CHAPTER I

PRELIMINARY
1.1 Triggers
A 5-month-old girl was brought to Puskesmas because she was still
unable to roll to her sides or to lift her head.
The pregnancy history was unremarkable, she was born at full term by
spontaneous delivery, and was appropriate for gestation age (2.450 grams).
Her weight gain according to KMS (Kartu Menuju Sehat) was 200 grams
during the 1st month, 250 grams during the 2nd month, 200 grams during the
3rd month, 150 grams during the 4th month, and 150 grams during the 5th
month. Her weight on 5th month was 3.400 grams. Her mother gives her
breast milk and formula with ratio 40% (breast milk) and 60% (formula). She
often became fussy in the evening. She was only able to drink up to 30 mL of
milk at each feed and had to stop because of heavy breathing. She can take 60
mL of milk in two feeding sessions. You find murmur on physical
examination.
1.2 Clarification and Definition
1. Pregnancy : the stage of a female after the conception until the termination
of gestation.
2. Breast milk : an emulsion of fat in solution protein lactose and in organic
salts, which is useful as a food for infants.
3. KMS (Kartu Menuju Sehat) : card which have many growth graphics.
4. Physical examination : examination of patient with the use of this method
as inspection, palpation, percussion, and auscultation.
5. Murmur : an auscultation sound especially sounds periodic short duration
and comes from the heart and blood vessel.

1.3 Keyword
1. 5-month-old girl, 3.400 grams (her weight)
2. Still unable to roll to her sides or lift her head
3. 2.450 grams, when she was born
4. Her mother give her 40% breast milk and 60% formula
5. Only able to drink up 30 mL in each session because of heavy breathing
6. Fussy in the evening
7. Murmur and physical examination
1.4 Problem Identification
What is the correlation between breast milk and formula feeding to the
infant since born with growth and development problem?
1.5 Problem Analysis
5-month-old girl

Congenital heart

(3.400 grams)

disease

Weight

Nutrition

Breast milk

Formula

Development of
motor disturbance
1.6 Hypotheses
The correlation is breast milk and formula feeding since born can
affect the growth and development infant.
1.7 Learning Issue
1. Growth and development
a. Definition
b. Factors

c. Normal weight
d. Development stages
2. KMS (Kartu Menuju Sehat)
a. Definition
b. Example
3. Nutrition
a. Definition
b. Breast milk
c. Formula
d. Impact of lack nutrition
e. The importance of exclusive breast feeding for infants with age 0-6
month old
4. Congenital heart disease
a. Definition
b. Symptom
c. Etiology
d. Classification
e. Organogenesis of heart
5. Failure to thrive
a. Definition
b. Symptom

c. Etiology
d. Complication

CHAPTER II
DISCUSSION
2.1 Growth and Development
2.1.1

Definition
Growth is a normal process increase the size of the organism
caused by the increase of tissue similar to that which has been there
before. Growth is also an increase in the number and, size of cells as
they divide and synthesize new proteins; results in increased size and
weight of the whole or any of its parts. can be viewed as a quantitative
change.[1]
Development is a process of growth and differentiation.
Development is a gradual change and expansion; advancement from a
lower to a more advanced stage of complexity the emerging and
expanding of the individual's, capacities through growth, maturation,
and learning can be viewed as a qualitative change.[1]
Growth is associated with major problems or changes in size at
the individual level that can be measured by weight (grams, pounds,
kilograms), length (centimeters, meters) and bone age. Development is
the increased ability of the structure and function of a more complex
body in a regular pattern as a result of the maturation process. This
includes the development of emotional, intellectual and behavior as a
result of interaction with the environment.[2]
It can be concluded that growth has an impact on the physical
aspects, whereas the development of functions is related to the

maturation of the individual. The second incident occurred in a single

file on an individual. Important period in the development of the child
is a toddler. Because at this time, growth and evelopment are
happening very fast and will determine child development in the
future.[2]

