TETRALOGY OF FALLOT IN DOWN SYNDROME CHILDREN

ALI AUFAR HUTASUHUT 030.09.008

Faculty o M!"#c#$! TRISA%TI UNI&ERSITY 'a(a)ta *0+*

A,STRACT
Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy. This combination of lesions occurs in 3 of every 10,000 live births, and accounts for 7 10! of all congenital cardiac malformations. "atients nowadays usually present as neonates, with cyanosis of varying intensity based on the degree of obstruction to flow of blood to the lungs. The aetiology is multifactorial, but reported associations include untreated maternal diabetes, phenylketonuria, and intake of retinoic acid. #ssociated chromosomal anomalies can include trisomies $1, 1%, and 13, but recent e&perience points to the much more fre'uent association of microdeletions of chromosome $$. The risk of recurrence in families is 3!. (seful diagnostic tests are the chest radiograph, electrocardiogram, and echocardiogram. The echocardiogram establishes the definitive diagnosis, and usually provides sufficient information for planning of treatment, which is surgical. #ppro&imately half of patients are now diagnosed antenatally. )ifferential diagnosis includes primary pulmonary causes of cyanosis, along with other cyanotic heart lesions, such as critical pulmonary stenosis and transposed arterial trunks. *eonates who present with ductal+dependent flow to the lungs will receive prostaglandins to maintain ductal patency until surgical intervention is performed. ,nitial intervention may be palliative, such as surgical creation of a systemic+to+pulmonary arterial shunt, but the trend in centres of e&cellence is increasingly towards neonatal complete repair. -entres that undertake neonatal palliation will perform the complete repair at the age of .

to / months. Follow+up in patients born 30 years ago shows a rate of survival greater than %0!. -hronic issues that now face such adults include pulmonary regurgitation, recurrence of pulmonary stenosis, and ventricular arrhythmias. #s the strategies for surgical and medical management have progressed, the morbidity and mortality of those born with tetralogy of Fallot in the current era is e&pected to be significantly improved.

CHA-TER + INTRODUCTION

+.+ ,ac(.)ou$" 1a 2aladie 3leue, as described by 1ouis #rthur 4tienne Fallot in 1%%% ,is the clinical description of the physiology created by a combination of anatomic malformations now referred to as tetralogy of Fallot. The cardinal features consist of an interventricular communication, or ventricular septal defect, biventricular connection of the aortic root, which overrides the muscular ventricular septum, obstruction of the right ventricular outflow tract, and right ventricular hypertrophy . 4ach component can vary in its severity, with the variation directly affecting the manifestation and management of the disease.516

+.* -)o/l!0 The important problem that will be presented in this paper is how dangerous the tetralogy of fallot can lead many children with )own 7yndrome to the death. Tetralogy of Fallot 5T8F6 represents appro&imately 10! of cases of congenital heart disease 5-9)6, occurs in 3+/ infants for every 10,000 births, and is the most common cause of cyanotic -9). This disorder accounts for one third of all -9) in patients younger than 10 years.5$6 :ithout surgery, mortality rates gradually increase, ranging from 30! at age $ years to 00! by age / years.5$6 L#0#tat#o$ o -)o/l!0 2y paper is limited in terms of determines and the pathophysiological mechanisms that may e&plain this disease. 2any factors which can make tetralogy of fallot and the trisomy $1 or

down syndrome is the one of all etiologies. ,n this case differences in the pathophysiological point of view that will be raised and discussed by the author.

+.3 -u)1o2! The purpose of this paper is to find out more detail and discuss the determine factors of down syndrome and tetraloggy of fallot in a variety of viewpoints. +.3 M!t4o" o W)#t#$. The method is a review of the literature. #uthor seek references from medical ;ournals and the articles, which are related to this topic. #uthor of the reference tools of the internet. ,n the conte&t of the source, the author found the source of which was published less than ten years. Tools the author of several medical sites and some sites that have links with this topic. Then, the author mades review of references. ,n the end, the author makes conclusions from the opinions of this paper +.5 F)a0! o W)#t#$. This paper contents five chapters. -hapter 1 is about introduction. ,t is include background, problems, limitation of problems, purpose, method of writing and frame of writing. ,n chapter $, writer will talk about chromosome, down syndrome, and tetralogy of fallot which is include definition, etiology, epidemiology and the others. ,n addition, the authors will also e&plain about how to work up Tetralogy of fallot patients. -hapter 3 is the discussion of tetralogy of fallot. The conclusion will be discussed in chapter .

