Faudzil @ Ajak

Faudzil @ Ajak
Always think how to do things differently. - Faudzil Harun@Ajak

31 December 2013

HEALTH INFO - 10 Reasons Why Morning Walks are Important for your Health

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Yes, I know. It sucks that you have to wake up early as it is, for school, for office,  without having to go for a walk too! But trust me when I say that if you could just put the laziness aside and go for a morning walk every day, your body and your mind will thank you. How so? Read ahead to find out.
10- Better Day
better day
“An early morning walk is a blessing for the whole day” said Henry David Thoreau. And how right was he! Starting your day with a brisk walk, or even a leisurely stroll around the neighbourhood has many benefits. It gives you a natural energy boost and you feel revitalized. Physical activity early in the morning is helpful because it ensures greater mental sharpness for the rest of the day. You also feel more active and fresh throughout the day, as opposed to when you feel lethargic because you wake up late. The temperature during the morning is conducive to exercising, with no sun to bother you. Moreover, you can use the time to plan out the rest of your day, allot a specific time to each task you plan to accomplish and sketch a schedule to follow.
9- Better Sleep
better sleep
A brisk walk early on in the morning ascertains that you sleep better at night. In a previous article of mine (Ten Ways to Sleep Quickly and Easily at Night), I have mentioned how physical activity during the day helps one sleep better at night. The same logic holds true here. Walking tires the body out and therefore, sleep comes easily when you hit the pillow at night. In fact, daily morning walks also help to regulate your sleep cycle as you get up at the same time every day. Brain scans have even proved that exercise early in morning helps a person spend almost 75% more time in deep sleep, in contrast to exercise done later in the day.
8- Reduces Risk of Cancer
The right kind of lifestyle can go a long way in making sure that your risk of developing cancer is lowered. Morning walks are a form of exercise, which, if undertaken regularly can lower cancer risks. A study by the National Cancer Institute found that walking briskly for one hour every day for most of the week significantly reduces breast cancer risk in middle aged women. Another study found that walking improves breast cancer survival rates. Fast paced walks also help to reduce the risk of colon cancer by ensuring that carcinogens do not stay in prolonged contact with the intestinal lining of the body, according to a study published in 1999.  Moderate exercise in the form of regular morning walks have been shown to reduce the risks of endometrial cancer. It is clear then that morning walks can help prevent the onset of cancer in the body, so wake up before it is too late. 
7- Weight Loss
weight loss
If you are obese or overweight, a morning walk can be very beneficial for you. Morning walks burn calories and improve the metabolism of the body. Both these processes are essential to lose weight. Go for a walk first thing in the morning, preferably before breakfast to improve your body’s metabolism. You can burn up to 100 kcal of energy every one mile you walk. Morning walks are more beneficial to the process of weight loss because in the morning, the glucose level of the body is low which means that it is the fat which burns. In the evening, when the glucose level is high, walking burns the glucose and reduces blood sugar level.
6- Diabetes and Hypertension
diabetes and hypertension
Walking is a form of exercise. Exercise burns glucose. Burning of glucose results in more utilization of insulin. This in turn improves blood sugar levels and help diabetics. Simple. Morning walks don’t just help patients manage their diabetes, they also prevent the onset of diabetes in healthy people. Walking 10,000 steps a day increases insulin sensitivity and reduces the Body Mass Index by one percent. In India, almost 51 million people suffer from diabetes. Morning walks can help prevent and control this disease. Walking lowers high blood pressure by improving blood flow in the body. Blood pressure control helps against hypertension. Walking just 20 to 30 minutes every day has a suppressing effect on hypertension. To keep these two diseases at bay, walk away.
5- Muscular Strength
muscle strength
Daily walks help improve muscular strength in the body by keeping the muscles in regular use. The muscles which benefit the most are in the calves, glutens, hamstrings, legs and arms. Walking tones the muscles of the thighs, arms, forearms, buttocks and legs. The shapely legs of people who walk regularly are a result of their toned calves. Moreover, walking doesn’t just build muscles but also helps in muscle endurance. This means that people who walk every morning can engage in physical exertion for a longer period of time without feeling tired. Ever notice how people who don’t engage in a lot of regular physical activity tire so easily? That is because they have low muscle strength and endurance. If you hate vigorous exercising but want to stay fit, going for a morning walk daily is an excellent substitute. This regular, moderate form of exercise ensures better muscle strength and endurance.
4- Brainpower
A quick paced walk right in the morning guarantees that you stay alert throughout the day. Along with your body, it energizes your mind as well. Walking improves blood circulation which means that a greater amount of oxygen reaches the brain. This leads to improved mental faculties and better powers of recollection. Researchers at the University of California, San Francisco even found out that age related mental decline is lower in people who walk daily. It also lowers the risk of Alzheimer’s and dementia in elderly people. But most importantly, exercise produces brain-derived neurotrophic factor : a protein that perks up mental acuteness. So put on the walking shoes every morning and walk your way to better mental health.
3- Overall Health
overall health
Besides the major ways in which diabetes helps improve health, here are some more advantages of talking a morning walk every day-
-          Raises good cholesterol HDL levels in blood
-          Lowers LDL or bad cholesterol levels
-          Prevents and protects against miscarriages
-          Muscular development combats back pain
-          Is a standard treatment for osteoporosis patients
-          Boosts the immune system
-          Strengthens the joints
-          Better sexual health
2- Less Stress
less stress
As mentioned earlier as well, morning walks are beneficial not only to the body but to the mind as well. Walking helps a person deal with stress and combat anxiety. The psychological health of a person thus benefits greatly from walking, and even helps provide a positive outlook to the whole day, first thing in the morning. Morning walks have been shown to improve self esteem, which in turn helps fight various psychological ill effects like depression (one major cause of depression being low self esteem) If you stick to your resolve and walk regularly ever morning, it will lead to better overall mood and fight mild depression. Various studies have proven that walking helps reduce the anxiety and depression. The regular rhythm of breathing while walking, the sensory distractions it provides, the release of pent up energy etc all contribute to enhance psychological well being. The release of endorphins provides a natural ‘high’ and improves mood. While walking is of course no substitute for medicines and treatment, it does help a person cop with psychological stress better.
1- Cardiovascular Health
cardiovascular health
If this does not push you into waking up early for a walk, I don’t know what will. The health benefits of taking a morning walk everyday are immense, the most important one being that it is good for your heart. In a world where approximately 40% of the population suffers from heart diseases, as little a change in your lifestyle as going for a morning walk every day can be helpful to keep the diseases at bay. Studies have shown that walking briskly, at 3 to 4 miles per hour, can decrease your risk of heart disease by 40%! Since physical inactivity is a major reason for heart diseases, walking ensures that your heart stays fit. The heart is an organ which is strengthened by regular activity which helps it pump blood better. Walking daily has also been shown to lower the risk of a second heart attack in people who have already suffered from one. The physical activity of walking is instrumental in improving blood circulation in the body, strengthening the heart, increases the heart rate and generally promotes better cardiovascular health. Morning walks thus reduce the chances of cardiac arrests and strokes. So stop hitting the snooze button and wake up every morning to take a walk. Your heart will thank you.