2.1.2

Factors
a. Biologic Influences
Biologic influences on development include genetics, in utero
exposure to teratogens, the long-term negative effects of low
birthweight, postnatal illnesses, exposure to hazardous substances,
and maturation. Adoption and twin studies consistently show that
heredity accounts for approximately 40% of the variance in IQ and
in other personality traits, such as sociability and desire for novelty,
whereas shared environment accounts for another 50%. The
negative effects on development of prenatal exposure to teratogens,
such as mercury and alcohol, and of postnatal insults, such as
meningitis and traumatic brain injury, have been extensively
studied. Any chronic illness can affect growth and development,
either directly or through changes in nutrition, parenting, or peer
interactions.[3]
The age at which children walk independently is similar around
the world, despite great variability in child-rearing practices. The
attainment of other skills, such as the use of complex sentences, is
less tightly bound to a maturational schedule. Maturational changes
also

generate

behavioral

challenges

at

predictable

times.

Decrements in growth rate and sleep requirements around 2 years

of age often generate concern about poor appetite and refusal to
nap. Although it is possible to accelerate many developmental

milestones (toilet training a 12 month old or teaching a 3 years old

to

read),

the

long-term

benefits

of

such

precocious

accomplishments are questionable. [3]

In addition to physical changes in size, body proportions, and
strength, maturation brings about hormonal changes. Sexual
differentiation, both somatic and neurologic, begins in utero. Both
stress and reproductive hormones affect brain development as well
as behavior throughout development.[3]

b. Environment
Environmental factors may include prenatal environment,
environment postnatal, and hormonal factors. Prenatal factors is an
environment in content, ranging from conception to birth include
maternal nutrition during pregnancy, fetal position, the use of
drugs, alcohol or smoking. Postnatal environmental factors that
affect children's growth includes cultural environment, socioeconomic, family, nutrition, child's position in the family and
health status.[4]

c.

Psychologic Influences: Attachment and Contingency

The influence of the child-rearing environment dominates most
current models of development. Infants in hospitals and
orphanages, devoid of opportunities for attachment, have severe
developmental deficits. Attachment refers to a biologically
determined tendency of a young child to seek proximity to the
parent during times of stress and also to the relationship that allows
securely attached children to use their parents to reestablish a sense
of well-being after a stressful experience. Insecure attachment may
be predictive of later behavioral and learning problems.[3]

At all stages of development, children progress optimally when

they have adult caregivers who pay attention to their verbal and
nonverbal cues and respond accordingly. In early infancy, such
contingent responsiveness to signs of overarousal or underarousal
helps maintain infants in a state of quiet alertness and fosters
autonomic selfregulation. Contingent responses (reinforcement
depending on the behavior of the other) to nonverbal gestures
create the groundwork for the shared attention and reciprocity that
are critical for later language and social development. Children
learn best when new challenges are just slightly harder than what
they have already mastered, a degree of difficulty dubbed the zone
of proximal development. Psychologic forces, such as attention
problems or mood disorders, will have profound effects on many
aspects of an older childs life.[3]

d. Social Factors: Family Systems and the Ecologic Model

Contemporary models of child development recognize the
critical importance of influences outside of the motherchild dyad.
Fathers play critical roles, both in their direct relationships with
their children and in supporting mothers. As traditional nuclear
families become less dominant, the influence of other family
members (grandparents, foster and adoptive parents, same-sex
partners)

becomes

increasingly

important.

Children

are

increasingly raised by unrelated caregivers while parents work or

while they are in foster care. Families function as systems, with
internal and external boundaries, subsystems, roles, and rules for
interaction. In families with rigidly defined parental subsystems,
children may be denied any decision-making, exacerbating
rebelliousness. In families with poorly defined parentchild

boundaries, children may be required to take on responsibilities

beyond their years, or may be recruited to play a spousal role.[3]
The family system, in turn, functions within the larger systems
of

extended

family,

subculture,

culture,

and

society.

