Long QT Syndrome: Scared to Death

By: Pretty Momma

Imagine yourself as the parent of a child. Your hopes and dreams take shape as you see them grow and conquer their fears. You feel success from their successes and when they fall your heart aches to console them. Imagine yourself the parent of a young teenager. You see the frustration in them on a daily basis, trying desperately to cope with expectations, stress, and pressure in a rapidly changing environment, while they themselves are racing to grow into their own shoes. Imagine yourself as a proud, attentive mother of an athletic teenage son nearing the prime of his life. One morning you find that your son has slept in. You call and knock at his door to no response. You open the door, and panic, finding the son you have raised and nurtured, cared for, and disciplined lying lifeless and cold; a result of Sudden Arrhythmia Death Syndrome. Heart conditions such as Long QT Syndrome need to be advocated more for patient education to raise awareness in preventing such sudden deaths.

Long QT syndrome is a condition that affects the heart's rhythm that can cause fast and chaotic heartbeats. The heart can only beat erratically for so long before it causes sudden death. Prolonged QT, “LQTS” can be an inherited dormant error in a person’s genetic code or can be acquired due to certain medications and medical conditions. Inherited LQTS has been associated with 17 genes so far, with hundreds of mutations. Although genetic test can identify those with this disease, it does not pick up 20% of people who do have the disease. A known parent with LQTS has a 50% chance of passing the gene down to their child. LQTS may also be acquired. Acquired LQTS can be caused by certain medications of medical conditions. There are more than 75 medications that are known to lengthen the QT interval causing drug induced Long QT Syndrome (Mayo).

Often LQTS is discovered by accident by being picked up on an ECG. An ECG measures the electrical impulse as they travel through the heart. Long QT syndrome results from abnormalities in the heart’s electrical charging system (Mayo). Imagine each heart muscle has tiny holes called ion
channels. These holes open and close to allow important substances (sodium, calcium and potassium) to flow in and out of the heart muscle cells. In LQTS the holes in the cells that allow these important substances either do not properly open and close, or there is not enough holes to allow for the proper amount of substances or more through the cell to create the heart’s electrical activity (NHLBI).

A person with LQTS may not experience any symptoms and may be diagnosed posthumously. When diagnosis does occur it is usually after a person has some type of event such as: unexplained fainting, drowning or near-drowning (due to fainting while swimming) or unexplained cardiac arrest (NHLBI). This could cause a patient to seek diagnosis; however the first symptom could be the only symptom as LQTS can cause sudden death.

Treatments include education for awareness, lifestyle changes and medications. Lifestyle changes include avoiding medications that could cause prolonged QT intervals, staying well hydrated during illness, reducing loud or startling noises (including alarm clocks), staying away from situations that make you angry or excited, and avoiding prolonged strenuous activity (especially swimming). The most common medication class used for treatment is beta blockers. These drugs slow the heart rate and work by blunting the way the heart reacts to adrenaline, which can cause the heart to beat faster in times of fear, stress and/or exertion (Mayo). LQTS cannot be cured but these treatments can help to prevent these dangerous arrhythmias.

Long QT syndrome is an under-diagnosed disorder. The prevalence of LQTS is difficult to estimate. It may be expected to occur in 1 in 10,000 individuals. LQTS is more prevalent in female patients and usually presents in childhood, adolescence and early adulthood. Sudden death occurs more in boys than girls. LQTS is thought to cause about 4,000 deaths in the United States each year (Sovari).

To reduce the cases of sudden death by LQTS, first degree family members should be offered genetic testing, clinical evaluation, and treatment with the ultimate goal to prevent sudden death (Statton); this will identify those who have the genetic code for LQTS so they may take preventative measures to reduce their chance of this deadly arrhythmia. Raising awareness of this disease is paramount for individuals to gain the knowledge they need in order to watch for the tell-tale signs and symptoms in themselves and their family members. Once this disease is well known we can start to identify those who carry the gene, and we can create personalized medicine for each individual. This would help reduce the number of children suddenly dying at the hands of this disease.

References

Mayo Clinic Staff. (2015, October 27). Long QT syndrome. Retrieved February 10, 2016, from <http://www.mayoclinic.org/diseases-conditions/long-qt-syndrome/basics/definition/con-20025388>

NHLBI. (2011, September 21). Long QT Syndrome. Retrieved February 10, 2016, from
<https://www.nhlbi.nih.gov/health/health-topics/topics/qt>

Sovari, A. A., MD. (2015, December 31). Long QT Syndrome. Retrieved February 10, 2016, from <http://emedicine.medscape.com/article/157826-overview>

Statton, EL, IM Weston, K. Cederquist, J. Jonasson, BA Jonasson, S. Mörner, A. Norberg, P. Krantz, and A. Wisten. "Genetic Screening in Sudden Cardiac Death in the Young Can save Future Lives." Int J Legal Med (2015): 59-66. Jan. 2016. Web. 10 Feb. 2016. <http://www.ncbi.nlm.nih.gov/pubmed/26228265>

Sickle-Cell Disease

By: OMGmbz

Affecting approximately 90,000 to 100,000 Americans, Sickle Cell Disease (SCD) is a genetic disorder that affects hemoglobin in red blood cells. Though commonly found in people of African, Hispanic, Mediterranean and Middle Eastern ancestry, SCD is relatively rare. Because of its rareness, doctors may not know how to properly treat this disease or how to generate a cure. Nevertheless, more information about the disease is surfacing. Information such as the cause, treatment, and how common it is will help those affected better understand their disease and potentially improve their quality of life.

