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TETRALOGY OF FALLOT: ASSOCIATION WITH OTHER
CONGENITAL HEART DISEASES AND CHROMOSOMAL
ABNORMALITIES
Хadjimukhamedova Z.B.
Alieva N.R.
National Children's Medical Center
https://doi.org/10.5281/zenodo.12526019
Resume.
By some literature in the Republic of Belarus the ratio of
congenital malformations of the heart to other congenital defects is 30%,
including a congenital defect such as Tetralogy of Fallot, that is about 7-10%.
The research describes beginning of congenital heart defect depending on
mother’s age, health condition and genetic diseases.
Keywords:
a Tetralogy of Fallot, a congenital heart malformation,
congenital malformations, chromosomal diseases
Relevance. The relevance of the topic is due to the fact that currently a large
number of children are born with various heart defects, including Fallot's
Notebook. In most cases, this defect undergoes successful surgical treatment,
which is performed in several stages. [1]
Purpose: To study the main causes of the formation of the Tetrad of Fallot.
Tasks: 1. To establish the connection of the Tetrad of Fallot with other
congenital malformations, chromosomal diseases. 2. To identify the dependence
of the formation of a defect on the state of health and age of the mother. 3.
Compare the data of the studied literature with the results of the conducted
research.
Material and methods. In the course of the work, the genetic maps of pregnant
women in Minsk for 2009-2011, examined on the basis of the RNPC, were
evaluated "Mother and child", diagnosed with Tetrad Fallot at various stages of
fetal development.
The results and their discussion. The study showed that the defect is more often
formed during pregnancy in patients over 35 years of age: in pregnant women
from 20 to 25 years-in 27% of cases, from 26 to 30 years-19%, from 31 to 35
years-12%, from 36 years and older 42%.
It was found that in the studied cases TF is most often represented by a
combination of the following heart defects: • ventricular septal defect-65% of all
studied cases • pulmonary artery stenosis-50% • aortic dextraposition-35% •
pulmonary trunk stenosis-15%, which corresponds to the literature data. [1] TF
was found to be associated with congenital malformations of the following
systems: • musculoskeletal system-27% of all studied cases (hypoplasia of the
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bones of the facial skull, polydactyly, clubfoot) • defects of the digestive tract-
12% • kidney defects - 1%. A study of the relationship of TF with chromosomal
abnormalities found an association of TF with Down syndrome in 39% of cases,
with Edwards syndrome in 6% of cases, and not a single case of an association of
a defect with Patau syndrome, although according to the literature the latter is
often found. [2] A study of the association of TF with other congenital heart
defects found that in 19% of cases there is a combination of TF with double
discharge of the main vessels. In an equal number of cases (an average of 6%),
TF was associated with the following heart defects: hypoplasia of the valvular
ring of the heart, absence of the Botall duct, violation of the continuous
connection of the interventricular septum with the ascending part of the aorta,
the rider's aorta, pulmonary artery atresia, persistent superior vena cava.
Most often, TF is definitively diagnosed at 19-22 weeks of gestation with routine
ultrasound. Thus, the dependence of the formation of the defect on the sex of the
fetus was revealed: in 57% of cases TF was observed in male fetuses, in 43% of
cases female.
In the studied cases, there is no relationship between the professions of
pregnant women and the development of malformation in fetuses. None of the
patients had malformations or any acquired heart diseases, and the only woman
examined had a viral disease in the first trimester ( fever up to 38 °C).
Conclusions: 1 The formation of the Fallot Tetrad is determined by the age of the
mother: it is most often formed during pregnancy in patients older than 35
years. 2 TF is represented by a combination of the following heart defects:
ventricular septal defect, pulmonary artery stenosis, aortic dextraposition,
pulmonary trunk stenosis. 3 This CHD is not isolated, it is associated with: -
other heart defects that are not included in the usual combination of heart
defects in TF; - various abnormalities of the development of the musculoskeletal
system, digestive tract and kidney defects; - chromosomal diseases: most often
with Down syndrome, less often with Edwards syndrome. 4 T F is more often
formed in male fetuses. 5 TF can be diagnosed at 19-22 weeks of gestation with
a second ultrasound. 6 Pregnancies ended in childbirth in 50% of cases. Thus,
the conducted research indicates that the pathogenesis of DF may be based on a
number of molecular genetic disorders of various origins, which cause multiple
abnormalities in the development of vital div systems.
References:
1.
https://www.heart.org/en/health-topics/congenital-heart-defects/about-
congenital-heart-defects/tetralogy-of-fallot
2.
https://www.ahajournals.org/doi/10.1161/CIRCRESAHA.118.314520
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3.
Bernstein D. Cyanotic congenital heart disease: evaluation of the critically
ill neonate with cyanosis and respiratory distress. In: Kliegman RM, St. Geme JW,
Blum NJ, Shah SS, Tasker RC, MBBS, Wilson KM, eds. Nelson Textbook of
Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 456.
4.
Valente AM, Dorfman AL, Babu-Narayan SV, Kreiger EV. Congenital heart
disease in the adolescent and adult. In: Libby P, Bonow RO, Mann DL, Tomaselli
GF, Bhatt DL, Solomon SD eds. Braunwald's Heart Disease: A Textbook of
Cardiovascular Medicine. 12th ed. Philadelphia, PA: Elsevier; 2022:chap 82.
5.
Well A, Fraser CD. Congenital heart disease. In: Townsend CM Jr,
Beauchamp RD, Evers BM, Mattox KL, eds. Sabiston Textbook of Surgery. 21st
ed. St Louis, MO: Elsevier; 2022:chap 59.