Bronfenbrenners ecologic model depicts these relationships as

concentric circles, with the parentchild dyad at the center (with
associated risks and protective factors) and the larger society at the
periphery. Changes at any level are reflected in the levels above
and below. The shift from an industrial economy to one based on
service and information is an obvious example of societal change
with profound effects on families and children.[3]
e. Unifying Concepts: The Transactional Model, Risk, and Resilience
The transactional model proposes that a childs status at any
point in time is a function of the interaction between biologic and
social influences. The influences are bidirectional: Biologic factors,
such as temperament and health status, both affect the child-rearing
environment and are affected by it. A premature infant may cry
little and sleep for long periods; the infants depressed parent may
welcome this good behavior, setting up a cycle that leads to poor
nutrition and inadequate growth.[3]
The childs failure to thrive may reinforce the parents sense of
failure as a parent. At a later stage, impulsivity and inattention
associated with early, prolonged undernutrition may lead to
aggressive behavior. The cause of the aggression in this case is not
the prematurity, the undernutrition, or the maternal depression, but
the interaction of all these factors. Conversely, children with
biologic risk factors may nevertheless do well developmentally if
the childrearing environment is supportive. Premature infants with
electroencephalographic evidence of neurologic immaturity may be
at increased risk for cognitive delay. This risk may only be realized
8

when the quality of parentchild interaction is poor. When parent

child interactions are optimal, prematurity carries a reduced risk of
developmental disability.[3]
Children growing up in poverty experience multiple levels of
developmental risk: increased exposure to biologic risk factors,
such as environmental lead and undernutrition, lack of stimulation
in the home, and decreased access to interventional education and
therapeutic experiences. As they respond by withdrawal or acting
out, they further discourage positive stimulation from those around
them. Children of adolescent mothers are also at risk. When early
intervention programs provide timely, intensive, comprehensive,
and prolonged services, at-risk children show marked and
sustained upswings in their developmental trajectory. Early
identification of children at developmental risk, along with early
intervention to support parenting, is critically important. An
estimate of developmental risk can begin with a tally of risk
factors, such as low income, limited parental education, and lack of
neighborhood resources.[3]
Protective (resilience) factors must also be considered. These
factors, like risk factors, may be either biologic (temperamental
persistence, athletic talent) or social. The personal histories of
children who overcome poverty often include at least 1 trusted
adult (parent, grandparent, teacher) with whom the child has a
special, supportive, close relationship.[3]

2.1.3

Normal weight
Rules of Thumb for Growth Weight :[4]
1. Weight loss in first few days: 5-10% of birth weight
2. Return to birth weight: 7-10 days of age
9

Double birth weight: 4-5 months

Triple birth weight: 1 year
Quadruple birth weight: 2 years
3. Average weight:
3,5 kg at birth
10 kg at 1 year
20 kg at 5 years
30 kg at 10 years
4. Daily weight gain:
20-3- grams for first 3-4 months
15-20 grams of the first year
2.1.4

Development stage
Development of children is about maturating of organs
physiology. The way how to know is the childrens organ has matured
is by observe their cognitive, physical and social aspect. Below is the
table about milestone of physical, cognitive and social of children
normally.[5]

10

Fig. 2.1.4[5]
2.2 KMS (Kartu Menuju Sehat)
2.2.1

Definition

11

Kartu Menuju Sehat (KMS) for toddlers is a card that contains

child's normal growth curve based on anthropometric indices weight
for age and differentiated by gender.[6] So, function of KMS are for
record childrens weight every month, as monitoring media of growth
children, and as counseling media about nutrition and health.[7]

2.2.2

Example
Below is the recently example of KMS.[6] In the left side is the
KMS for boy (blue color) and the right one is for girl (pink color).

12

Fig. 2.2.2 A[6]

Fig. 2.2.2 B[7]

13

Fig. 2.2.2 C[7]

2.3 Nutrition
2.3.1

Definition
Nutrients are nutrients and other substances associated with
health and disease, including the whole process in the body man to
receive food or materials from the environment his life and the use of
these materials for important activities in his body and spend the rest. [9]
And according to the medical dictionary Dorland, nutrition is a process
uptake and metabolism of nutrient (food) by the organism to stay alive
and growth could apply.[1]
So nutrition is substances of food that will be processed by the
body to produce a more simple conformation that the body can use for
growth and development.

