and look for other indications including delayed growth, cyanosis (bluish skin tint), rapid breathing, shortness of breath, or evidence of heart failure.

The cardiologist will also perform diagnostic tests that include:

  • Echocardiogram (echo) – This ultrasound machine uses sound waves to create a moving image of the heart to provide a clear picture of the heart’s formation and its ability to function. This machine can also create a fetal echo if the obstetrician suspects the fetus has a congenital heart.
  • Electrocardiogram (EKG) – This machine records the timing and strength of the heart’s electrical signals to determine if there is a steady or irregular rhythm to the heartbeat. An EKG can also identify an enlarged heart chamber to help in the diagnosis of heart issues.
  • Chest X-Ray – Creating x-ray images can help identify an enlarged heart and whether the child’s lungs have extra fluid, excess blood flow or heart failure.
  • Pulse Oximetry – A small sensor attached to the child’s toe or finger provides an estimate of the amount of oxygen in the baby’s blood.
  • Cardiac Catheterization – Threading a flexible, thin catheter tube into a groin, neck or arm vein can help measure the oxygen and pressure levels inside the child’s blood vessels in her chambers. The catheterization also provides insight into other problems including determining whether the child’s blood is mixing from one side of the heart to the other.


Many newborns and children with a pediatric and congenital heart defect do not require treatment to correct the problem. Unfortunately, some children must undergo catheter and surgical procedure as a corrective treatment for their condition. Others must undergo these procedures over an extended period including months or years, followed up with prescription medication. The most common types of procedures and surgeries involve:

  • Catheter Procedures – This procedure eliminates the need to perform surgery on the young child and avoids opening the chest to gain access to the heart. Catheter procedures are preferred to repair pulmonary valve stenosis and atrial septal defect (ASD) defects.
  • Surgery –Open-heart surgery is an option when the defect cannot be repaired using catheter procedures. Typical heart defect cases requiring open-heart surgery involve:
  1. Holes in the heart
  2. Heart valve repair or replacement
  3. Opening or widening arteries and heart valves

Advancements and breakthroughs in medical procedures, devices, and medicines have helped newborns born with heart defects to live much longer and healthier than ever before.


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