Congenital Anomalies In The Heart Biology Essay

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This article review examines the topic on congenital anomalies in relation to the heart. The first thing presented in this article includes the introduction leading to general information about Congenital anomalies. Next, the article will get into specifics of Congenital anomalies covering information about causes of development, genetic disorders pertaining to congenital anomalies, other contributing factors, diagnose, and treatment for congenital anomalies.


The word congenital mean birth and "anomalos" mean "uneven" or "irregular" from the Greek word "anomaly". Congenital anomalies are mental or physical abnormality from normal pattern of development that occurs before birth or during the first year of a newborn's life. Congenital anomalies are broken down into two subgroups, minor and major anomaly.


Minor anomaly is an unusual anatomic feature that is not a serious medical or cosmetic consequence. Although, minor anomalies may not be major they are indicators to other medical issues. Some types of minor physical anomalies are low-seated ears, single transverse palmar crease, telecanthus, microngnathism, and furrowed tongues. Minor anomalies are genetic basis but factors in the fetal environment like anoxia, bleeding, or infections are causes. People with high minor physical anomalies develop Schizophrenia spectrum disorders often then no mental illness outcome. Schizophrenia is a mental illness that occurs between the time of late adolescence and early adulthood. Symptoms of an individual with this illness are delusions, hallucinations, bizarre behavior, disorganized speech, negative symptoms.


Major anomaly, unlike minor anomaly is a birth effect causing serious medical and cosmetic consequence that needs immediate attention. Any individual can have possible Major anomalies without having a type of syndrome or disorder. Nevertheless, a few major anomalies present in an individual's clinician may suggest that a syndrome or association. Particular major anomalies are related to with certain syndromes or isolated findings. Some examples of major anomalies defects are cleft lip or palate.


Genes are located in pairs of threadlike bodies called chromosomes, positioned in the nucleus of cell body. Genes determine the characteristics that each individual who is born will encounter. Traits from these genes explain how we look, function of chemical substances in the body, the ability to inherit any health issues and birth defects that establishes abnormalities.

Heredity is a key factor that passes birth defects from generation to generation. Birth defects that are inherited from flaw genes of one or both parents determine the conditions the baby will receive. The gene will not affect every member of the family but continue to pass on throughout the years.

Mendelian inheritance patterns

Mendelian inheritance method shows the simplest patterns explaining how dominant or recessive genes are transmitted.

A child has two set of inherited genes from each parent. If a defective gene from one parent is dominant, the child is at risk of the defect if one copy of the gene is inherited. Reasoning for this situation deals with the fact that the gene is "dominant" and is greater then a normal gene inherited from a parent. If a defective gene is recessive, the child will need two inherited genes in order to attain the defect. The defective recessive gene from one of the parents will allow the child to remain health, but defective copies of the gene will be passed down to and from his or her children.

Hereditary defects however are not passed solely on dominant, recessive genes, or genes located on X chromosome, but also produced by multiple faulty genes.


There are many causes of congenital anomalies, some are known and unknown (Gale, 2005). Congenital anomalies are developed by four major types: malformations, deformations, disruptions, and dysplasias (Gale, 2005).



Any abnormality in the shape or structure of a body part, organ, or large section of the body from an intrinsically dysfunctional developmental process is a malformation (Gale, 2005). Which genetic instructions are developed due to faulty, interfered with, or both (Gale, 2005). Genes responsible for embryonic or fetal development have general or specific influences (Gale, 2005). Multiple major and minor malformations in variety of anatomic locations, are characterized by many inherited genes and most chromosomal disorders (Gale, 2005). Disorders that are genetic bases are described by a specific group of anomalies that frequently occur in a certain condition is known as a syndrome (Gale, 2005). Malformations without consistent genetic patterns or teratogentic causes are consider associations (Gale, 2005). However, malformations without patterns tend to follow multifactorial inheritance pattern, involve incomplete morphogenesis of midline organ or structure (Gale, 2005). They may occur in syndromes and relative to a variety of malformations types causing major or minor changes in the body, structure or organs (Gale, 2005)



Anomalies in the form, shape, position of body part or section from mechanical forces on the embryo or fetus are defined as a deformation. (Gale, 2005). The causes of deformations can be extrinsic or intrinsic (Gale, 2005). Extrinsic are outside the fetus and causes include breech presentation, uterine malformation, and multiple pregnancies (Gale, 2005). Intrinsic are internal and factors include neuromuscular disease, connective tissues defects, and kidney malformations (Gale, 2005). Common types of deformations, dealing with both extrinsic and intrinsic, are joint contractures (Gale, 2005). The fetus need available space to flex and extend joints as the fetus grows (Gale, 2005). Without this distance joints become contracted in position (Gale, 2005).