2.3.2

Breast milk

14

Breast milk provide adequate water, and additional water intake

is not required until complementary foods are introduced. Arachidonic
acid (ARA) and docosahexaenoic (DHA) are present in breast milk,
are required for normal growth and development. DHA is present in
then retina and is involved in the visual evoked response in infants.[3]
Breast milk is considered the optimal source of proteins for
infants and is the reference amino acid composition by which biologic
quality is determined for infants. If a single amino acid in a food
protein source is low or absent but is required to support normal
metabolism, that specific amino acid becomes the limiting nutrient.[3]
Breast milk is a poor source of vitamin D. Vitamin D
insufficiency is more common than previously thought in infants and
children. Vitamin D is central to calcium and bone metabolism, but is
also an important determinant of various nonosseous health outcomes.
[3]

Breast milk (per dL)

67
1,1
(6%)
80:20

Calories (kkal)
Protein
(% calories)
Whey protein rasio/ casein
Fat (g)
(% calories)
MCT/Medium-chain triglyceride (%)
Carbohydrate
(% calories)
Source
Mineral
Calcium (mg/L)
Phosphor (mg/L)
Natrium (mEq/L)
Vitamin D
Osmolalitas (mOsm/L)
Renal solute load (mOsm/L)

4,0
(55%)
0
7,2
(40%)
Lactose
290
140
8,0
Varies
253
75

Tab. 2.3.3[4]

15

2.3.3

Formula
The protein content of infant formula has traditionally been
considerably higher than that of human milk, mainly in the form of
casein and protein is harder to digest, generally can cause intestinal
obstruction. Cow's milk contains more fat and phosphor. formula-fed
infants have significantly higher concentrations of serum amino acids,
insulin, and blood urea nitrogen than do breastfed infants. Formula-fed
infants have a different growth pattern, par- ticularly gaining more
body fat and weight from 3 to 6 mo and later, and have higher serum
concentrations of amino acids, insulin, and blood urea nitrogen than do
breastfed infants.[9] Thats why the composition of formula doesnt
have enough nutrition for the infant with age 0-6 months old. The risk
of formula feeding for infant with age 0-6 months old is delay
development.

Standard
formula (per
dL)
67
1,5
(9%)
620:40, 18:8

Premature
formula (per
dL)
67-81
2,0-2,4
(12%)
60:40

Soy
formula
(per dL)
67
1,7
(10%)
Protein
kedelai,
metionin

Fat (g)
(% calories)
MCT (%)
Carbohydrate
(% calories)
Source

3,6
(50%)
0
6,9-7,2
(41%)
Lactose

3,4-4,4
(45%)
40-50
8,5-8,9
(42%)
Lactose,
corn syrup

3,6
(48%)
0
6,8
(40%)
Corn syrup,
sucrose

Mineral
Calcium (mg/L)

420-550

1115-1452

700

Calories (kkal)
Protein
(% calories)
Whey protein
rasio/ casein

Nutra-migen
(per dL)

Preges-timil
(per dL)

67
1,9
(11%)
Kasein
terhidrolisat
plus L-sistin,
L-tirosin,Ltriptofan
3,3
(45%)
0
7,3
(44%)
Solid corn
syrup, corn
flour

67
1,9
(11%)
Kasein
terhidrolisat
plus L-sistin,
L-tirosin,Ltriptofan
3,8
(48%)
55
6,9
(41%)
Solid corn
syrup, corn
flour,
dextrose
777

635

16

Phosphor (mg/L)
Natrium
(mEq/L)
Vitamin D
Osmolalitas
(mOsm/L)
Renal solute load
(mOsm/L)

