Marfan Syndrome, A Simple Guide To The Condition, Treatment And Related Conditions
By Kenneth Kee
()
About this ebook
Marfan's Syndrome is an inherited disorder of the connective tissue involving the collagen and glyccosamino-glycans tissue.
It is characterized by generally weak connective tissue which includes muscles, ligaments and bones.
It is an inherited disease caused by an autosomal dominant gene.
Inheritance is passed to 50 per cent of offspring if one parent is affected and 100 per cent of offspring if both parents are affected.
Marfan’s Syndrome can also be from mutation of the genes.
People with Marfan Syndrome are usually exceptionally tall with long fingers and rather flat feet.
They may have a spinal curve (scoliosis) and be shortsighted
The two heart problems that are most serious are enlargement of the main body artery and leaky heart valves.
When the main body artery stretches (aortic aneurysm) it becomes weaker and blood can leak through the wall (dissection or rupture).
Another heart problem that can occur is leaking of the heart valves.
1. Long slender extremities with arm span exceeding height and long tapered fingers
2. Skeletal deformities include:
a. Kyphoscoliosis
b. Pectus excavatum
c. Long narrow face
d. High arched palate
e. Pronathism
3. Lax ligaments resulting in:
a. Hyperflexiblity of joints
b. Easily strained ligaments and joints
c. Flat feet
4. Eye problems:
a. Dislocation of lens due to lax ligaments
b. Myopia
5. Heart problems:
a. Dilatation of aorta
b. Dilatation of pulmonary artery
Diagnosis of Marfan's Syndrome is often based on:
1. Medical examination of appearance
2. Measurement of metacarpal index from X-rays
Ratio of length to midpoint width is greater than 8.5
3. Urinary hydroxyproline is excessive indicating increased collagen turnover
4. Genetic analysis
Treatment of Marfan's Syndrome includes:
1. Genetic counseling
2. Prevention of joint strains especially spinal joints
3. Beta blockers can reduce aortic blood flow and prevent dilatation of aorta
There may be a shorter life span because of heart and skeletal problems
TABLE OF CONTENT
Introduction
Chapter 1 Marfan Syndrome
Chapter 2 More about Marfan Syndrome
Chapter 3 Treatment of Marfan Syndrome
Chapter 4 Down Syndrome
Chapter 5 Klinefelter Syndrome
Chapter 6 Turner Syndrome
Chapter 7 Huntington’s Chorea
Epilogue
Marfan's Syndrome is an inherited disease
It causes the connective tissue an elasticity defect.
It is usually inherited from autosomal dominant conditions
Marfan Syndrome can also be the result of the gene mutations
It is characterized by generally weak connective tissue with great flexibility
Marfan Syndrome is usually exceptionally tall with long extremities
Marfan Syndrome also may have pectus abnormalities
Marfan Syndrome has a spinal curve called scoliosis
Marfan Syndrome also has eye problems such as eye dislocation
Some have heart problems such as abnormal valve and aortic dissection.
There is no cure in Marfan Syndrome, only prevention with genetic counseling.
Other treatment is dental care, physical exercise and preventive medicines.
-An original poem by Kenneth Kee
Kenneth Kee
Medical doctor since 1972.Started Kee Clinic in 1974 at 15 Holland Dr #03-102, relocated to 36 Holland Dr #01-10 in 2009.Did my M.Sc (Health Management ) in 1991 and Ph.D (Healthcare Administration) in 1993.Dr Kenneth Kee is still working as a family doctor at the age of 74However he has reduced his consultation hours to 3 hours in the morning and 2 hours inthe afternoon.He first started writing free blogs on medical disorders seen in the clinic in 2007 on http://kennethkee.blogspot.com.His purpose in writing these simple guides was for the health education of his patients which is also his dissertation for his Ph.D (Healthcare Administration). He then wrote an autobiography account of his journey as a medical student to family doctor on his other blog http://afamilydoctorstale.blogspot.comThis autobiography account “A Family Doctor’s Tale” was combined with his early “A Simple Guide to Medical Disorders” into a new Wordpress Blog “A Family Doctor’s Tale” on http://ken-med.com.From which many free articles from the blog was taken and put together into 1000 eBooks.He apologized for typos and spelling mistakes in his earlier books.He will endeavor to improve the writing in futures.Some people have complained that the simple guides are too simple.For their information they are made simple in order to educate the patients.The later books go into more details of medical disorders.He has published 1000 eBooks on various subjects on health, 1 autobiography of his medical journey, another on the autobiography of a Cancer survivor, 2 children stories and one how to study for his nephew and grand-daughter.The purpose of these simple guides is to educate patient on health disorders and not meant as textbooks.He does not do any night duty since 2000 ever since Dr Tan had his second stroke.His clinic is now relocated to the Buona Vista Community Centre.The 2 units of his original clinic are being demolished to make way for a new Shopping Mall.He is now doing some blogging and internet surfing (bulletin boards since the 1980's) startingwith the Apple computer and going to PC.The entire PC is upgraded by himself from XT to the present Pentium duo core.The present Intel i7 CPU is out of reach at the moment because the CPU is still expensive.He is also into DIY changing his own toilet cistern and other electric appliance.His hunger for knowledge has not abated and he is a lifelong learner.The children have all grown up and there are 2 grandchildren who are even more technically advanced than the grandfather where mobile phones are concerned.This book is taken from some of the many articles in his blog (now with 740 posts) A Family Doctor’s Tale.Dr Kee is the author of:"A Family Doctor's Tale""Life Lessons Learned From The Study And Practice Of Medicine""Case Notes From A Family Doctor"
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Marfan Syndrome, A Simple Guide To The Condition, Treatment And Related Conditions - Kenneth Kee
Marfan Syndrome,
A
Simple
Guide
To
The Condition,
Treatment
And
Related Conditions
By
Dr Kenneth Kee
M.B.,B.S. (Singapore)
Ph.D (Healthcare Administration)
Copyright Kenneth Kee 2014 Smashwords Edition
Published by Kenneth Kee at Smashwords.com
Dedication
This book is dedicated
To my wife Dorothy
And my children
Carolyn, Grace
And Kelvin
This book describes the Marfan’s Syndrome, Treatment and Associated Diseases or in vernacular terms
(What You Need to Treat Marfan’s Syndrome)
This eBook is licensed for the personal enjoyment only. This eBook may not be re-sold or given away to other people. If you would like to share this book with another person, please purchase an additional copy for each reader.