HR MANAGEMENT - Top 10 Ways to Keep Your Employees Happy

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In today’s world where we spend half our valuable lives at work, it has become highly important and a dire need to maintain our energy levels and our “happy quotient” until we get back home. How often do you see or hear people complaining about how they have no time for their families, or that their spouses are always in a bad mood when they get back.  Phrases like this are only increasing by the minute with the increase in work pressure and the lack of maintaining a work-life balance. Keeping this in mind it “somehow” becomes the work or rather duty of the employer to keep his employees happy, as their moods not only would be affecting their family lives but also the final output of the companies. So here come 10 basic rules on how to keep your employees happy and also maintain an incredible employee-employer rapport. This would not only uplift the mental spirits of everyone involved but also make a positive change with respect to the millions of lives who are involved directly or indirectly.

10) The attitude of gratitude:
10) attitude of gratitude.jpg
As cliche as this point may sound, sometimes or rather most times it is the only lifesavers that can save a sinking ship. Find reasons to thank your employees or just make them feel worthy (inspirations can be drawn from the, oh so many Cadbury adds on TV.)Try personalizing it with small perks, and don’t forget to add a touch of your individuality in it, be it motivating quotes at every nook and corner of your office or even one of those bells outside Pizza Hut that we ring, to show we enjoyed their hospitality! Constant appreciation would not only make people more positive at work but also help in their wholesome approach towards life. Remember anniversaries, birthdays etc and do respond appropriately. As hard as it may seem with having a huge number of employees under you, if you succeed at this, you are sure to win the hearts of your employees.