CHA-TER * LITERATURE RE&IEW

*.+ C4)o0o2o0! *.+.+ D! #$#t#o$

-hromosomes are long pieces of )*# found in the center 5nucleus6 of cells. )*# is the material that holds genes. ,t is considered the building block of the human body. -hromosomes come in pairs. *ormally, each cell in the human body has $3 pairs of chromosomes 5./ total chromosomes6. 9alf come from the mother< the other half come from the father. Two of the chromosomes 5the = and the > chromosome6 determine if you are born a boy or a girl 5your gender6. They are called se& chromosomes, the Females have $ = chromosomes and the 2ales have 1 = and 1 > chromosome. The mother always contributes an = chromosome to the child. The father may contribute an = or a >. Therefore, it is the chromosome from the father that determines the gender of the child. The remaining chromosomes are called autosomal chromosomes. They are known as chromosome pairs 1 through $$.

*.* Do6$ Sy$")o0! *.*.+ D! #$#t#o$

,n every cell in the human body there is a nucleus, where genetic material is stored in genes. ?enes carry the codes responsible for all of our inherited traits and are grouped along rod+like structures called chromosomes. Typically, the nucleus of each cell contains $3 pairs of chromosomes, half of which are inherited from each parent. )own syndrome occurs when an individual has a full or partial e&tra copy of chromosome $1.

This additional genetic material alters the course of development and causes the characteristics associated with )own syndrome. # few of the common physical traits of )own syndrome are low muscle tone, small stature, an upward slant to the eyes, and a single deep crease across the center of the palm + although each person with )own syndrome is a uni'ue individual and may possess these characteristics to different degrees, or not at all.

*.*.*

Et#olo.y

The aetiology is multifactorial, but reported associations include untreated maternal diabetes, phenylketonuria, and intake of retinoic acid. #ssociated chromosomal anomalies can include trisomies $1, 1%, and 13, but recent e&perience points to the much more fre'uent association of microdeletions of chromosome $$. The risk of recurrence in families is 3!.

*.3. t!t)alo.y o allot *.3.+."! #$#t#o$ is a congenital heart defect. This is a problem with the heart@s structure that@s present at birth. -ongenital heart defects change the normal flow of blood through the heart.

Tetralogy of Fallot is a rare, comple& heart defect. ,t occurs in about 0 out of every 10,000 babies. The defect affects boys and girls e'ually. To understand tetralogy of Fallot, it helps to know how a healthy heart works. The 9ealth Topics 9ow the 9eart :orks article describes the structure and function of a healthy heart. The article also has animations that show how your heart pumps blood and how your heart@s electrical system works.

*.3.*. Et#olo.y a$" -ato14y2#olo.y The cause5s6 of most congenital heart diseases 5-9)s6 are unknown, although genetic studies suggest a multifactorial etiology. # study from "ortugal reported that methylene tetrahydrofolate reductase 52T9FA6 gene polymorphism can be considered a susceptibility gene for tetralogy of Fallot.

"renatal factors associated with a higher incidence of tetralogy of Fallot 5T8F6 include maternal rubella 5or other viral illnesses6 during pregnancy, poor prenatal nutrition, maternal alcohol use, maternal age older than .0 years, maternal phenylketonuria 5"B(6 birth defects, and diabetes. -hildren with )own syndrome also have a higher incidence of tetralogy of Fallot, as do infants with fetal hydantoin syndrome or fetal carbamaCepine syndrome.

#s one of the conotruncal malformations, tetralogy of Fallot can be associated with a spectrum of lesions known as -#T-9 $$ 5cardiac defects, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia6. -ytogenetic analysis may demonstrate deletions of a segment of chromosome band $$'11 5)i?eorge critical region6. #blation of cells of the neural crest has been shown to reproduce conotruncal malformations.

These abnormalities are associated with the )i?eorge syndrome and branchial arch abnormalities. The hemodynamics of tetralogy of Fallot depend on the degree of right ventricular 5AD6 outflow tract obstruction 5AD8T86. The ventricular septal defect 5D7)6 is usually nonrestrictive, and the AD and left ventricular 51D6 pressures are e'ualiCed. ,f the obstruction is severe, the intracardiac shunt is from right to left, and pulmonary blood flow may be markedly diminished. ,n this instance, blood flow may depend on the patent ductus arteriosus 5")#6 or bronchial collaterals.

