The congenital heart defect called tetrology of Fallot is a complex combination of four birth defects in the heart. Some believe there are only three heart defects. The spelling of the word tetrology can be spelled either tetralogy or tetrology. The first part of the word tetralogy is tetra that is a Greek word that means four.

Tetralogy of Fallot is four defects within the heart. The four heart defects are;
1. pulmonary stenosis ( a narrowing of pulmonary valve and the outflow tract creating a blockage or obstruction of the blood flow from the right ventricle to the pulmonary artery),
2. a large ventricular septal defect ( a hole in the wall of the septum of the ventricle)
3. an overriding aorta (the aortic valve is enlarged and it appears to arise from both the right and left ventricles instead of only the left ventricle as usually occurring in the normal hearts) and
4. a right ventricular hypertrophy ( an enlargement of the right ventricle and the thickening of the muscular walls of the right ventricle, which occurs because the right ventricle is pumping blood at a high pressure).
Some children who have ToF also have additional VSD, atrial septal defects or abnormalities in the branches of the coronary arteries.

In the heart defect known as pulmonary stenosis there is a blockage or an obstruction of blood flow to the lungs resulting from a narrowing of the outflow area connecting the right ventricle to the pulmonary aorta.

The word Fallot is actually the name of the doctor who described the four heart defects. The doctor a French physician and cardiologist name is Ettienne Louis Arthur Fallot was born in 1850 and died in 1911.

Tetrology of Fallot is also known by the three letters (ToF) that is an acronym and is also known as Fallot's Syndrome. Fallot was not the first to describe the four multiple congenital heart defects.

The first written description of ToF was by Niels Stensen [Stenonius, Nicolaus] 1638-1686. In a paper called Embryo monstro affinis Parisiis dissectus. Acta med. Philos. Hafniensa, 1671-72,1, 202-03.

Niels was a Danish Physician, natural scientist, bishop and later Saint Nicolaus Stenonius. Fallots description was from 1888 based on the symptoms of two persons he observed with the bluish color to the skin and with a survey of 50 other patients previously noted.

There are at least forty descriptions of this condition before Fallots description.

Another description is by Sandifort, Eduard born 1742 died in 1814. Sandifort wrote in a paper, Observationes anatomicae-pathologicae. Vol.1 Lugduni Batavorum,P.v.d.Eyk&D. Vygh, 1791. First English translation.

One Thomas Bevill Peacock born 1812 and died in 1882 wrote in a paper called; On malformations, etc, of the human heart. London, J. Churchill, 1858. This includes an account of the "tetralogy of Fallot". Peacock's book was "the first comprehensive study covering the whole field" (Maude Abbott)

Fallot, Etienne Louis Arthur, French Physician; Born September 29, 1850 in Seite that is outside of Marseille, died April 30, 1911.
He wrote a paper: Contribution a l'anatomie pathologique de la maladie bleu (cyanose cardique). Marseille med, 1888, 25,77-93. The "tetralogy of Fallot." He gave an important, but not the first, account of this condition.

What might be of interest to many is to understand how something takes on the name of a person such as adding Fallots name to the 4 heart defects called tetrologyof Fallot.

An EPONYM is a word derived or associated from some-ones name. If you have ever eaten a sandwich, this word is named after the Earl of Sandwich. How this came about was during a sporting event he was being called away from it. He didn't want to leave so he told his servant to bring him a serving of meat between two slices of bread so he wouldn't have to leave. That's how we got the word sandwich.

A similar story is how we get the name side-burns that is facial hair. The name came from a man called Burnside who had long hair on the side of his face.

Associated eponyms:
1. Fallot's Pentalogy- Five defects. This is the four known defects with the addition of either a patent foramen ovale or an atrial septal defect. Now we have five defects. Penta means 5.
2. Fallot's Tetralogy- balanced shunt syndrome. A variation of Fallot's tetralogy is seen with the characteristics of occasional spells of cyanosis (skin bluish in color), hyperpnoema and syncope.
3. Fallot's trilogy- a group of three defects that include pulmonary stenosis, intraatrial septal defect and a closed interventricular septum.
4. Fallot's Tetralogy- The four congenital defects that are stenosis of the pulmonary artery, defects in the inter-ventricular septum, dextroposition of the aorta, and hypertrophy of the right ventricle.

Tetrology of Fallot makes up about 10 percent of all congenital heart defects affecting boys more than girls. ToF is usually detected some period of time after birth usually within the first year.