280-390
6,5-8,3
400
270
100-126

561-806
11-15

500
13

420
14

500
14

1000-1800
230-270

400
200-220

400
290

400
290

175-213

126-150

175

125

Tab. 2.3.3[4]
2.3.4

Impact of Lack Nutrition

Inadequate nutrition before birth and in the first years of life
can seriously interfere with brain development and lead to such
neurological and behavior disorders as learning disabilities and mental
retardation. Low birth born can happen if in gestational periodic, the
mother has a lack nutrition. A children with chronic disease, like heart
failure and cystic fibrosis, need a calories consumption more. Its for
their immunity. If lack nutrition happen, they will have a weak
immunity system that will cause more problem like easily infected by
viruses. So lack nutrition can aggravate condition of the infant.
Malnutrition can cause failure to thrive and infected malnutrition
cycle.[9]
In the below there is a figure that explain about effects of early
nutrition. The effect in short term is brain development, growth and
muscle mass, body composition, and metabolic programming of
glucose, lipids, protein, hormones/receptor/gene. So if lack nutrition
happen it will be affect brain development, growth, and metabolism
body. And if it continues, the long term effect will appear like problem
of cognitive, education, and immunity. The other complication will
appear too, like stroke and diabetes.[9]

17

The Fig. 2.3.4[9]

2.3.5

The Importance of Exclusive Breast Feeding for Infants with Age

0-6 month old
Breast feeding provides optimal nutrition for the normal infant
during the early months of life. The World Health Organization
recommends exclusive breast feeding for approximately the first 6
months of life, with continued breast feeding along with appropriate
complementary foods through the first 2 years of life. Numerous
immunologic factors in breast milk (including secretory IgA,
lysozyme, lactoferrin, bifidus factor, and macrophages) provide
protection against GI and upper respiratory infections. In developing
countries, lack of refrigeration and contaminated water supplies make
formula feeding hazardous. Although formulas have improved
progressively and are made to resemble breast milk as closely as
possible, it is impossible to replicate the nutritional or immune
composition of human milk. Additional differences of physiologic
importance continue to be identified. Furthermore, the relationship
developed through breast feeding can be an important part of early
maternal interactions with the infant and provides a source of security
and comfort to the infant.[10]

18

Absolute contraindications to breast feeding are rare. They

include tuberculosis (in the mother) and galactosemia (in the infant). In
developing countries, the benefits of breast feeding, especially the
protection of the child against diarrheal illness and malnutritio.[10]
In newborns less than 1500 grams, human milk should be
fortified to increase protein, calcium, phosphorus, and micronutrient
content as well as caloric density. Breast-fed infants with cystic
fibrosis can be breast-fed successfully if exogenous pancreatic
enzymes are provided. If normal growth rates are not achieved in
breast-fed infants with cystic fibrosis, energy or specific macronutrient
supplements may be necessary. All infants with cystic fibrosis should
receive supplemental vitamins A, D, E, K, and sodium chloride.[10]
So we can make a conclusion that the composition of breast
milk has function that the infants need. We know that the infants with
age 0-6 month old still have a weak immunity system, so if the infants
dont get an enough nutrition that suit with their requirement, they can
get sick or infect by pathogen easily.
And then why the infants with age 0-6 month need an exclusive
breast milk? Because breast milk is source of unsaturated fatty acid
with long carbon atom chain (LCPUFA, long-chain polyunsaturated
fatty acid). LCPUFA is important for brain development. And the
interesting fact is some LCPUFA (n6 and n-3) cannot be made by
human and it just produce by a woman in last pregnancy trimester and
pascanatal. While in 0-6 month periodic is the gross and fine motoric
development, personal-social and language development. The biggest
brain development is in age 0-6 months old. That why if the infants
dont get an enough nutrition; malnutrition, failure to thrive and of
course delay development can be happen.[11]

19

2.4 Congenital Heart Disease

2.4.1

Definition
Congenital heart defect (CHD) can be defined as an anatomic
malformation of the heart or great vessels which occurs during
intrauterine development, irrespective of the age at presentation. [12]
Congenital heart diseases are abnormalities of the heart or great vessels
that are present at birth. Most such disorders arise from faulty
embryogenesis during gestational weeks 3 through 8, when major
cardiovascular structures development.[13]

2.4.2

Symptom
Sometimes congenital heart diseases dont have symptom or
signal. So the doctor needs to do a physical examination before make
diagnose. These signs and symptoms may include:[14]
a. Rapid breathing
b. Cyanosis (a bluish tint to the skin, lips, and fingernails)
c. Fatigue (tiredness)
d. Poor blood circulation
e. Don't cause chest pain or other painful symptoms
f. Heart murmur
Normal growth and development depend on a normal workload
for the heart and normal flow of oxygen-rich blood to all parts of the
body. Babies who have congenital heart defects may have cyanosis and
tire easily while feeding. As a result, they may not gain weight or grow