9) Surprise “urgent” meetings:
9) surprise urgent meetings.jpg
As shocking as it may seem, keep meetings (occasionally) where you won’t discuss anything related to work, but holiday plans, family occasions etc. This would not only increase the bond with you and the company but also help in indirect team building activities. Here, you no longer treat them as kids by throwing them into workshops but do the same in a more casual environment. This would also require smaller budgets as all you would be spending on is some fun games, tasty food and some good music and not boring long lectures and dry attitudes of the people present. Though keeping in mind that this cannot be converted into a constant affair as the seriousness at work could be completely lost. (If only, side effects didn’t count!)
8) Listen! Appreciate! Don’t steal ideas!
8) listen! appreciate! dont steal ideas.jpg
In meetings or discussions when the opinions of your employees are being considered make sure you’re “actually” listening to them and also providing them with honest feedback and compliments. Be open to suggestions even if you are not really for it. This gives your employees an opportunity to trust their instincts and also put forth their ideas without any fear of being ridiculed. You might acquire the best suggestions even from your janitor, if only, you are listening.
P.S creativity has no boundaries. All you need is a plain white canvas where the million colors in your head can be poured into! Your education degree cannot provide you with a cardinal measurement of your worth.
7) Compassion is simply, passion with a heart:
7) compassion is passion with a heart
Be compassionate and don’t always play the bad cop. Give the benefit of doubt to your employee in case of genuine problems. They don’t need your sympathy all they do need is an ounce of your empathy. You not only win their heart and respect but you also win an honest and sincere employee for life.
6) Recognize and appreciate excellence:
6) recognise and appreciate excellance.jpg
Conduct weekly or monthly award functions where the better performing employees are awarded. The prizes don’t always have to be fancy, just a simple and sincere form of you, acknowledging their value and the difference they make to your company. This may consume a huge chunk of your allowances and time but on the brighter side you are keeping your employees high spirited, positive and constantly motivated. What else can one ask for?
According to a survey, it was observed that employees who are happier perform at a rate that is consistently 10% higher than unhappy employees.
5) Happy sign boards and happy thoughts!
5) happy sign boards and happy thoughts.jpg
Always add a note of gratitude or a personalized quote in every draft or email that is on circulation. Remember everybody loves a little motivation, especially when special care has been taken to send out the message. Try and create an environment which is work friendly, imagination friendly and creativity friendly. This would not only encourage workers to bring out the best in them but also utilize the immense untapped potential in them.
Give creative titles, instead of the normal boring ones. For instance, the receptionist can be called “the smile inspector” or the manager “the cop on duty”! This not only lightens the situation but also helps to increase the bonds in the company. But do make sure the titles are not cheesy or offending in any manner, cause if they are you would be visiting the courts for a long time to come!
4) Always keep scope for improvement:
4) always keep scope for improvement
Ask for feedback regularly; also provide your employees with feedback. Tone and words used should be carefully measured in the process. Also do mention that although anonymity isn’t always encouraged in these issues, it will be considered is some serious cases.  
Note: Even the most sincere compliment can be mistaken for the worst example of irony or sarcasm, in a simple alteration of the tone of speech or the vocabulary used.
3) Your loss or gain is my loss or gain:
3) your loss or gain is my loss or gain
Make them feel equally responsible for the ups and downs that the company is facing. This way they would take every action of theirs more seriously and also make them take future steps more prudently. Make them “a part” of the family and not “apart” from the family.  Assure them their place at the same time also make the boundaries very clear. In all kindness, make sure that you or the company are not being taken for granted.
2) Sincere” I care attitude”:
2) sincere i care attitude
Take personal care and attention in resolving conflicts within the company, if it is not possible take at most care in assigning the job to individuals who can handle it. It is important you remember that a chain is only as strong as its weakest link. Thereby it is your duty and most important duty to maintain a positive and healthy environment among the employees working for you. Once this is taken care of, rest assured that the company is doing well.  Also always remember to remain unbiased if put in a situation like this. This is where your valuable psychology 101 classes come into use. Do not pass your judgement till you know for sure who and what is wrong.
When you do pass your “verdict” make sure you make it clear that nobody is right or wrong, it’s just the circumstances that make you right or wrong. You need to make sure that the person who has been wronged has been served justice, at the same time the person who has wronged should not be condemned or looked down upon, but simply corrected.
1) Play by the rules:
1) play by the rules
“We all are one, only egos, beliefs, and fears separate us”
The rules made should apply for everyone, including you. No exceptions. If you call for a meeting at 10am you ought to be there at 9.45am and not at 11am because you are the boss. Basic respect should be given to your employees and the rules apply to everyone present.
Make it clear that even though you are the boss you are not higher than anyone; you are simply the head of the family but still as essential and at the same time as equal as anyone else in the family.  
Stay friendly at the same time also remain stern when the situation calls for it.

