Marfan Syndrome Report

Week five I wrote about a sperm bank that lost a deceased man's vials of sperm. Grief, sorrow, and suffering were all feelings felt by Sarah Robertson after the loss of her 29 year-old husband, Aaron Robertson. Aaron had passed away from a rare genetic disorder known as Marfan Syndrome. Sarah mourned the death of her husband, but had somewhat comfort in knowing that six vials of her deceased husbands sperm were safely stored at the Reproductive Fertility Center in Los Angeles. As time went on since Aaron passed, Sarah felt she was ready to put his vials of sperm to use. Devastating news awaited Sarah as she was told that all six vials had been reported missing. Sarah and her in-laws are suing the LA clinic and Dr. Peyman Saadat, the owner.

If MCI wants to issue $500 million of 20-year subordinated debentures, we first calculate the interest payment, which is $62.5. The total interest payment would be $116.6 by adding up the previous net interest, so we can calculate the interest coverage ratio by dividing the operating income in 1983 by the total interest payment, which is 2.53. Then we look up the

Morquio syndrome is when the metabolism does not have enough or is missing a substance. These molecules are called glycosaminoglycans. When the body does not produce enough enzymes, serious problems can happen. Morquio A is a recessive inherited disease. Most of the time the disease shows up in 2 to 3 year olds.

It was a week of constant pain stirring throughout my left leg, I didn’t think much of it, “it’ll go away in a week” I told myself. The following day I noticed the sudden swelling of my lower leg, and with that a flood

What do Michael Phelps, Abraham Lincoln, Osama Bin Laden all have in common? They are all diagnosed with Marfan Syndrome which is a disorder of the connective tissues in the body. It is estimated that about 1 in every 3000-5000 people in the world is diagnosed with this disorder (Frey, 2005), that means about 140 000 000 to 233 333 333 people around the world’s population live with the struggles brought by Marfan syndrome. It may not seem like a big deal since so little of the world is diagnosed, but Marfan syndrome can cause some serious life-threatening symptoms. This report will explore the ins and outs of Marfan syndrome, from what it actually is to diagnostic and treatment techniques.

Anna Stork is a 72-year-old white female who was diagnosed with congestive heart failure 2 years ago. She has periodic exacerbations of CHF requiring numerous hospital admissions in the last six months. She has been followed by the Medical Center of Trinity Hospital cardiologist, Dr. D. Patel since the diagnosis. Anna’s past medical history is significant for anterior MI approx. 5 years ago, stent implanted, atrial fibrillation, arthritis, IAD and pacemaker implanted, and CHF. Her surgical history includes; stent, IAD, and pacemaker implanted. She denies any allergy history.

Marfan Syndrome, which is named after Antoine Marfan who first described the disorder in 1896, is a genetic disorder that affects the connective tissues found throughout the body. This syndrome can affect many different parts of the body, but the most commonly affected are the heart, blood vessels, bones, joints, respiratory system, nervous system, and eyes. Thankfully, a person’s intelligence is never affected. Marfan syndrome affects people from all races and ethnic backgrounds, and this often makes it hard to detect. It is a pretty rare genetic disorder affecting only about 1 in every 5,000 people.

Marfan syndrome is a genetic mutation of the FBN1 gene which codes for a protein that contributes to the connective tissue in the body and releases certain growth hormones (Callewaert et al., 2007). A mutation in this gene contributes to a variety of signs and symptoms usually involving skeletal deformations like long bone overgrowth, causing elongated limbs and spinal conditions like scoliosis and kyphosis (Callewaert et al., 2007). Retina detachment is common in those with Marfan syndrome and cardiovascular complications may include aortic dilation, dissection and rupture and up two thirds of patients develop mitral valve dysfunction (Callewaert et al., 2007). R.C. has experienced detached retinas,

Marfan syndrome is a primarily an autosomal dominant disorder that affects 1 in 5000 people worldwide. Marfan syndrome is connective tissue disorder that results in a mutation in the Fibrillin 1 gene. The life expectancy of an individual with Marfan syndrome is close to normal with early detection, but Marfan syndrome still remains underestimated due in large part to characteristics similarities that are common in general public. This is compounded by the 25 percent of individuals with a new gene mutation on Fibrillin 1. It is imperative that nurses have a greater understanding of Marfan syndrome in order to facilitate a genetic referral for an early and accurate Marfan syndrome diagnosis. This should include the mechanism of how this