20

as they should. Older children who have congenital heart defects may
get tired easily or short of breath during physical activity.[14]

2.4.3

Etiology
The etiology of congenital heart diseases usually caused by
altered development of embryonic structured, or failure of the
structural and function development. Although descriptions of
abnormal heart development in fetuses and babies have remained
unclearly defined, substantial knowledge about the etiology of CHD
have been made during the last decade. Some malformations may be
directly inherited through vertical gene transfer, underlying the
individuals genetic disorder, or be associated with the consequences of
an environmental toxin or diet. Alternatively, random errors in cell
migration leading to improper cardiac development are possible.
Together, the findings emphasize the complex and multifactorial
causes of the CHD where additional research remain needed. Better
understanding for the etiology and risk factors of CHD is important,
and will help pave the way for proper preventative measures and
treatment guidelines by physicians as well as public health officers.
The followings represent all reported potential causes of CHD to date.
[15]

a.

Genetic Disorders
The human genome, which contains approximately 20,000 to
25,000 genes, is comprised of coding and non-coding regions that
are essential for proper protein structure and expression. The
coding DNA sequence determines the amino acid sequence and
subsequently the protein structure, and structure determines
function. The non-coding sequences may contain promoters and

21

regulation of transcription. In general, the DNA sequences remain

relatively unchanged during vertical genetic transfer to the
offspring. Nonetheless, occasional changes in the nucleotide
sequences, referred to as mutations, and horizontal gene transfer do
occur. Mutations range from a single nucleotide substitution, also
called single nucleotide polymorphism (SNP), to a deletion or
insertion of a DNA fragment. Some mutations only appear visible
at the level of the chromosome (chromosome abnormalities), while
some mutations cause phenotypic changes and a heritable trait to
the offspring. Any change in the DNA sequence, including SNPs,
insertion, deletion and shuffling of DNA fragment, that results in
frameshift mutation of the gene-encoding sequence likely affects
protein folding and protein function.[15]
Abnormal protein folding structure and function can cause an
improper development of many organs, including the heart. Hence,
genetics is responsible for one major role in cardiovascular
malformation, and indeed the genetic disorders represent the most
common cause of CHD. Certain chromosome abnormities were
linked to specific types of congenital heart lesions, and several
types have been reported to be associated with specific gene
defects.[15]

b.

Chromosome Defect
Defects in chromosomes associated with CHD are diverse;
some

examples

are

aneuploidy

or

polyploidy,

improper

rearrangement during mitosis and meiosis, translocation, inversion

or deletions. Importantly, certain chromosomes were reported to
have a greater degree of significance and of percentages to heart

22

development, and thus the same defects in different chromosomes

may not result in similar defects.[15]
Among all CHDs detected during infant period, the
chromosomal defects account for approximately 6 - 10%. Defects
in chromosomes X, 3, 4, 5, 7, 8, 9, 10, 11, 13, 17, 18, 21 and 22
showed association with CHD. Nonetheless, the table summarizes
the data reported by different studies, some conducted in different
times and places. The incidence of CHD generally depends on
multiple factors besides the type of genetic disorders and the
chromosome where the disorders take place. The other factors
include how many fetuses are conceived by the mothers, and how
many of these fetuses reach term alive. Further, the affected
number of fetuses also depends on the rate of the survival of the
affected fetuses and the increased use of therapeutic abortion.[15]

c.

Single Gene Disorder

Heart development is controlled by multiple genes regulating a
complicated network of transcription regulation, translation
regulation, and signal transduction pathways, ranging from a
control of muscle growth, patterning to contractility, to name a few.
However, mutations is only one or a few components of the cardiac
gene network can result in the improper development of the heart.
One type of heart defect could also be caused by different types of
single gene disorders. Since the 1990s, researchers have identified
more than 10 different single gene mutations that can lead to heart
defects. To date, many genes responsible for several congenital
heart defects have been identified.[15]

23

Transcription Factor Genes transcribe and translate proteins

that serve to interact cooperatively with each other to control gene
expression. NKX2-5, the NK family, on chromosome 5q35;
Homeobox-containing genes play critical roles in regulating tissuespecific gene expression essential for specification of heart muscle
progenitors.[15]

d.