Diagnosis is made by the bluish color to the skin, nails and lips, problems eating, failure to gain weight, slow growth and physical development, difficulty in breathing due to lack of air or painful breathing (dyspnea) upon exerting oneself, clubbing of fingers and toes and polycythaemia (many red blood cells).

There may be permanent bluish color to the skin. This defect is also found in animals such as cattle and dogs and recently found in a tiger. This bluish color to body happens because the lungs can't get enough oxygen in the blood. Remember oxygen is carried by the blood and if there is not enough blood filled with oxygen we now have the other kind of blood we call blue blood which has less oxygen in it or it has given off its oxygen on the way back to the lungs to refill with oxygen.

The history of Tetralogy of Fallot is another giant step in the history of heart surgery. Who was the first to operate on children born with this heart defect, who thought about the way it could be done, who made it possible to figure out a way to change the way blood flows in the heart and vessels is of great wonder.

So many people played a major role in the evolution of surgery to correct this heart defect that it is really quite remarkable. We will talk about the closed heart operation to correct Tof and then the openheart operation where they actually open the heart to close the defects in babies born with Tetralogy of Fallot.

The first person we would have to talk about would have to be the patient who had to bare the problem of having the heart defects. The color of the skin, lips, fingernails, how difficult it was for a child to eat, how tired the child gets and the most common sign that a child has TETRALOGY of FALLOT is the position the child assumes to be able to breathe. Squatting down with the head between the legs after exertion.

Remember that the world famous and first Lady of pathology of the heart was the Canadian Dr. Maude Abbott (1869-1940). She and she alone wrote and studied more about congenital heart defects than anyone in the world. By her work in studying the hearts of those who died gave her more of an understanding how the heart worked than anyone of her time. Indirectly she played a major role in developing procedures to correct heart defects. All surgeons referred to her book on congenital heart disease.

The next person who would play a major role in the correction of TETRALOGY of FALLOT is Dr. Helen Taussig (1898-1986) from John's Hopkins Hospital in Baltimore Maryland. Helen was a pediatric cardiologist and for years had seen children in her practice of pediatric cardiology medicine with these 4 heart defects known as Tetrology of Fallot and had no way to help them.

An interesting side note about Helen was that she was hard of hearing and seldom used a stethescope to listen to the heart and lungs. She made her diagnosis by the clinical symptoms a patient came in with and after a visual inspection and physical hands on examination.

Helen often referred and talked to Maude Abbott about her work with the pathology of the heart and it was Dr. Taussig who came up with the idea how to correct this heart defect. Helen first approached Dr. Robert Gross from Boston who did the operation on babies and kids who had a patent ductus arterisosis. From what I have read it seems he had no interest in this.

The basic idea for the operation was to be able to get proper oxygenation of the blood from the lungs. The blue baby operation that Taussig wanted to do was to join part of the aorta to the pulmonary artery where the blood would pick up oxygen in the lungs. This is what Helen spoke of with Maude Abbott.

The next person who Helen spoke with about trying to help all the kids she had seen with ToF was Dr. Alfred Blalock (1899-1964) and his surgical assistant in his lab by the name of Vivien T. Thomas (1910-1985). Blalock hired Vivien when they both previously worked in Tennessee at the Vanderbuilt University Hospital. Blalock asked Vivien to join him at his new position at Hopkins where he would continue as his surgical assistant. Vivien worked out many operations on animals in the hospital lab and then took this into the operating room with Blalock.

There are different stories as to how the origins of the operation came about and I will share what Dr. Taussig said. In 1943 Dr. Taussig talked of a conversation between Dr. Blalock and Dr. Edwards A. Park who hired Dr. Taussig.

The conversation had to do with the problem associated with the idea of cross-clamping the descending aorta to repair the heart defect that Dr. Crafoord from Sweden and Dr.Gross from America had successfully operated on called Coarctation of the aorta in 1944 and 1945.

Dr. Park asked Blalock, could you not use the carotid artery as a bypass? It is a long, straight artery and there are four blood vessels to the brain. Wouldn't it be possible to turn the carotid artery down and reconnect it to the aorta below the coarctation.

Then Dr. Taussig spoke up and said, If you could put the carotid artery into the descending aorta, couldn't you put the subclavian artery into the pulmonary artery (the artery to the lungs to pick up oxygen). This is called shunting of blood from one area of the heart to another by disconnecting a blood vessel from where it normally would be and redirecting the vessel to go somewhere else.