10 GREAT FACTS A DAY - Part 120 (31/12/2013)

1191.            Using recycled aluminum cans and making news cans out of them saves 75%
    energy compared to making it from new material.

1192.            In a year, Americans eat approximately 20 billion pickles.

1193.            Althaiophobia is the fear of marshmallows.

1194.            There are are roughly 100 million single adults living in the USA.

1195.            In the year 2000, there were approximately 11,000 injuries that were treated in a
    hospital in the U.S. that resulted from fireworks.

1196.            Brazil is the largest producers of oranges in the world.

1197.            4% of an apples is made up of minerals and vitamins, and over 80% is made up
    of water.

1198.            From all the oxygen that a human breathes, twenty percent goes to the brain.

1199.            In 1902, the coat hanger was invented Albert Parkhouse who was frustrated at the
    lack of hooks available to hang up his coat at work. His company thought it was a
    good idea and patented the invention and unfortunately, Parkhouse never received
    any money for his idea.

1200.         If a statue in the park of a person on a horse has both front legs in the air, the person
    died in battle; if the horse has one front leg in the air, the person died as a result of
    wounds received in battle; if the horse has all four legs on the ground, the person
    died of natural causes.

30 December 2013

MARFAN SYNDROME - Genetics of Marfan Syndrome

Harold Chen, MD, MS, FAAP, FACMG  Professor, Departments of Pediatrics, Obstetrics and Gynecology, and Pathology, Director of Genetic Laboratory Services, Louisiana State University Medical Center 


Marfan syndrome is an inherited connective-tissue disorder transmitted as an autosomal dominant trait.
  • It is noteworthy for its worldwide distribution, relatively high prevalence, clinical variability, and pleiotropic manifestations, some of which are life threatening.
  • Cardinal features of the disorder include tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection.
  • About three quarters of patients have an affected parent; new mutations account for the remainder.
  • Marfan syndrome is fully penetrant with marked interfamilial and intrafamilial variability.


Marfan syndrome results from mutations in the fibrillin-1 (FBN1) gene on chromosome 15, which encodes for the glycoprotein fibrillin. Fibrillin is a major building block of microfibrils, which constitute the structural components of the suspensory ligament of the lens and serve as substrates for elastin in the aorta and other connective tissues. Abnormalities involving microfibrils weaken the aortic wall. Progressive aortic dilatation and eventual aortic dissection occur because of tension caused by left ventricular ejection impulses. Likewise, deficient fibrillin deposition leads to reduced structural integrity of the lens zonules, ligaments, lung airways, and spinal dura.
  • Production of abnormal fibrillin-1 monomers from the mutated gene disrupts the multimerization of fibrillin-1 and prevents microfibril formation. This pathogenetic mechanism has been termed dominant-negative because the mutant fibrillin-1 disrupts microfibril formation though the other fibrillin gene encodes normal fibrillin. This proposed mechanism is evinced by the fact that cultured skin fibroblasts from patients with Marfan syndrome produce greatly diminished and abnormal microfibrils.
  • FBN1 mutation causes several Marfanlike disorders, such as the mitral valve prolapse, aortic dilation, skin, and skeletal (MASS) phenotype or isolated ectopia lentis.
  • Recent studies have suggested that abnormalities in the transforming growth factor-beta (TGF β )-signaling pathway may represent a final common pathway for the development of the Marfan phenotype.[1] The gene defect ultimately leads to decreased and disordered incorporation of fibrillin into the connective tissue matrix.
  • The identification of mutations in transforming growth factor-beta receptor 2 (TGFβR2) in patients with Marfan syndrome type II (MFS2 mapped at 3p24.2-p25) provided direct evidence of abnormal TGFβ signaling in the pathogenesis of Marfan syndrome.
  • Abnormalities in TGFβR 2 and TGFβR1 were also reported to cause a new dominant syndrome similar to Marfan syndrome; it was associated with aortic aneurysm and congenital anomalies, including Loeys-Dietz aortic aneurysm syndrome (Online Mendelian Inheritance in Man [OMIM] 609192).[1] These results define a new group of Marfan syndrome–related connective-tissue disorders, namely, TGF β signalopathies.
  • A second fibrillin gene, the FBN2 gene, is responsible for the congenital contractural arachnodactyly, known as Beals syndrome