CHA-TER 3 DISCUSSION The tetralogy of fallot is the disease usually occur in children with trisomy in his or her chromosome $1 generally we call it down syndrome. ,n tetralogy of fallot many children have high mortality level because the abnormalities of his or her heart such as Dentricular 7eptal )efect, 8verriding #orta, 7ub+pulmonary 8bstruction, and Aight Dentricular 9ypertrophy. 4ven this disease have high mortality rate but we can reduce it if there is a surgery treatment performs such as Tetralogy of Fallot is repaired with open+heart surgery, either soon after birth or later in infancy. The timing of the surgery will depend on how narrow the pulmonary artery is. 8ver the past few decades, the diagnosis and treatment of tetralogy of Fallot have greatly improved. 2ost children who have this heart defect survive to adulthood. 9owever, they@ll need lifelong medical care from specialists to help them stay as healthy as possible. 5httpEFFwww.nhlbi.nih.govFhealthFhealth+topicsFtopicsFtofF6

7urgery is the only effective treatment for tetralogy of Fallot. There are two types of surgery that may be performed, including intracardiac repair or a temporary procedure that uses a shunt. 2ost babies and children will have intracardiac repair. Tetralogy of Fallot treatment for most babies involves a type of open+heart surgery called intracardiac repair. This surgery is typically performed during the first year of life. )uring this procedure, the surgeon places a patch over the ventricular septal defect to close the hole between the ventricles. 9e or she also repairs the narrowed pulmonary valve and widens the pulmonary arteries to increase blood flow to the lungs. #fter intracardiac repair, the o&ygen level in the blood increases and your baby@s symptoms will lessen. 8ccasionally babies need to undergo a temporary surgery before having intracardiac repair. ,f your baby was born prematurely or has pulmonary arteries that are underdeveloped 5hypoplastic6, doctors will create a bypass 5shunt6 between the aorta and pulmonary artery. This bypass increases blood flow to the lungs. :hen your baby is ready for intracardiac repair, the shunt is removed. :hile most babies do well after intracardiac repair, complications are possible. "ossible complications are chronic pulmonary regurgitation, in which blood leaks through the pulmonary valve, and an irregular heartbeat 5arrhythmia6. 7ometimes blood flow to the lungs is still restricted after intracardiac repair. ,nfants and children with these complications may re'uire another surgery, and in some cases, their pulmonary valves may be replaced by artificial valves. "ulmonary valve replacement sometimes isn@t necessary until decades after the original surgery. ,n addition, as with any surgery, there@s a risk of infection, une&pected bleeding or blood clots. #rrhythmias are usually treated with medication, but some people may need a pacemaker or implantable defibrillator later in life. -omplications can continue throughout childhood, adolescence and adulthood. >our child will need lifelong medical follow+up to monitor for and treat any complications. 5httpEFFwww.mayoclinic.comFhealthFtetralogy+of+fallotF)700/10F)74-T,8*Gtreatments+ and+drugs6

CHA-TER 3 CONCLUSION -hromosome is a part of )*# that hold the genes,the chromosome is a main control to build normally so if there is a wrong when coding the gene such as trisomy can make many abnormalities that we can found in trisomy $1 or down syndrome. ,n down syndrome children we can found many abnormalities in their physic and organic. The tetralogy of fallot is an abnormalities in heart because of trisomy $1. There is high mortality rate in tetralogy fallot children before they have surgery but after we do the surgery the mortality rate can be reduce to the lower level.

REFERENCES 1. Tetralogy of Fallot. (7 *ational 1ibrary of 2edicine. #vailable at httpEFFwww.ncbi.nlm.nih.govFpmcFarticlesF"2-$/01%0HF #ccessed )ecember 30,$01$ $. 8verview the Tetralogy of Fallot. 2edscape. #vailable at httpEFFemedicine.medscape.comFarticleF$030H.H+overview. #ccessed )ecember 30,$01$
3. :hat ,s Tetralogy of FallotI. The *ational 9eart, 1ung, and 3lood ,nstitute. #vailable at httpEFFwww.nhlbi.nih.govFhealthFhealth+topicsFtopicsFtofF. #ccessed )ecember 30,$01$

.. -hromosome. *ational ,nstitute of 9ealth. #vailable at httpEFFwww.nlm.nih.govFmedlineplusFencyFarticleF00$3$7.htm. #ccessed )ecember 30,$01$