This shunting of blood from the subclavian artery to the artery to the lung called the pulmonary artery would pick up oxygen from the lungs and take this oxygenated blood to the rest of the body.

The first operation for blue babies called Tetralogy of Fallot was done on November 29, 1944 at Johns Hopkins Hospital in Baltimore, Maryland. The first patient was a girl named Eileen Saxon.

Eileen Saxon

This is how Harry Minetree described the operation with all those who participated.

"On November 29, 1944, students and professors crowded into the double-deck observation gallery above the eighth-floor operating room in the Halsted Clinic. Because there was a danger of losing the child Eileen before the operation began, Dr. Merel Harmel decided not to use a strong anaesthetic and put her slowly to sleep with a diluted mixture of ether and oxygen.

Dr. Blalock operating on TOF patient at Hopkins.

Dr. William Longmire, the Chief Resident, was first assistant. Charlotte Mitchell was the scrub nurse. After inserting an arterial needle for blood-oxygen tests, Vivien Thomas, who in the dog lab had proved himself a master at vascular suturing, stood by in the event that his advice might be needed.

Dr. Longmire

Dr. Denton Cooley administered fluids. The tiny, pliable ribs were retracted and the pleural cavity, containing the child's atrophied lungs and small, twisted heart, was opened…the heart and lungs seemed infinitely more complex in miniature.

With the assistance of Thomas, Dr. Blalock found the subclavian artery, clamped it at its origin and began dissecting away the tissue that clung to it. The instruments were too large and awkward… Using bulldog clamps fitted with rubber tubing so as not to crush the vessels, Blalock, with Thomas' help, carefully prepared a site for attaching the subclavian to the pulmonary artery. A small transverse incision was made between two clamps on the pulmonary artery then, using china beaded silk on fine needles, Dr. Blalock completed the juncture that rerouted the baby's blood. She immediately went from waxen blue to pink. Dr. Helen Taussig had watched the operation from the head of the table…."

This was the beginning of what is called palliative correction of correcting the heart defect Tetrology of Fallot. It was not a cure but a way to give patients a better life until another better way to correct these 4 heart defects could be accomplished. The use of the subclavian artery and the pulmonary artery was the first operation.

In their first article that was published Dr. Blalock and Taussig said that the SHUNT operation might be able to be used to treat conditions such as tetrology of fallot, pulmonary atresia, truncus arteriosus, and single ventricle with a rudimentary outflow chamber and a diminutive pulmonary artery. They also stated emphasizing that it was applicable only with anomalies associated with reduced pulmonary (lung) blood flow.

The first three children to be operated on at Johns Hopkins for Tetrology of Fallot each had a different anatomical shunt operation and each showed striking postoperative improvement. The first child had a normal arch, a left subclavian end-to-side pulmonary artery anastamosis.

The second child had a right arch and underwent an innominate end-to-side left pulmonary artery shunt. The third child had an arch that was on the left and had an innominate end-to-side right pulmonary artery anastamosis. The doctors talked about every possible and conceiveable way of constructing a systemic-pulmonary union with the exception of using a graft. The methods included the side-to-side aortic pulmonary anastamosis used by Dr. Willis John Potts (1895-1968) later on.

Let it be understood that the operation that Dr. Blalock, Dr. Taussig, and Dr. Vivien Thomas gave a new outlook on life to patients. It gave a joyous outlook and relief to the parents of these children who found themselves totally helpless caring for their children. This surgical procedure of rerouting blood by disconnecting one blood vessel and joining it to another was a blessing to all involved.

Dr. Blalock, Vivien Thomas and Dr. Taussig made medical history with this medical breakthrough. Surgeons from around the world came to learn how to do the operation called the Blalock-Taussig Shunt. The next two patients Blalock, Thomas and Taussig did was different from the first

Both Taussig and Blalock traveled the world teaching their operation. On one occasion while speaking at a conference in England they were showing slides of a patient who they had done the Blalock-Taussig Shunt operation on and a nurse walked the little patient in to show the doctors. The room was silent and then a roaring ovation came from the doctors in the auditorium.

Little Eileen Saxon the first patient to have the Blalock- Taussig Shunt Operation for Tetrology of Fallot survived only a year. Many children came from all over America and the world to have the operation done at Johns Hopkins Hospital. Many doctors learned the operation at Hopkins and took this knowledge to the hospital they were working at and started to do operations on their patients who had Tetrology of Fallot.