United States

Marfan syndrome affects about 1 in 10,000 individuals[3] and perhaps as many as 1 in 3000-5000.
  • Estimates suggest that at least 200,000 people in the United States have Marfan syndrome or a related connective-tissue disorder.
  • This makes Marfan syndrome one of the most common single-gene malformation syndromes.


No geographic predilection is known.


Cardiovascular disease (aortic dilatation and dissection) is the major cause of morbidity and mortality.
Progression from mitral valve prolapse to mitral regurgitation, often in conjunction with tricuspid prolapse and regurgitation, is the most common cause of infant morbidity. If untreated, Marfan syndrome is highly lethal; the average age at death is 30-40 years.
Death after infancy usually involves ascending aortic dissection and chronic aortic regurgitation. Dissection generally occurs at the aortic root and is uncommon in childhood and adolescence.


Marfan syndrome is panethnic.


No sex predilection is known.


Marfan syndrome may be diagnosed prenatally, at birth, or well into adulthood. Neonatal presentation is associated with a more severe course than that associated with other presentations.
Most clinical features are specific to age, and some features may not manifest until relatively late in life. This feature may make diagnosis in a child difficult.


Marfan syndrome is currently diagnosed using criteria based on an evaluation of the family history, molecular data, and 6 organ systems. The diagnosis cannot be based on molecular analysis alone because molecular diagnosis is not generally available, mutation detection is imperfect, and not all FBN1 mutations are associated with Marfan syndrome. With the previous Berlin criteria, Marfan syndrome was diagnosed on the basis of involvement of the skeletal system and 2 other systems, with the requirement of at least one major manifestation (ie, ectopia lentis, aortic dilatation or dissection, or dural ectasia).
In 1995, a group of the world's leading clinicians and investigators in Marfan syndrome proposed revised diagnostic criteria. Known as the Ghent criteria, they identify major and minor diagnostic findings, which are largely based on clinical observation of various organ systems and on the family history. A major criterion is defined as one that carries high diagnostic precision because it is relatively infrequent in other conditions and in the general population. The Ghent criteria were intended to serve as an international standard for clinical and molecular studies and for investigations of genetic heterogeneity and genotype-phenotype correlations. The clinical diagnosis in adults should be made using the Ghent criteria, which are unreliable in children.
Revision of these nosologies was necessary because the Berlin criteria did not provide for molecular data and because they may have resulted in false diagnoses of unaffected relatives. However, the new criteria may be too stringent and may exclude Marfan syndrome in many affected patients. For example, 19% of patients whose disease was diagnosed under the Berlin criteria did not meet the Ghent criteria. When patients were screened for dural ectasia, 23% of those whose diagnosis of Marfan syndrome was established by using the Berlin criteria were considered to not have Marfan syndrome when the Ghent criteria were applied.[4]
Family history and results of molecular studies are some of the major criteria, a fact that emphasizes the need to obtain a complete family history and pedigree. The major criteria include the following:
  • A first-degree relative (parent, child, or sibling) who independently meets the diagnostic criteria
  • Presence of an FBN1 mutation known to cause Marfan syndrome
  • Inheritance of an FBN1 haplotype known to be associated with unequivocally diagnosed Marfan syndrome in the family
  • In family members, major involvement in one organ system and involvement in a second organ system
If the family and genetic histories are not contributory, major criteria in 2 different organ systems and involvement of a third organ system are required to make the diagnosis (organ system criteria described in Physical).
Clinical presentations are as follows:
  • Delayed achievement of gross and fine motor milestones secondary to ligamentous laxity of the hips, knees, ankles, arches, wrists, and fingers
  • A decrescendo diastolic murmur from aortic regurgitation
  • An ejection click at the apex followed by a holosystolic high-pitched murmur from mitral prolapse and regurgitation
  • Dysrhythmia (a primary feature)
  • Abrupt onset of thoracic pain, which occurs in more than 90% of patients with aortic dissection (Other signs include syncope, shock, pallor, pulselessness, and paresthesia or paralysis in the extremities. Onset of hypotension may indicate aortic rupture.)
  • Low back pain near the tailbone, burning sensation and numbness or weakness in the legs in serious dural ectasia (Dural ectasia may cause headaches and even neurologic deficits.) Dural ectasia is shown in the image below.Dural ectasia in the lumbosacral region. Dural ectasia in the lumbosacral region.
  • Joint pain in adult patients
  • Dyspnea, severe palpitations, and substernal pain in severe pectus excavatum
  • Breathlessness, often with chest pain, in spontaneous pneumothorax
  • Visual problems, possibly loss of vision, from lens dislocation or retinal detachment (The most common refractory errors are myopia and amblyopia.)