A body structures or organs anomaly from extrinsic factor interfering or disrupting a normal developmental process is a disruption (Gale, 2005). A disruption can occur when with certain types of maternal infection or drug during a significant time during pregnancy (Gale, 2005). The infection or drug could disturb the development process in specific fetal tissues (Gale, 2005)



Abnormal organizations of cells in particular tissues type or abnormal morphological development consider dysplasias (Gale, 2005). They are mainly genetic bases and examples are skeletal dysplasias, ectodermal dysplasias, and renal dysplasias (Gale, 2005).



One out of every 115 births in the United States congenital heart defects occur. Congenital heart defects are common and responsible for killing babies during first year of life. These heart defects may be mild and go undetected for years or fatal. Babies with heart defects usually are born with a bluish tinge around lips and finger. This signal shows that the body is not receiving enough oxygen. The blue color of the baby may disappear after birth indicating everything is normal or preside. If the blue color remains, further examination will be required to determine the nature of the heart defect. Other signs of heart disease are breathing difficulties, low blood pressure shortly after birth, and poor weight gain.

Atrial septal defect

Artial septal defect is a hole in the septum, located in the muscle wall separating the right chamber of heart from the left chambers (kidshealth, 2010). Usually it is referred to a "hole in the heart" (kidshealth, 2010). Babies born with this defect leaks blood back from the left side of heart into the right (kidshealth, 2010). This defect can be major or minor, minor defects will result in fewer problems (kidshealth, 2010). However, if there is larges amounts of blood leakage, the heart will become bigger (kidshealth, 2010). Pressure is greater in the left side of the heart and blood from the hole is push from left to right (kidshealth, 2010). An enlarged atrium may result from this issue (kidshealth, 2010). Children with this problem have trouble breathing and do not grow normally (kidshealth, 2010).


Normally, the fetal heart has a hole called the foramen ovale between the left and right atria before birth (kidshealth, 2010). After birth this hole closes, if the hole does not close completely the problem is called ostium secundum defect (kidshealth, 2010). Ostium secundum is the most common artial septal defect but other kinds of defects are ostium primum defect and sinus venosum defect (kidshealth, 2010). Every type of atrial septal defect is associated with a hole in areas of the atrial septum (kidshealth, 2010).

Symptoms of ASD (atrial septal defect) are shortness of breath, trouble breathing, palpitations, or failure to grow normally (kidshealth, 2010). ASD is present in birth, but the symptoms do not show up during childhood (kidshealth, 2010). Problems are likely to rise over time as the right atrium enlarges (kidshealth, 2010). Results of adults dealing with ASD may encounter arrhythmia, or heart failure (kidshealth, 2010).

Approximately, 40% closure of atrial septal defects close themselves before the child is two years of age (kidshealth, 2010). After this period, natural closure is rare. Due to this, surgery is advised in serious cases when the right side of the heart is enlarged (kidshealth, 2010). The surgery will cover the hole with a patch. Sometimes the doctor may do a catheterization procedure, in which the hole is covered without open-heart surgery (kidshealth, 2010). In this procedure a tube, called catheter, is inserted into usually the groin area and guided to the artery up to the heart (kidshealth, 2010). Occlusion devices are then used to close the hole. The surgery is 99% successful in many cases (kidshealth, 2010). Surgery for children will allow the enlarged heart to become normal within four to six months (kidshealth, 2010).

Congenital heart defect

Congenital heart defect are the most common type of major birth defect that is present at birth dealing with the structure of the heart. During the time of development, the increase of defects are more frequent. These defects are occur in the valves, walls, and arties and veins near the heart. Congenital heart defect can be classified as a disruption because it can disrupt the flow of blood through the heart. The disruption can slow down, go in wrong direction or wrong place, or be blocked completely.