You had a recent episode of lower leg edema (swelling) which your primary care physician prescribed Lasix (medicine to get rid of fluid). You vital signs were within normal limits and there was no oxygen saturation (rest) provided. Your electrocardiogram (recording of your heart activity) was Sinus (normal). In emergency room you received 30 milligram of Lovenox (blood thinner) and Methylprednisolone (medicine to help with breathing). You were admitted, started on aspirin, Cardiac enzymes (test) were done and your first troponin (test) was negative (no other results provided). You were continued on Prednisone (medicine) 10 milligram daily; restarted on Coumadin (blood thinner), Diltiazem (medicine), and a low salt diet was recommended as well as you received Albuterol via a nebulizer (breathing treatment) every 4 hours. Your pulmonary (breathing specialist) consult states that the shortness of breath was most likely due to deconditioning (changes in body with inactivity), obesity (over weight), and less likely due to Sarcoidosis (inflammatory disease). Chest pain syndrome was musculoskeletal (muscle-bone) in origin as it was reproducible (pain present when area is pushed

She was born with Tricuspid Atresia, Vetricula Steptum Defect, along with a Mirtral valve defect and numerous other medical issues. Tricuspid Atresia is a complex heart defect that occurs when the right ventricle in the heart fails to develop correctly during development in the womb. In Smilie’s case, it caused her to have little to no function in the right ventricle of the heart. To save Smilie’s life, doctors at the Prince Charles Hospital preformed a 3-stage surgery over 2 years to redirect blood flow within her body. Smilie had the BT Shunt at a few days old, the Hemi Fontan at 6 months old and the Fenestrated Fontan completed at 2 years of age. Smilie now has Hyploplastic Right Heart Syndrome as a result, which is a generalised term used to encompass the many conditions that can cause a lack of development in the Right Ventricle Side of the heart.

I was born in 1998 with Patent Ductus Arteriosus (PDA). The ductus arteriosus is only open when a child is in the womb and should close after birth to prevent the oxygenated blood from mixing with the deoxygenated blood in the heart. PDA put a tremendous strain on my heart and lungs and not too long after birth; the doctors put me on a ventilator. A surgery was suggested, called PDA ligation, which involved closing the PDA with a small clip. The doctors had explained to my parents that the surgery may not be successful and if it was, there could be certain lasting effects such as being blind, deaf or mental retardation.

Marfan syndrome is a genetic illness with significant morbidity and death (1). Prevalence appears to be similar across the world, regardless of gender, and the estimate in the European countries is 1 in 10,000 (2). The average expectancy used to be 32 years, but improved surgery increase life expectancy to approach that of the entire population (3). The level to which individuals are affected differs and those with the syndrome tend to be tall, thin and with long legs, arms, fingers as well as toes (4). It is important to discuss the symptoms, pathogenesis, diagnosis, and management of the syndrome.

While the majority of students spent their spring break on a warm beach, under the swaying palm trees, I was bed ridden. I had only spent a mere three days at home before I, as per usual, sustained yet another injury. One of my core values is living a healthy lifestyle, and to do so I like to run on the treadmill or track for three miles each day. As I was carrying out my normal routine at the local gym, I started noticing my breathing acting up. I was diagnosed with asthma during my eighth grade year, however my regular albuterol inhaler generally does the job. Not only was I having a very hard time breathing, despite the use of my regular inhaler, I actually began to have an asthma attack and slide right off the end of the treadmill. As humorous

Tayt Andersen is an 8 year old boy from Rigby, Idaho, but he isn’t like all the other little kids in Rigby. Tayt was born without the left side of his heart. And, at just seven years old, he has had nine open-heart surgeries, twenty-four shunt revision surgeries, and three other life-saving surgeries. He has been Life Flighted ten times, flat-lined six times, and has spent more than three-fourths of his life in hospital beds at Primary Children’s Hospital in Salt Lake City, Utah. (Embree)