If you’re reading this book and did not purchase it, or it was not purchased for your use only, then please return to Smashwords.com and purchase your own copy.
Thank you for respecting the hard work of this author.
Introduction
Ode To Marfan Syndrome
Marfan's Syndrome is an inherited disease
It causes the connective tissue an elasticity defect.
It is usually inherited from autosomal dominant conditions
Marfan Syndrome can also be the result of the gene mutations
It is characterized by generally weak connective tissue with great flexibility
Marfan Syndrome is usually exceptionally tall with long extremities
Marfan Syndrome also may have pectus abnormalities
Marfan Syndrome has a spinal curve called scoliosis
Marfan Syndrome also has eye problems such as eye dislocation
Some have heart problems such as abnormal valve and aortic dissection.
There is no cure in Marfan Syndrome, only prevention with genetic counseling.
Other treatment is dental care, physical exercise and preventive medicines.
-An original poem by Kenneth Kee
Interesting Tips about the Marfan Syndrome
A Healthy Lifestyle
1. Take a well Balanced Diet
2. Treatment for Marfan Syndrome
a. Genetic counseling
b. Prevention of joint strains especially spinal joints
c. Beta blockers can reduce aortic blood flow and prevent dilatation of aorta
d. Dental Care
Children and adults with congenital heart disease are at an increased risk of having a heart infection.
Infections in the heart can occur for no apparent reason but are more common if the teeth are rotten
Good dental hygiene is therefore important as are regular visits to the dentist.
The usual method of avoiding this problem is to give a single dose of antibiotics one hour prior to the treatment to kill any germs beforehand.
Exercise
Children with Marfan Syndrome are restricted to light exercise (like golf, cricket) and should exclude contact sports.
3. Keep bones and body strong
Bone marrow produces our blood
Eat foods rich in calcium like yogurt, cheese, milk, and dark green vegetables.
Eat foods rich in Vitamin D, like eggs, fatty fish, cereal, and fortified milk.
Eat food rich in Vitamins B and C such as green vegetables and fruits
Zinc and other minerals are important to the body
4. Get enough rest and Sleep
Avoid stress and tension
5. Exercise and stay active.
It is best to do weight-bearing exercise such as walking, jogging, stair climbing, dancing, or lifting weights for 2½ hours a week.
One way to do this is to be active 30 minutes a day at least 5 days a week.
Begin slowly especially if a person has not been active.
6. Do not drink more than 2 alcohol drinks a day for a man or 1 alcohol drink a day for a woman.
Alcohol use also increases the chance of falling and breaking a bone.
Alcohol can affect the neurons and brain cells.
7. Stop or do not begin smoking.
It also interferes with blood supply and healing.
Cigarettes contain more than forty types of hazardous and possibly cancer causing chemicals which can harm the smokers and those around them.
Chapter 1
Marfan’s Syndrome
What is Marfan's Syndrome?
Marfan's Syndrome is an inherited disorder of the connective tissue involving the collagen and glyccosamino-glycans tissue.
It is characterized by generally weak connective tissue which includes muscles, ligaments and bones.
When a person has a syndrome they have similar characteristics to others with the same syndrome.
This may include their appearance and medical problems.
Syndromes are variable and it is unusual for someone to have all the characteristics.
They may therefore be only slightly affected.
It affects about 1 person in every 10,000.
What are the Causes of Marfan's Syndrome?
It is an inherited disease caused by an autosomal dominant gene.
Inheritance is passed to 50 per cent of offspring if one parent is affected and 100 per cent of offspring if both parents are affected.
Marfan’s Syndrome can also be from mutation of the genes.
Marfan’s Syndrome is a genetic condition and so there are often several people in the family affected.
The underlying problem involves the elasticity of