To cure this defect surgery, other medical procedures, heart transplants, or medicine prescriptions are all options to treat congenital heart defect. Treatment is decided on the type and severity of defect, age, size, and general health of the child. The positive side is that many children who deal with complex heart defects have pleasant lives in adulthood.

Coarctation of aorta

A coarctation occurs when part of the aorta is curved affecting blood circulation and causing the left side of the heart to work harder (kidshealth, 2010). The narrowing of the aorta may be minor (little to no symptoms) or constricted (putting a strain on the left ventricle) (kidshealth, 2010). Coarctation can be found anywhere in the aorta but is normal found after blood has passed through the arties and to the upper body from the aorta (kidshealth, 2010).

Like many congenital anomalies, coarctation is unknown for its occurrence and takes place during period of birth (kidshealth, 2010). Boys and girls with Turner syndrome are more likely for COA (coarctation of aorta) (kidshealth, 2010). Other birth defects, congenital heart conditions, and abnormalities in the structure of the left side of the heart may be associated with COA (kidshealth, 2010). One common association is the bicuspid aortic valve (kidshealth, 2010).

Symptoms of COA are abnormal blood pressure, higher blood pressure in the arms then legs, or weak pulse in the groin area (kidshealth, 2010). Children who have COA often do not have symptoms but mild signs (kidshealth, 2010). Children who do have symptoms experience cold legs and feet, chest pain, and shortness of breath during physical activity (kidshealth, 2010).

Babies or young children are diagnose with COA early on, though, COA may be diagnose as a teen or adulthood (kidshealth, 2010). Narrowing of the aorta is less severe at a younger age then causing hardly any severe symptoms (kidshealth, 2010). Special attention is advise even if major symptoms do not arise (kidshealth, 2010). Any severe coarctation after birth are diagnosed immediately and repaired through surgery (kidshealth, 2010). Older adults should be treated quickly for COA to decrease chance of high blood pressure and enlargement of the heart (kidshealth, 2010). Dissection or rupture of aorta is resulting factors of this defect (kidshealth, 2010). Simple options to treat COA consist of surgery or other procedures (kidshealth, 2010). Most common ways to fix narrow curve of the aorta is different types of surgery that remove narrow section and reconnect two ends of aorta (kidshealth, 2010). Two well-known procedures that the doctor may choose to do is balloon dilation or balloon angioplasty (kidshealth, 2010).


In conclusion, congenital anomalies are simply birth defects. They are characterized by minor or major anomaly, indicating the seriousness of the defect so evaluation for a plan of treatment can be easily determined. Many birth defects are either hereditary or produce because of multiple faulty genes. Congenital anomalies have unknown and known causes, but the four major development types of birth defects are malformations, deformation, disruptions, dysplasias.

Congenital heart defects occur once out of every 115 births, they are common and responsible for killing many babies during their first year of life. Heart defects ranges from minor to fatal depending on the type of defect. Warning of any signs of an infants body not receiving enough oxygen, changing their lips and fingers into a bluish tinge color may suggest heart defect depending on disappearance rate.

Several heart defects elaborated on in this journal article were artial septal defect, congenital heart defects, and coarctation of aorta. Each defect can be classified as major or minor anomalies and from each description of the defect; development of each according to the four major types could be decided. The heart defects explain symptoms founded, diagnosis, and treatment that could resolve the issue.

The purpose of this article was to help show the effectiveness of the heart in relation to other medical issues. Each congenital defect represented in this paper explained how interruptions of the flow of blood would affect an individual. In order to understand what congenital anomalies were, the journal article was broken down to help you distinguish different anomalies by major or minor, hereditary factors, and causes of development.

One insight that could be gained from this article was to understand how important every part of the heart is valuable to the distribution of blood. Each part of the heart serves significance and without each part, the flow of blood would be impossible.


n.a. (n.d). Birth defects. Retrieved from http://www

Kids health (2010). Coarctation of the aorta. Retrieved from

n.a (n.d). Birth defects-causes of defects, physical birth defects, hereditary diseases and syndromes. Retrieved from

Gale, T. (2005). Genetics and congenital anomalies. Retrieved from

Kids health (2010). Atrial septal defect. Retrieved from

(kidshealth, 2010)

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