In order for your red blood cells (RBC) to carry oxygen to the rest of your body, the hemoglobin protein found in RBC must be soluble. Hemoglobin transports oxygen from the lungs to the rest of the body. Normal hemoglobin (hemoglobin-A) is smooth and round, allowing easily movement through the blood vessels. In people with sickle cell disease, there is a mutation in the hemoglobin-beta gene found on chromosome 11, which results in the production of abnormal hemoglobin molecules (hemoglobin-S). When hemoglobin-S is deoxygenated, interaction with other hemoglobin cells become hydrophobic, which trigger polymerization of deoxygenated hemoglobin-S allowing them to stick together. This creates their long, rod-like shape. These hemoglobin structures cause RBC to become stiff, maintaining their sickle shape. These irregular shaped cells can stick to the walls of the blood vessels, which can slow or block blood flow and oxygen to the rest of the body. It is like trying to spray water and sand through a hose. Some will get through, but eventually the sand will stop the water from escaping.

Some clinical manifestations of sickle cell disease include anemia, periodic pain, frequent infections, delayed growth, and vision problems. Anemia is a lack of healthy RBC in the blood. Sickle cells are fragile due to its shape. They break apart easily and die, leaving your blood with inadequate RBC supply. Because sickle cells die at a faster rate than normal RBC, a person with SCD is left with lasting anemia. This decreases the amount of oxygen in your body, which in turn can cause fatigue and potentially organ failure.

Episodes of pain can occur because sickle cells can block blood flow in tiny vessels in your chest, bones, muscles, and joints. Some people experience this pain for up to a few hours, while others experience it up to weeks. Depending on the severity, some people may need to be hospitalized.

Due to lack of oxygenated blood to the organs, the immune system may also be compromised. Organs such the spleen plays a vital part in your immune system. It helps fight infection. People with SCD are more prone to infections. In addition, vision problems can occur because tiny blood vessels to your eye can be clogged by sickle cells. This blockage can damage the retina, which is the part of your eye that processes images.

Because this is a genetic mutation of the hemoglobin- beta gene, it can be passed on to offspring. It is an autosomal recessive inheritance, which means that both parents must pass on the mutated gene in order for the child to be affected. If only one parent passes on the mutation, then the child will produce both normal and sickle cells. Though they have sickle cells in their blood, they usually do not show any symptoms.

As previously stated, approximately 100,000 Americans have SCD. The number of cases in the world is unknown. However, according to the CDC, SCD occurs in 1 out of every 500 African-American births, 1 out of every 36,000 Hispanic-American births, and 1 in every 12 African-American.

Unfortunately, there is no cure for SCD and because it is a genetic disease, there is no way of preventing it if you have the mutated gene. However, there are some treatments that could subdue the symptoms of SCD. Bone marrow transplant, though very difficult process and procedure, could help for the body to produce healthy RBCs, which can reduce some of the symptoms of SCD. Antibiotics and vaccines are used to help fight infections due to the compromised immune cells. Doctors may begin to administer antibiotics as early as 2 months and continue administering it until they are 5 years old. Pain relieving medications are used when patients are experiencing episodes of pain from the disease.

A new drug being studied is Hydroxyurea. Studies suggest that it could help reduce the frequency of pain and the need for blood transfusions. It seems to work by stimulation the production of fetal hemoglobin, which is found in newborns. It helps prevent the formation of sickle cells. However, this is still being tested.

Interventions can also be taken to help reduce the symptoms and prevent other conditions. Maintaining a healthy diet may reduce the risk of a stroke due to blockage. Exercise could increase circulation, and help reduce pain. Avoiding infectious areas and maintaining cleanliness could help prevent infections among other things.

It is important to understand as much as possible about the disease. Though there is no cure and it cannot be prevented, education can help those with SCD live a sustainable lifestyle. There are many sources that could help those with the disease deal with its ramifications. Studies today are focused on finding a way to alter this mutation, and hopefully prevent this disease.

References

Brousseau, D. C., Scott, J. P., Badaki-Makun, O., Darbari, D. S., Chumpitazi, C. E., Airewele, G. E., Panepinto, J. A. (2015). A multicenter randomized controlled trial of intravenous magnesium for sickle cell pain crisis in children. Blood, 126(14), 1651-1657. doi:10.1182/blood-2015-05-647107

Data & Statistics. (2015, July 08). Retrieved from http://www.cdc.gov/ncbddd/sicklecell/data.html

Epstein, F. H., & Bunn, H. F. (1997). Pathogenesis and Treatment of Sickle Cell Disease. New England Journal of Medicine N Engl J Med, 337(11), 762-769. doi:10.1056/nejm199709113371107

Rees, D. C., FRCP, Williams, T. N., PhD, & Gladwin, M. T., MD. (2010). Sickle-cell Disease. The Lancet, 376(9757), 2018-2031. doi:10.1016/S0140-6736(10)61029-X

Schultz, C. L., Tchume-Johnson, T., Schapira, M. M., Bellamy, S., Smith-Whitley, K., & Ellison, A. (2015). Adherence to prompt fever evaluation in children with sickle cell disease and the health belief model. Pediatric Blood & Cancer Pediatr Blood Cancer, 62(11), 1968-1973. doi:10.1002/pbc.25634

Sickle cell anemia. (2014, June 11). Retrieved from http://www.mayoclinic.org/diseases-conditions/sickle-cell-anemia/basics/prevention/con-20019348