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  • City Doctors Set Right Rare Genetic Defect

City Doctors Set Right Rare Genetic Defect

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Times of India
11 December 2010
By Pratibha Masand
Mumbai, India

City Doctors Set Right Rare Genetic Defect
When 30–year–old businessman Mahesh Nanda suffered a minor brain stroke that left him temporarily paralyzed, little did he realize that this was only the beginning of his health problems. Over the course of the month and a battery of tests later, doctors discovered that Nanda was suffering from not one but four medical conditions and a host of related complications.

Not only was his heart in the wrong place–it was situated in the middle of the body rather than the left–it had a 4.5 sq cm hole because of which he was suffering from abnormalities in cardiac drainage.

The culprit behind this almost surreal list of medical conditions was a rare genetic defect called Holt–Oram Syndrome.

Miracle Man
City Doctors Set Right Rare Genetic Defect
Businessman Mahesh Nanda, 30, is lucky to have survived five medical complications:

Holt–Oram Syndrome | Rare genetic disorder (only 350 cases worldwide) that affects the bones in the upper limbs, arms and hands. Nanda’s right thumb is missing and the hand shorter than the left Mesocardia | Nanda’s heart is situated in the middle of the body rather than the left Hole In The Heart | He had a gaping 4.5 cm hole at the back of the heart In Vein | Left vein leading to Nanda’s heart was draining separately into right chamber, causing problems in oxygenation of blood Minor Brain Stroke | Was temporarily paralyzed 5–hr surgery gave Nanda’s heart a new lease on life

Mumbai: Nanda is one of "the 350 people in the world afflicted with Holt–Oram Syndrome," said Dr Pawan Kumar who treated him. It’s nothing short of a miracle that the businessman is on the road to recovery today. "When Mahesh was wheeled out of the operation theatre after an open–heart surgery, which was performed ten days ago, he was breathing normally," said doctors.

Nanda was born with Holt–Oram Syndrome that affects the bones in the upper limbs and causes heart problems. His right hand is smaller than his left, and does not have a thumb. Doctors failed to recognize the genetic defect and blamed it on bone abnormalities.

City Doctors Set Right Rare Genetic Defect
For 30 years, Nanda carried on with his life–he started a business, got married, became a father–blissfully unaware of his medical problems. That is, until November 6. "I was at home eating breakfast when a spasm ran through my body. I lost control of my tongue and my whole face went rigid. It lasted only for a few minutes, but we rushed to a hospital," he says. CT scans and MRIs revealed Nanda’s heart was in the middle of his body and had a gaping hole. Nanda went to Lilavati Hospital, Bandra for a second opinion.

"Instead of dextrocardia (a mirror image of the heart on the right), we realized that it was mesocardia, where there is positional displacement of the heart in the right side. His heart hadn’t rotated completely, the apex was missing and the left vein was draining abnormally in the right chamber.

There was a huge 4.5 sq cm hole on the wall of his atria," said Kumar, the cardio–surgeon at Lilavati Hospital, who operated on Nanda. All these heart conditions and the fact that Nanda’s right hand (with a thumb missing) was a few centimetres shorter than the left one, helped doctors diagnose his real condition–Holt–Oram Syndrome.

In a surgery that went on for five hours, doctors were able to reroute his blood channels and repair the defect in the heart. "The contractions of his upper and lower chambers were not synchronized. We had to reroute all his blood vessels to the correct chambers. After this, we covered the hole with a Teflon patch. Now, his oxygenated blood does not mix with the impure one," said Pawan. Nanda is back in his house at Kandivli and is on the road to recovery.

City Doctors Set Right Rare Genetic Defect
"It appears to be the rarest of rare cases. If there was a 4.5 sq cm hole, the man is lucky to have survived so long," said Dr N O Bansal, head of cardiology at J J Hospital. Dr Suresh Joshi, consultant cardiac surgeon at Fortis Hospital, Mulund, is sceptical: "We have treated patients who were born with a hole in the heart, accompanied by minor bone defects.

It’s not uncommon for the bone defects to go unnoticed. Holt–Oram Syndrome is considered rare as not many patients are diagnosed correctly."

4 Times The Trouble
Nanda Lived For 30 Yrs Unaware Of His Condition Medical marvel? mahesh nanda was admitted to the hospital after he suffered a brain stroke. it was then that doctors discovered that he had not one, but four medical complications
Holt–Oram Syndrome
  • Also called heart–hand syndrome, it is an inherited genetic disorder that affects the bones in the upper limbs–arms and hands
  • About 75% of individuals with Holt–Oram Syndrome have heart problems. In most patients, the abnormality is either in the atria or in the ventricle, which varies in number, size and location
  • Affected individuals may also have additional bone abnormalities. The upper limb malformation can be sufficiently severe to produce phocomelia (a malformation in which the hands are attached close to the body). In Mahesh’s case, his right hand is smaller than his left. He does not have a thumb on the right hand
  • Holt–Oram Syndrome is also characterized by unsynchronized contractions of the upper and the lower chambers of the heart
  • It is responsible for all the other medical complications that Mahesh had to overcome
Mesocardia
  • It is a genetic condition that can be caused due to Holt–Oram Syndrome
  • Here, the heart is situated in the middle of the body rather than the left. It does not have an apex–pointed top–and is tilted
  • As the heart is displaced, it results in complications in the arterial network
Minor Brain Stroke
  • A brain stroke occurs when the arterial blood flow leading to or in the brain is blocked or when the arteries are ruptured. It can cause paralysis, either permanent or temporary
  • Blood carries oxygen and nutrients to the nerve cells in the brain, so when the blood flow stops, the cells begin to die
  • Symptoms include sudden weakness or numbness of the face, arm and leg on one side of the body; loss of speech, or trouble talking or understanding speech; dimness or loss of vision (usually in one eye) unexplained dizziness, unsteadiness or sudden falls
  • It was only after Nanda suffered a stroke did doctors discover his medical condition
Atrial Septal Defect (hole in the heart)
  • It is characterized by a hole in the wall (septum) that separates the two upper chambers (atria) of the heart. As a result, the blood is allowed to flow from one atrium to the other, usually from the left side to the right side
  • This causes extra blood flow in the right atrium, the right ventricle and the lungs
  • Complications include enlargement of the right atrium and the right ventricle, right heart overload, irregular heartbeats or rhythm stroke and/or hypertension
  • Abnormalities In Cardiac Drainage | As Mahesh had an atrial septal defect, the left vein leading to the heart was draining separately into right chamber, causing problems in the oxygenation of the blood

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