Another major surgical breakthrough came about with the actual opening of the heart to repair the 4 heart defects seen in Tetrology of Fallot. Remember the operation that Blalock, Thomas, and Taussig developed did not involve opening the heart to correct the defects. They did open the skin and bones in the chest, but not the heart. Their method was to make life bearable by bringing more oxygen to the body by rerouting blood vessels. Keep in mind that they had very little equipment back then and they had nowhere near the diagnostic equipment that we have today to make a diagnosis or help in the operation.

The next major step in treating Blue Babies or people with Tetrology of Fallot took place almost 10 years later. We will go back to the University of Minnesota Hospital and the surgeon who had developed an open-heart surgical procedure for a heart condition known as Ventricular Septal Defect.

Remember baby Gregory Glidden was operated on for a VSD and survived 11 days and didn't survive due to pneumonia. There were 2 other children in the hospital at the same time as baby Gregory.

A boy named Bradly and a girl named Pamela who both had ventricular septal defects. Both were operated on and Bradly became the first long term survivor of the heart defect called Ventricular septal defect and Pamela was the first girl.

Both are alive and doing fairly well as of this writing as I have spoken to them both and will share much more in the section on the heart defect called Ventricular Septal Defects.

There was also another boy in the University Hospital at the same time as Bradly and Pamela. This boy Mark had a different heart defect called Tetrology of Fallot. Up to this point in time no one had literally cut open the heart to try and correct the four birth defects within the heart that were seen in blue babies. That was to change and another first was to be accomplished.

On August 31, 1954 a child named Mark Shaw was brought to the operating room at the University of Minnessota Hospital. Ten years earlier on November 29, 1944 Blalock, Thomas and Taussig operated on Eileen Saxon to correct her 4 heart defects called Tetrology of Fallot. During this operation they did not cut open the heart. They rerouted blood vessels to bring more oxygen to the body.

This was going to change on August 31, 1954. The operation was going to be a first in two ways. The boy was going to have his heart opened up and the surgeons Drs. Walt Lillehi, Varco, Warden and Cohen were going to do a first by using the blood from another person called cross circulation to oxygenate the patient's blood.

The donor was not a member of the patient's family. The boy had a rare blood type AB- and no one in his family had this blood type. The Red Cross was contacted and a man age 29 and father of 3 volunteered to be the cross circulation donor. Marks parents were told about the operation that was done at Hopkins for Tetrology of Fallot invented by Blalock and Taussig, but Lillehi didn't think the boy could survive two surgeries the Blalock Taussig Shunt and then the openheart operation he planned to do.

The University of Minnesota surgeons hooked up their young patient Mike to the blood stream of his cross circulation donor Howard Holtz both under anesthesia next to each other in the operating room.

This was a first for the donor was not related to the patient. This was also a first multi-type operation of the heart series in which more than one defect was corrected. The donor Mr. Holtz body would serve as a living heart-lung machine for the young patient Mike. A small pump would help move the blood through the plastic tubing connecting Mr. Holtz femoral artery and saphenous vein in his legs to the artery and vein in Michael's neck and most importantly Mr. Holtz lungs would put oxygen into the blood being pumped through both Mike and Mr. Holtz. This would give the surgeons about 13 minutes to fix the defects within the heart.

Mikes heart was opened and it was bloodless. Inside the doctors closed up a hole between the right and left ventricle (known as an inter-ventricular defect) and removed tissue obstruction at the opening leading from the heart to the main artery that carries the blood to the lungs called the pulmonary artery.

Dr. Lillehi explained that this obstruction was keeping the blood from reaching the lungs in the proper quantities and was building up a pressure inside the heart. Total surgery time was 3 hours.

When Mr. And Mrs. Shaw say Michael they couldn't believe that his fingernails, lips and ears were no longer blue. They were reddish pink. Mrs. Shaw said before the operation Mike could not walk a half a block without having to rest.

This operation for Tetrology of Fallot was the first of its kind opening the heart for multiple heart defects and using a donor's blood as a heart lung machine for cross-circulation made medical history.

Both procedures the Blalock-Taussig Shunt and the openheart operation for Tetrololgy of Fallot by Lillehi and associates are still done today. Many of the surgical procedures have been improved but are still the basis for helping those affected by this group of defects.