Marfan syndrome

Marfan syndrome 

Marfan syndrome is a rare hereditary disorder of connective tissue which causes connective tissue to be weaker than normal.

For people with the Marfan syndrome, weak connective tissue causes problems of the skin, muscles, ligaments, heart, eyes, blood vessels, and bones.

It is estimated that about one in 10,000 people has the Marfan syndrome.

People affected by the Marfan syndrome are most often unusually tall and slender, with particularly long arms, legs, and fingers in comparison to the rest of their body.
Symptoms may not be apparent until adulthood.

The Marfan syndrome follows a pattern of inheritance called “autosomal dominant inheritance.” “Autosomal” means the inheritance is linked to any chromosome other than those which determine the sex of the child. “Dominant” means the effects of the Marfan gene dominate or override the effects of the normal gene in the pair. Therefore, if one parent contributes the Marfan gene and one parent contributes a normal gene, the child will inherit the Marfan disorder. There is a 50% chance during each pregnancy that the affected parent will pass on the Marfan gene and the child will get the Marfan syndrome. There is, of course, also a 50% chance that the affected parent will pass on his or her normal gene, in which case the child will not get the disorder.

Symptoms of the Marfan syndrome may include one or more of the following:

  • Excessive height
  • Particularly long arms and legs, with long slender fingers and toes.
  • Nearsightedness (myopia)
  • Indented or protruding breast bone
  • Curvature of the spine (scoliosis)
  • Mild to severe heart problems
  • Excessive Height

 Eye Problems

Nearsightedness (myopia) is a common condition. It can be corrected with prescription glasses or contact lenses. Many children experience problems with the lens of the eye (the focusing structure located just behind the pupil of the eye and held in place by ligaments). The lens can become torn from its supports and become “dislocated.” This can cause vision problems that are mild or severe enough to interfere with progress in school. In rare instances, the lens may need to be removed surgically.

On rare occasions, a child may suffer a detachment of the retina (the light sensitive tissue located at the back of the eye). This causes a sudden loss of vision and requires emergency surgery.

Problems with the Spine

A child with the Marfan syndrome tend to develop defective spine. Defect in the curvature of the spine (scoliosis) is common. Removable brace to stabilize the spine may be helpful. In some cases, if the curve worsens, in spite of bracing, surgery may be recommended.

Problems with The Breast Bone

Surgery is occasionally recommended to correct an indented chest if it presses severely on the heart or lungs.

Heart Problems

Heart problems can occur because the Marfan syndrome may cause leakage of the mitral or aortic heart valves. These valves control the flow of blood through the heart. Defects of the mitral valve may cause shortness of breath, an irregular pulse, and undue tiredness. Defects of the aortic valve can lead to serious heart failure. In addition, the main artery in the body, the aorta, can become dangerously weakened and rupture.

Marfan syndrome does not affect intelligence, but that visual problems often interfere with progress in school and that may affect the child’s social and psychological adjustment

This entry was posted in Diseases & Conditions, Genetics and tagged by Manbir & Gurpreet. Bookmark the permalink.

About Manbir & Gurpreet

Gurpreet Kaur’s journey in this world .... Gurpreet Kaur was a Musician. She was a singer and a composer of music. Her interest was composing and singing Gurbani Shabads in Indian Classical style. She sang Shabads in All the Raags mentioned in Sri Guru Granth Sahib Ji. She also taught Gurmat Sangeet at Gurmat Gian Missionary College, Jawadi, Ludhiana. Elder child to Pushpinder Kaur and Dr. Brig. Harminder Singh, was born in Amritsar on 13th Jan 1962. She attended various convent schools as a child because her father would get frequent Army postings as a dental surgeon. She graduated with Music Honors from Govt. College for Women, Chandigarh. Music was her hobby and she composed and sang Raag based Gurbani Shabads. Doing Kirtan was part of growing up nurtured by her parents. She learned music from her father Dr. Brigadier Harminder Singh who was a dental surgeon in Indian Army and a very good singer himself. Gurpreet’s Bhua (father’s sister), Ajit Kaur retied as a Head of Department of Music from Govt. College for Women Ludhiana, and was a renounced Punjabi singer of her time. Gurpreet Kaur also learned nuances of Indian Classical Music from Pandita Sharma. She was a mother of three children, and a grandmother. Her daughter Keerat Kaur is a Computer Engineer. Her two sons Gurkeerat Singh and Jaskeerat Singh are doctors in USA. Her daughter Keerat Kaur too was part of her group ~ Gurmat Gian Group. Gurpreet Kaur left this world at the age of 54yrs on 12th Sept 2016 in Baltimore USA. She had recorded around 25 cds of Gurbani Keertan. 'Raag Ratan' Album (6 CDs) is a Compilation of Shabads in All the 31 Sudh Raags of Sri Guru Granth Sahib Ji. 'Gauri Sagar' Album (3 CDs) is a Compilation of All forms of Raag Gauri in Sri Guru Granth Sahib Ji. 'Nanak Ki Malhaar' ~ ((3 CDs) is an album of Raag Malhar Shabads in various forms of Malhar. 'Gur Parsaad Basant Bana' ~ (3 CDs) is an album of Shabads in Raag Basant sung in various forms of Raag Basant. Har Ki Vadeyai Sarni Aayea Sewa Priya Kee Preet Piyaree Mohan Ghar Aavho Karo Jodariya Mo Kao Taar Le Raama Taar Le Tere Kavan Kavan Gun Keh Keh Gawan Mera Baid Guru Govinda Saajanrraa Mera Saajanrraa

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