At this time, the diagnosis of Marfan syndrome remains mainly clinical.

Skeletal findings

Affected patients are usually taller and thinner than their family members. Their limbs are disproportionately long compared with the trunk (dolichostenomelia). Arachnodactyly is a common feature. See the images below for examples.
Adult with Marfan syndrome. Note tall and thin buiAdult with Marfan syndrome. Note tall and thin build, disproportionately long arms and legs, and kyphoscoliosis.Arachnodactyly. Arachnodactyly.
Although the vast majority of patients are diagnosed before the age of 10 years, few present with the 4 skeletal criteria, which are developed later in life.[5]
Major criteria include the following:
  • Pectus excavatum that requires surgery or pectus carinatum (See the image below.)Pectus excavatum of moderate severity. Pectus excavatum of moderate severity.
  • Reduced upper-to-lower body segment ratio (0.85 vs 0.93) or arm span–to-height ratio greater than 1.05: Arms and legs may be unusually long in proportion to the torso.
  • Positive wrist (Walker) and thumb (Steinberg) signs: Two simple maneuvers may help demonstrate arachnodactyly. First, the thumb sign is positive if the thumb, when completely opposed within the clenched hand, projects beyond the ulnar border. Second, the wrist sign is positive if the distal phalanges of the first and fifth digits of one hand overlap when wrapped around the opposite wrist (see the images below).Positive wrist (Walker) sign. Positive wrist (Walker) sign.Positive thumb (Steinberg) sign. Positive thumb (Steinberg) sign.
  • Scoliosis greater than 20°: More than 60% of patients have scoliosis. Progression is most likely with curvature of more than 20° in growing patients.
  • Reduced extension of the elbows (< 170°)
  • Medial displacement of the medial malleolus, resulting in pes planus: Pes planus is best diagnosed by examining the foot from behind. A valgus deviation of the hindfoot indicates pes planus.
  • Protrusio acetabuli of any degree: This is a deformity of the hip joint in which the medial wall of the acetabulum invades the pelvic cavity with associated medial displacement of the femoral head and is ascertained using radiography. Protrusio acetabuli affects 31-100% of patients to varying degrees.[6] Clinical manifestations include hip joint stiffness and progressive limitation in activity related to joint pain, a waddling gait, limited range of motion, flexion contracture, a pelvic tilt with a resulting hyperlordosis of the lumbar spine, and eventual osteoarthritic changes.[7] Local progressive protrusion can lead to early hip pain and osteoarthritis.
Minor criteria are as follows:
  • Pectus excavatum of moderate severity
  • Scoliosis less than 20°
  • Thoracic lordosis
  • Joint hypermobility (See the image below.)Hypermobility of finger joints. Hypermobility of finger joints.
  • Highly arched palate
  • Dental crowding
  • Typical facies (dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, down-slanting palpebral fissures)
For the skeletal system to be involved, at least 2 major criteria or 1 major criterion plus 2 minor criteria must be present.

Ocular findings

The major criterion is ectopia lentis. About 50% of patients have lens dislocation. The dislocation is usually superior and temporal. This may present at birth or develop during childhood or adolescence.
Minor criteria for the ocular system include the following:
  • Flat cornea (measured by keratometry)
  • Increased axial length of the globe (measured by ultrasound)
  • Cataract (nuclear sclerotic) in patients younger than 50 years
  • Hypoplastic iris or hypoplastic ciliary muscle that causes decreased miosis
  • Nearsightedness regardless of whether the lens is in place: The most common refraction error is myopia due to elongated globe and amblyopia.
  • Glaucoma (patients < 50 y)
  • Retinal detachment
At least 2 minor criteria must be present.

