Genetic Disorders: Cardiofaciocutaneous Syndrome Essays

Hypertrophic cardiomyopathy is an inherited autosomal-dominant pattern affecting nearly 1 in 500 people, affecting both men and women equally. Which makes it the most “common genetic heart disease in the United States” [5] Many studies have been done on the causes of this disease. Research has shown the mutations of between 10 to 13 sarcomeric proteins are associated with HCM. Each mutated gene has a different pathological characteristic.

described the characteristics and symptoms of this disease and what exact organs it relates to.

A boy was born with this syndrome and had to be put on dialysis one year after being born for 10 hours every day for two years.

Most of the time, a child with this condition will have surgery as an infant to repair the defect. Surgery (arterial switch procedure) is the main treatment. It moves the arteries back to their correct position. Children who have surgery for this defect may be at greater risk for certain problems later in life, such as problems with heart rhythm or with heart pumping. Your child may need to see a heart specialist (cardiologist) regularly

and conditions and how it is treated. Articles from Cardiology in the Young (2014) give research

Congenital heart disease include many different types of defects. Some of these defects are simple, such as a hole in the septum. Others, are more complex and severe that include combinations of simple defects, problems with the location of blood vessels leading to and from the heart and other serious problems with the development of the heart. The different types of defects ranging from simple to complex are holes in the heart (septal defects or atrial septal defects-ASD), Patent Ductus Arteriosus (PDA-abnormal blood flow occurs between the aorta and pulmonary artery), Narrowed valves

A little girl by the name of Jaelyn was born with congenital heart disease (CHD). Jaelyn’s parents learned about her condition called Ebstein’s Anomaly during a fetal echocardiogram when her mother was only 30 weeks pregnant. The doctors and nurses at Cardinal Glennon Children’s Hospital monitored Jaelyn in-utero to watch for hydrops (heart failure) and other indications her heart disease was affecting her growth. Jaelyn went into heart failure just five weeks later when her mother was only 35 weeks pregnant. She was given a 5% chance of survival due to the severity of her defect. The family was also told Jaelyn would not survive past her first birthday; she turns five in March. When Jaelyn was born, her entire family was afraid she wouldn’t survive the delivery, but thankfully, Jaelyn’s story is a true miracle. When the doctors see Jaelyn during routine checkups and physician visits, they can’t believe she has Ebstein’s Anomaly because for how far she has come and how healthy she looks. Sadly, not every child with congenital heart disease gets the miracle Jaelyn has been given. Congenital heart disease has many causes that impact the child and

Cardiomyopathy is the deterioration of muscles within the heart which in turn causes the heart to become thick, rigid or enlarged; this physiological change causes decreased contractility and may lead to arrhythmias or heart failure (VanMeter and Hubert, 2013). In the case study, the client is a seven-year-old girl from Chetwynd who is recently diagnosed with dilated cardiomyopathy. When she was ten months old, she underwent a heart transplant for her hypoplastic left heart syndrome. Hypoplastic left heart syndrome is a complex and rare heart defect that is congenital, or present at birth, in which the left side of the heart is severely underdeveloped. The left ventricle is not functional and therefore the left side

The heart is one of the most important organs in the body. For most adults, the heart pumps 2,000 gallons of blood daily. Continually, 5 quarts of blood are circulated throughout the body. Imagine what would happen if your heart was defective? Ebstein’s anomaly is a rare heart defect that affects breathing and blood flow through the body due to deformities in the heart. This essay will explore the symptoms and treatments of this defect.

Congenital Heart Defect’s (CHD) affect about 1% of all births in the United States or about 40,000 babies per year (www.CDC.gov). Tetralogy of Fallot (TOF) is a CHD that accounts for an estimated 10% of these births. There are many factors that are involved in the diagnosis, treatment and quality of life for these children. The effects of the CHD vary in severity, therefore the effects it has on a child’s life vary. The etiology of TOF, how specific organs, cells, and tissues are affected, and what organ systems are affected will all be discussed and explained. . The effects vary greatly between patients this paper will focus on the average effects of this condition in order to provide a better understanding of TOF.

TCS is defined as an inherited condition in which some bones and tissues in the face aren’t developed fully. This affects not only the face but the head as well by causing downward-slanting eyes, small jaw and chin form as well as altering the development of facial tissues and bones. Some symptoms may also include hearing and vision loss. In some cases, babies that are born with this syndrome also have something called a cleft palate which means they are born with a hole in the roof of the mouth. Children born with this well also have difficult problems with breathing, chewing, speech, and swallowing.

Sometimes, the defect isn’t even noticed around birth and it might start to show up later in childhood. Unfortunately, symptoms might not show up at all. When found before birth, the defect can be found by a ultrasound. Bigger defects can be seen in the four chamber view while smaller defects are hard to come across. Symptoms for babies include poor eating, failure to thrive, fast breathing or breathlessness, not gaining weight and becoming easily tired. Adult symptoms include shortness of breath when you exert yourself or lie down, rapid or irregular heartbeat, and fatigue or weakness. All these symptoms depend on the size and the hole of the defect, and also if other heart defects are

Noonan syndrome, named eponymously for the pediatric cardiologist who first described it, is an autosomal dominant disorder (Gelb and Tartaglia, 2006). It affects 1 in 1,000–2,500 live births with no sex predominance, and is the most common syndromal cause of congenital heart disease, except for Down’s syndrome (Zaras, et al. 2015). This means that in order for the subject to obtain this order, he/she will have to inherit the mutated gene from at least one of their parents. Noonan syndrome causes its host to have abnormal internal and external bodily deformities. These deformities include, but are not limited to, unusual facial defects, heart abnormalities, short stature, delayed puberty among male subjects, sunken or protruding

In order for a person to live with this disorder they just need a little extra care and may need physical therapy. This disorder usually occurs about 1 in 10,000 live births and tends to appear more frequently in females rather then males. Personally I would think this is a negative mutation for many reasons. First it could be life threatening because it gives the person with the disorder major feeding disorders so they could be malnourished and heart issues. Also they have developmental delays.

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