Tetralogy Of Fallot Case Study

Congenital heart disease is a cardiovascular condition resulting from an abnormality in the structure of the heart. The exact time this defect forms is unknown but it is during the fetal development in the womb. Researchers think the defect could be case partially by genetics and medical conditions of the fetus and the parents. If the baby’s mother had rubella, while pregnant or other conditions such as diabetes could have caused the defect. Some medications that were taken by a pregnant mother could also have caused birth defects. An error on chromosome 22 could also have caused the heart defect. Some symptoms that a person may have a congenital heart may not show up until later in life but many children also have the symptoms. Symptoms of a congenital heart defect are abnormal heartbeat, bluish tint to skin, shortness of breath, dizziness or fainting, and swelling of body tissues and organs.

genes out of 100,000 that make up who we are. This is caused by the genes

One of the most common surgeries performed on babies is called Esophageal Atresia/Tracheoesophageal Fistula. That is just the medical term for when a baby is born with a defect in their esophagus and trachea and needs to have it repaired. About 90% of babies are born with this condition. It occurs in 1 in 3,000 to 5,000 newborns. The good thing is that since it happens so frequently, the survival rate is almost 100%. The most rarest condition is ectopia cordis. That is when a baby is born with their heart outside of their chest. Ectopia Cordis occurs 8 per one million live births. The survival rate is very low. 90% of the babies are either stillborn or pass away within the first week of being out of the womb.

A ventricular septal defect or VSD is a heart defect. It’s congenital, this means that a baby is born with it. It is an opening or hole in the dividing wall called the Septum, between the two lower chambers of the heart, right and left ventricles. Ventricular septal defects are the most common type of congenital heart defects. A VSD allows oxygen-rich blood to pass from the left ventricle through the opening in the septum. Then it mixes with oxygen-poor blood in the right ventricle. There are different types of ventricular septal defects, the type your child has depends on which part of the wall between the ventricles is involved. Also the size of the opening or hole varies. A ventricular septal defect may occur more often in some families, this is because of gene defects. But most of the time, the cause is unknown. Similarly to ventricular septal defect, an Atrial septal defect is a birth defect of the heart in which there is also a hole in the wall in the septum, but instead of dividing the lower chambers it divides the upper chambers of the heart (atria), here a hole can vary in size and may close on its own or may require surgery as well. An atrial septal defect is one type of congenital heart defect, in which also the baby is born with it.

In 1993 it was discovered that a segment of DNA on the arm of chromosome 4 is linked to the HD gene. They found that at one end of the HD gene, the combination CAG is repeated too many times. In people without HD this CAG is repeated 5 to 35 times. In people who are affected by HD, CAG is repeated over and over again between 36 and 121 times.

Tetralogy of Fallot (ToF) is a rare, complex congenital heart defect. It occurs in about five out of every 10,000 babies. When babies are born with ToF, they have four different heart problems:

It is caused when an individual inherits a faulty gene, CFTR, from each parent ("What Is Cystic Fibrosis?," 2013). It is the most common lethal genetic disease that affects white children, impacting more than 30,000 children and young adults in the United States (Kowalczyk, 2014, p. 75), (Jr., 2014).

An African American baby boy was born at one hospital but transferred to another hospital due to his critical condition. Now two months old, this baby boy’s Chief of Complaint is he was born with Dextrocardia or is also known as Detroversion, Dextroposition or Dextrorotation. He is 51 cm long and weighs 5.11 kg and for long-term care he was trached on 10/16/14. This baby boy was also born with HLHS (Hypoplastic Left Heart Syndrome). This patient is suspected of having CF but further tests need to be performed before conformation.

Critical Congenital Heart Defects are abnormalities of the heart structure that are present at birth. These occur because of incomplete or abnormal development of the fetus’ heart. These defects can cause severe mortality within the newborn stage (Goldstein, 2013, p.1). Several are known to be linked to genetic disorders such as Down syndrome and others are thought to be linked to environmental factors that women can be exposed to while pregnant. The cause of most CCHD’s is unknown.

6 days old female with TOF, pulomanry atresia large VSD, right sided aortic arch with mirror image branching, left sided large PDA originating from the left innominate artery, confluent PA branches, and no significant AP collaterals.

Autosomal recessive means that both parents must pass down the recessive gene for the offspring to have this disorder. These are then usually passed by two carriers. They then have one recessive gene and one dominant gene for CF. Two carriers have a 25 percent hazard of having an unaffected toddler with two regular genes, a 50 percent risk of having an unaffected toddler who is also a carrier, and a 25 percent danger of having an affected infant with two recessive genes (MFMER,2016). There is an abundance of symptoms that you have to go through if you are diagnosed with CF. CF causes the respiratory system, digestive system, and reproductive system many complications (Cystic, 2016). Symptoms may consist of very salty-tasting skin, relentless coughing, lung infections, wheezing, shortness of breath, poor growth, and even weight gain with a healthy diet (About). Symptoms can start from a very young age and there is several tests that doctors can do to confirm the

Congenital heart diseases (CHDs) are the most prevalent of all birth defects and the leading cause of death in the first year of life, (1) with an annual prevalence ranging from six to twelve affected infants per 1,000 live births. (2)

According to the text approximately 1, 966 babies are born with Atrial Septal Defect. People who have this disorder are dealing with this everyday of their life. Since Atrial Septal Defect is a heart condition, the symptoms and treatment have an impact on everyday life.

Several studies have suggested that PDA occurs in premature babies due to the lungs being underdeveloped and poor metabolizers of prostaglandins. Other risk factors that may be associated with an infant having a PDA is a positive family history of cardiac defects and genetically linked conditions like Down syndrome. Maternal infection with German measles during pregnancy can cause damaging effects to the fetal heart and circulatory system and put the infant at greater risk of acquiring a PDA. Studies have also shown that children born at higher altitudes have an increased susceptibility of having a PDA.

Content: Our group was assigned velocardiofacial syndrome (VCFS). I was excited to receive a syndrome to which I had not been exposed. I was assigned etiology, history, and incidence/prevalence. I learned that VCFS originates from the Latin words “velum” which means “palate,” “cardia” which means “heart,” and “facies” which means having to do with the face. It is the most common syndrome associated with cleft palate! Additionally, VCFS is an autosomal dominant condition. This means that once a person is recognized as having VCFS, they have a 50 percent chance of passing the syndrome on to their offspring. VCFS is characterized by a small deletion of chromosome 22, more specifically in the region of 22q11.2. This deletion results in about 30 genes becoming absent from chromosome 22. Two genes in particular-COMT and TBX1-are associated with VCFS (not all genes that cause VCFS have been identified). However, I am not sure why these genes are involved. I tried to research the reason, but could not find a plausible explanation. I also learned that more often than not, neither parent of a child with VCFS has the deletion of 22q11.2. This means that the condition is NEW in 93 percent of offspring. The good news is that the chance for the couple to produce another child with VCFS is close to zero. The deletion occurs as an accident when either the egg or sperm is being formed, OR early in fetal development. Angelo DiGeorge, MD, is one of the people