Cardiovascular findings

Cardiovascular involvement is the most serious problem associated with Marfan syndrome.
Major criteria include the following:
  • Aortic root dilatation involving the sinuses of Valsalva: The prevalence of aortic dilatation in Marfan syndrome is 70-80%. It manifests at an early age and tends to be more common in men than women. A diastolic murmur over the aortic valve may be present
  • Aortic dissections involving the ascending aorta
Minor criteria are listed as follows:
  • Mitral valve prolapse (55-69%): Midsystolic clicks may be followed by a high-pitched late-systolic murmur and, in severe cases, a holosystolic murmur.
  • Dilatation of proximal main pulmonary artery in the absence of peripheral pulmonic stenosis or other cause.
  • Calcification of mitral annulus (patients < 40 y)
  • Dilatation of abdominal or descending thoracic aorta (patients < 50 y)
For the cardiovascular system to be involved, a minor criterion must be present.

Pulmonary findings

For the pulmonary system, only minor criteria are noted. For the pulmonary system to be involved, a minor criterion must be present.
Minor criteria include the following:

Skin and integumentary findings

For skin and integument, only minor criteria are noted. For the skin and integument system to be involved, a minor criterion must be present.
Minor criteria include the following:
  • Striae atrophicae in the absence of marked weight changes, pregnancy, or repetitive stress: Stretch marks are usually found on the shoulder, mid back, and thighs. See the image below.Stretch marks (striae atrophicae) in the lower bacStretch marks (striae atrophicae) in the lower back.
  • Recurrent or incisional hernia

