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Heart Defects: Information on Causes, Diagnosis & Treatments

Problems With Heart Structure Congenital heart defects involve simple to complex abnormalities in the structure of the heart that the newborn presents at birth. In most cases, the defect changes normal blood flow through the heart muscle and can involve:

  • The heart's interior walls

  • The heart's valves

  • Veins and arteries returning blood flow to the heart or out to the body

Approximately eight out of every 1000 newborns are affected by congenital heart defects, meaning more than 35,000 American babies are born with a heart defect every year. Many defects do not present any symptom while others cause rapid breathing or cyanosis where the lips, fingernails and/or skin display a bluish tint. Highly complex heart defects require immediate medical attention to ensure the child's survival.

Most adults with a complex heart defect will survive long into their later years while living active lives. At some point, the defect may cause serious problems unexpectedly. According to the American Cancer Society, the most common congenital defects involving the heart muscle include:

  • Healthy Heart Function

  • Single Ventricular Defect

  • Pulmonary Valve Stenosis

  • Coarctation of the Aorta (COA)

  • Atrial Septal Defect (ASD)

  • Patent Ductus Arteriosus (PDA)

  • Ebstein's Anomaly

  • Complete Atrioventricular Canal Defect (CABC)

  • d-Transposition of the Great Arteries

  • Ventricular Septal Defect (VSD)

  • Tetralogy of Fallon

  • Single Ventricular Defects

  • Truncus Arteriosus

  • Total Anomalous Pulmonary Venous Connection (TAPVC)

What Causes Heart Defects?

According to the National Heart, Lung, and Blood Institute, doctors are not often sure why a child is born with a congenital heart defect. In some cases, the child's developed heart defect is the result of heredity, where a parent who has had a congenital heart defect passes the gene down to the newborn.

Some children with genetic disorders, including Down syndrome, are also born with a congenital heart defect. Statistics show that fifty percent of all newborns who have Down syndrome also were born with a congenital heart defect.

Researchers have also found a correlation between mother smoking while they were pregnant and the development of a congenital heart defect of their child at birth, including a septal defect.

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Heart Defect Symptoms

Many children and adults who have a congenital heart defect are never warned by any symptom, and the condition may not be identified even during a physical examination. However, other more complex heart defects do display symptoms which can often be severe. The most obvious heart defect symptoms include:

  • Rapid breathing

  • Shortness of breath

  • Overly tired (fatigue)

  • Diminished blood flow circulation

  • Cyanosis where the fingernails, lips, or skin turn blue

  • Sweating

  • Weakness

  • Nausea

  • Dizziness

Typically, the congenital heart defect will not produce painful symptoms including in the chest. However, many heart murmurs are the result of a heart defect that can be detected through a stethoscope as an unusual rhythm or extra heartbeat.

Doctors may notice detectable signs in newborns associated with heart defects when the baby fails to gain weight at a normal pace because they are not receiving adequate amounts of oxygen-rich blood flow to every portion of the body. The extra workload easily tires the child out and stunts their growth at a normal pace. Older children with the defect usually tire easily or quickly become short of breath while performing any minimal or excessive physical activity.

Many congenital heart defects can lay dormant for years and resurface through adulthood. Other defects and repaired during childhood can reappear and cause significant problems as the adult ages.

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Diagnosing Congenital Heart Defects

Many cases congenital heart defects are diagnosed early in life, at the time of the child's birth, or through their infancy. However, not all defects are easily detected until much later in life, when the child is older or has matured into adulthood.

Severe cases of congenital heart defects in children are detected within the first few months after delivery. Babies can develop a blue tint to their skin due to very low blood pressure or display signs of difficulty in breathing, or weight gain, or feeding issues. Many defects are minor in scope and do not require any repair or treatment. The doctor may detect a heart murmur in the child that may or may not be the result of a defect.

To diagnose a congenital heart defect accurately and precisely, a cardiologist or pediatric cardiologist will perform various tests to determine the future care is required. These tests can include:

  • EKG (electrocardiogram)

  • Chest x-rays

  • MRI (magnetic resonance imaging) scans

  • CT (computerized tomography) scans

  • Echocardiogram

  • Transesophageal echocardiogram (TEE)

  • Cardiac catheterization

  • Cardiac angiogram

Based on the results of one or more tests above, the cardiologist may determine that further diagnostic testing must be performed to monitor heart function. The further test to evaluate a heart defect could include:

  • Holter Monitor

  • Event Monitor

  • Implantable Event

  • Electrophysiology Study

  • Exercise Stress Tests

  • Trans-Telephonic Pacemaker

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Heart Defect Treatments

Many cases of congenital heart disease do not require surgery or any other invasive or noninvasive intervention. However, the cases that do require medical attention will be corrected with surgery, catheter procedures, and heart transplants or managed with medications. The level of treatment the patient receives is often dependent on the severity and type of the defect.

Catheter Procedures

Typically, the doctor will recommend a catheter procedure over surgery because it requires only the puncture of a needle through the skin to insert a flexible, thin tube catheter into an artery or vein. During the procedure, the tube is threaded through the blood vessel into the heart to correct the problem. The most common repairs made to the heart using catheter procedures involve defects include atrial septal defect and pulmonary valve stenosis. To ensure that catheter is guided correctly through the artery or vein into the heart will use coronary angiographic, transesophageal echo, and/or echocardiography.

Surgical Procedures

The patient might require open-heart surgery to fix the heart defect that cannot be repaired through catheter procedures. Based on the complexity of the defect, the patient may require multiple surgical procedures to ensure that the promise fixed correctly. Open-heart surgery procedures can repair heart defects including:

  • Replacing or repairing heart valves

  • Closing the hole in the heart using a patch or stitches

  • Widening heart valve openings and arteries

  • Repair blood vessel abnormalities due to malformation or malfunction

In rare incidences, doctors might be unable to repair the congenital heart defect in the newborn because it is too complex. In these cases, the baby typically undergoes a heart transplant.

Heart Transplant

During this complex surgical procedure, the patient will undergo a heart transplant where their art is removed and replaced with a donor's heart to improve blood flow and heart function. To ensure transplantation success, the donor's heart must be a perfect match to the recipient according to the child or adult's body size and blood type. In successful cases, the patient must take immunosuppressive drugs to prevent the immune system from rejecting the newly transplanted donor heart.

While all these procedures are effective at repairing or correcting simple to complex heart defects, the patient will be required to undergo routine checkups with a cardiologist to minimize the potential development of infections that could harm the heart muscle.

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