Tetralogy of Fallot

Todayโ€™s path rounds are on ๐ญ๐ž๐ญ๐ซ๐š๐ฅ๐จ๐ ๐ฒ ๐จ๐Ÿ ๐…๐š๐ฅ๐ฅ๐จ๐ญ!

๐–๐ก๐š๐ญ ๐ข๐ฌ ๐ข๐ญ?
๐“๐ž๐ญ๐ซ๐š๐ฅ๐จ๐ ๐ฒ ๐จ๐Ÿ ๐…๐š๐ฅ๐ฅ๐จ๐ญ is a combination of four ๐œ๐จ๐ง๐ ๐ž๐ง๐ข๐ญ๐š๐ฅ (present at birth) defects in the heart, leading to abnormal blood flow. This condition is quite rare, but interesting!

๐–๐ก๐จ ๐ ๐ž๐ญ๐ฌ ๐ข๐ญ?
Any species can get this!

๐–๐ก๐š๐ญ ๐œ๐š๐ฎ๐ฌ๐ž๐ฌ ๐ข๐ญ?
Tetralogy means ๐Ÿ๐จ๐ฎ๐ซ ๐ฐ๐จ๐ซ๐ค๐ฌ, and is most often used in literature (i.e. it comes after a trilogy ๐Ÿ˜‰). In the case of tetralogy of Fallot, the โ€œfour worksโ€ are the four different congenital abnormalities present in the disease. These defects are:

1. ๐•๐ž๐ง๐ญ๐ซ๐ข๐œ๐ฎ๐ฅ๐š๐ซ ๐ฌ๐ž๐ฉ๐ญ๐š๐ฅ ๐๐ž๐Ÿ๐ž๐œ๐ญ, a hole in the separation between the two halves of the heart.
2. ๐๐ฎ๐ฅ๐ฆ๐จ๐ง๐ข๐œ ๐ฌ๐ญ๐ž๐ง๐จ๐ฌ๐ข๐ฌ, or narrowing of the valve that opens and closes to regulate blood entering the lungs for oxygenation.
3. ๐Ž๐ฏ๐ž๐ซ๐ซ๐ข๐๐ข๐ง๐  ๐š๐จ๐ซ๐ญ๐š, or an aorta that emerges from both sides of the heart, rather than just the left side.
4. ๐‘๐ข๐ ๐ก๐ญ ๐ฏ๐ž๐ง๐ญ๐ซ๐ข๐œ๐ฎ๐ฅ๐š๐ซ ๐ก๐ฒ๐ฉ๐ž๐ซ๐ญ๐ซ๐จ๐ฉ๐ก๐ฒ, or thickening of the muscle wall on the right side of the heart.

This combination of abnormalities is typically a ๐ฌ๐ฉ๐จ๐ซ๐š๐๐ข๐œ (random) occurrence, however it has been found to have a genetic link in Keeshond breed dogs.

๐–๐ก๐ฒ ๐ข๐ฌ ๐ญ๐ก๐ข๐ฌ ๐š ๐ฉ๐ซ๐จ๐›๐ฅ๐ž๐ฆ?
The main issue with tetralogy of Fallot is ๐ก๐ฒ๐ฉ๐จ๐ฑ๐ข๐š, or inadequate oxygenation of the blood. The main cause of this is inadequate delivery of blood to the lungs from the pulmonary stenosis, preventing proper oxygenation. This effect is enhanced by the ventricular septal defect, which allows deoxygenated blood to cross into the left side of the heart, mix with oxygenated blood, and be delivered to the body. This poorly oxygenated mixture is not very helpful for the tissues that desperately need oxygen!

In order to try and compensate for the lack of oxygen, the kidneys produce ๐ž๐ซ๐ฒ๐ญ๐ก๐ซ๐จ๐ฉ๐จ๐ข๐ž๐ญ๐ข๐ง, a hormone that stimulates red blood cell production. Ultimately, this results in ๐ฉ๐จ๐ฅ๐ฒ๐œ๐ฒ๐ญ๐ก๐ž๐ฆ๐ข๐š, or having too many red blood cells. The blood becomes viscous and thick, and cannot flow into smaller vessels. This can lead to seizures and ๐š๐ญ๐š๐ฑ๐ข๐š (irregular gait).

๐‡๐จ๐ฐ ๐ข๐ฌ ๐ข๐ญ ๐๐ข๐š๐ ๐ง๐จ๐ฌ๐ž๐?
Often, the main clinical sign a veterinarian will see on physical exam is ๐œ๐ฒ๐š๐ง๐จ๐ฌ๐ข๐ฌ, or blue tissue. This is because the animal doesnโ€™t have enough oxygen in their blood, which makes the blood appear red! These animals also have a history of collapse, seizures, and difficulty breathing. To confirm the diagnosis, ๐ž๐œ๐ก๐จ๐œ๐š๐ซ๐๐ข๐จ๐ ๐ซ๐š๐ฉ๐ก๐ฒ (ultrasound of the heart) can be used to identify the abnormalities directly.

๐‡๐จ๐ฐ ๐ข๐ฌ ๐ข๐ญ ๐ญ๐ซ๐ž๐š๐ญ๐ž๐?
Although there are surgical procedures that can help, this is very rarely done in our animal patients. Sometimes, these animals are managed with medication to improve their quality of life. However, this disease has an extremely poor prognosis, so euthanasia is often the outcome for these patients.

๐๐ก๐จ๐ญ๐จ๐ฌ
1-4) Examples of the lesions of tetralogy of Fallot!
5) A pig example of cyanosis.

๐’๐จ๐ฎ๐ซ๐œ๐ž๐ฌ
Maxie, G. Jubb, Kennedy and Palmerโ€™s Pathology of Domestic Animals, Volume 3. Sixth Edition.
Tou SP. Tetralogy of Fallot in Animals. Merck Veterinary Manual 2020.

Photos 1-5 ยฉ Noahโ€™s Arkive contributors Ramos-Vera, Harrington, Andreasen, Domingo licensed under CC BY-SA 4.0.

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