Dural findings

For the dura, only one major criterion is defined: Dural ectasia must be present and confirmed using CT or MRI.
Dural ectasia is an enlargement of the dural sac and the spinal canal and sometimes with enlarged nerve sleeves.[8] Dural ectasia is a common feature of Marfan syndrome. The prevalence of dural ectasia among patients with Marfan syndrome is 65-92%
Dural ectasia is defined as a ballooning or widening of the dural sac, often associated with herniation of the nerve root sleeves out of the associated foramina.
Dural ectasia most frequently occurs in the lumbosacral spine
The most common clinical symptoms are low back pain, headache, weakness, and loss of sensation above and below the affected limb, occasional rectal pain and pain in the genital area.[8] The symptoms are aggravated mainly in the supine position and are relieved by lying on the back.[9]
Severity appears to increase with age, supporting the hypothesis that a weakened dural sac expands from the cumulative effect of increased intrathecal pressure at the base of the spine from upright posture. Less than 20% of patients have serious dural ectasia.
Dural ectasia can also be associated with conditions such as Ehlers-Danlos syndromeneurofibromatosis type 1, ankylosing spondylitis, trauma, scoliosis, or tumors.
Key issues in the assessment of Marfan syndrome [10]
Diagnosis or exclusion of Marfan syndrome in an individual should be based on the Ghent diagnostic nosology.
The initial assessment should include a personal history, detailed family history and clinical examination including ophthalmology examination and transthoracic echocardiogram.
The aortic diameter at the sinus of Valsalva should be related to normal values based on age and body surface area.
The development of scoliosis and protrusio acetabulae is age dependent, commonly occurring following periods of rapid growth. Radiography is indicated for these features, depending on age, if a positive finding confirms the diagnosis of Marfan syndrome.
A pelvic MRI scan to detect dural ectasia is indicated if a positive finding would make the diagnosis of Marfan syndrome.
The Ghent nosology cannot exclude Marfan syndrome in children, because of the age-dependent penetrance of many features.
Younger patients with a positive family history but unsuccessful DNA testing and insufficient clinical features to fulfill the diagnostic criteria, and younger patients with no family history who miss fulfilling the diagnostic criteria by one system only should be offered further clinical evaluations at least until age 18 years, or until a diagnosis can be made.
Family history of aortic aneurysm may represent a disorder such as familial thoracic aortic aneurysm such that the use of the Ghent nosology to assess risk in relatives is inappropriate.
Revised Ghent criteria for the diagnosis of Marfan syndrome and related conditions [11, 12]
Abbreviations are as follows:
  • Ao - Aortic diameter at the sinuses of Valsalva above indicated Z-score or aortic root dissection
  • EL - Ectopia lentis
  • ELS - Ectopia lentis syndrome
  • FBN1 - Fibrillin-1 mutation
  • FBN1 not known with Ao -FBN1 mutation that has not previously been associated aortic root aneurysm/dissection
  • FBN1 with known Ao -FBN1 mutation that has been identified in an individual with aortic aneurysm
  • MASS - Myopia, mitral valve prolapse, borderline (Z< 2) aortic root dilatation, striae, skeletal findings phenotype
  • MFS - Marfan syndrome
  • MVPS - Mitral valve prolapse syndrome
  • Syst - Systemic score
  • Z - Z-score
In the absence of a family history, the following is noted:
  • (1) Ao (Z ≥ 2) AND EL = MFS
  • (2) Ao (Z ≥ 2) AND FBN1 = MFS
  • (3) Ao (Z ≥ 2) AND Syst (≥7 points) = MFSa
  • (4) EL AND FBN1 with known Ao = MFS
In the presence of a family history (EL with or without Syst AND with an FBN1 not known with Ao or no FBN1 = ELS Ao (Z < 2) AND Syst (≥5) with at least one skeletal feature without EL = MASS MVP AND Ao (Z < 2) AND Syst (> 5) without EL = MVPS):
  • (5) EL AND FH of MFS (as defined above) = MFS
  • (6) Syst (≥7 points) AND FH of MFS (as defined above) = MFSa
  • (7) Ao (Z ≥ 2 above 20 years old, ≥3 below 20 years) + FH of MFS (as defined above) = MFS
Systemic score (maximum total = 20 points; score ≥7 indicates systemic involvement)
  • Wrist AND thumb sign – 3 (Wrist OR thumb sign – 1)
  • Pectus carinatum deformity – 2 (pectus excavatum or chest asymmetry – 1)
  • Hindfoot deformity – 2 (plain pes planus – 1)
  • Pneumothorax – 2
  • Dural ectasia – 2
  • Protrusio acetabuli – 2
  • Reduced US/LS AND increased arm/height AND no severe scoliosis – 1
  • Scoliosis or thoracolumbar kyphosis – 1
  • Reduced elbow extension – 1
  • Facial features (3/5) – 1 (dolichocephaly, enophtalmos, downslanting palpebral fissures, malar hyoplasia, retrognathia)
  • Skin striae – 1
  • Myopia > 3 diopters – 1
  • Mitral valve prolapse (all types) – 1


Marfan syndrome is caused by mutations in FBN1 gene located on chromosome 15q21.1 and, occasionally, by mutation in TGFβR1 or TGFβR2 gene located on chromosome 9 and on chromosome 3p24.2-p25, respectively.
More than 500 fibrillin gene mutations have been identified. Almost all of these mutations are unique to an affected individual or family. Different fibrillin mutations are responsible for genetic heterogeneity. Phenotypic variability in the presence of the same fibrillin mutation suggests the importance of other, yet-to-be-identified factors that affect the phenotype.
Despite intensive international efforts, genotype-phenotype correlations have not been made, with the exception of an apparent clustering of neonatal mutations between exons 24 and 32 of FBN1. The neonatal Marfan syndrome represents the most severe end of the clinical spectrum of the fibrillinopathies and is associated with mutations in exons 24–32.[13] Affected individuals are generally diagnosed at birth or shortly thereafter. Unique features include joint contractures, "crumpled" external ears, and loose skin. Congestive heart failure associated with mitral and tricuspid regurgitation is the main cause of death, whereas aortic dissection is uncommon. Survival beyond 24 months is rare.[14]
  • Genotype-phenotype correlations in Marfan syndrome have been complicated by the large number of unique mutations reported, as well as by clinical heterogeneity among individuals with the same mutation.
  • Mutations in the FBN1 gene have also been found in patients with other fibrillinopathies.
  • Identifying a given mutation is currently of limited value in establishing a phenotype or providing a prognosis.
Marfan syndrome is known as an autosomal dominant connective tissue disorder. However, recently a family was reported to have homozygosity for a FBN1missense mutation and molecular evidence for recessive Marfan syndrome.[15]This obviously has implications for genetic counseling and for molecular diagnosis.