Polygenic/Multifactorial Inheritance
Multifactor inheritance, also known as polygeny, relies on the
concept of threshold limit, when the threshold limit of the
combined

genetic

and

environmental

factors

is

reached,

malformation results. Below the threshold level, the malformation

is absent. One common key risk is that the babies are genetically
oriented towards some level of atypical cardiovascular formation
and/or development, together with the exposure to other causative
factors. Different stages of cardiac development possess various
degrees of vulnerability to environmental factors. Some clues to
multifactorial inheritances are a reason for CHD, including a lack
of consistent CHD people in the pedigree of the family, and an
occasional abnormality with no recognizable pattern in the
pedigree of the family.[15]

e.

Maternal Factors
Various teratogenic agents have been implicated as the
etiologic agents of CHD. For example, women who have insulin-

24

dependent diabetes mellitus, and those who take certain

medications, such as acne and epilepsy medication, have a higher
risk for having babies with CHD. Women with drug or alcohol
abuse also have predisposing risks. The basic biological principle
mechanism of teratogens action that cause CHD include
susceptible

stage

of

organogenesis

development,

genetic

differences in susceptibility, dose response relationships, and

specific actions of the teratogenic agent. The highest degree of
embryonic and fetal sensitivity or susceptibility to adverse effects
of exposure to teratogens occurs during the first trimester,
especially during the 2nd to 8th week of embryonic life. Dose
response relationship implies that for each teratogen there is a dose
threshold, theoretic dose below which no adverse effects can be
observed.[15]

f. Maternal Health and Medical Disease

Certain chronic illnesses in the mother, such as diabetes, and
other viral infections, such as the flu, may contribute to heart
defects. Maternal diabetes mellitus and all cardiac defects can be a
factor of congenital heart diseases in the children too. This excess
risk is related to the level of maternal hyperglycemia during the
embryonic period. The overall risk of one or more major anomalies
is 6 to 7 percent, which is double the risk in the general obstetric
population. Congenital heart defects increased in diabetic
pregnancy include heterotaxy, TOF, TGA, septal defects,
anomalous pulmonary venous return, and various defects causing
left or right outflow obstruction. The possible mechanism is that
embryonic hyperglycemia may cause disturbances in metabolism
of arachidonic acid, inositol and promote excessive formation of

25

oxygen free radicals which causes mitochondrial damage, and

activation of apoptotic pathways.[15]
Maternal Stress; intense maternal

stress

during

the

periconceptional period was associated with increased risk of

delivering infants with certain congenital anomalies particularly
with conotruncal heart defects and neural tube defects.[15]
Maternal obesity; many studies have examined the association
between maternal pre-pregnancy and during pregnant obesity with
CHD such as ASD, VSD, conotruncal defects and right ventricular
outflow tract defects. Several aspects of such potential associations
between obesity and heart defects remain unclear due to studies of
obesity and heart defects which are difficult to assess and compare
because of the possibility of bias in obesity that may associated
with unrecognized diabetes. While some literature found no
association between maternal weight and isolated CHDs.[15]
Maternal drug and medical use; consumption of many drugs,
such as thalidomide and isotretinoin, during early gestation can
interfere with the normal cardiogenesis of the fetus. Some studies
suggest that drinking alcohol or using cocaine, especially during
the pregnancy, can increase the risk of congenital heart defects.[16]
Smoking during pregnancy enhances the risk of adverse
pregnancy outcomes such as low birth weight. The relationship
between gestational smoking and congenital heart defects has been
studied, however the information is inconclusive. A recent study in
Greece found that periconceptional tobacco smoking was
associated with increased risk of CHD in the offspring (OR=2.7)
and has been associated with a quantity of cigarette smoking.[15]
2.4.4

Classification
Congenital heart defects may be classified into acyanotic and
cyanotic depending upon whether the patients clinically exhibit
cyanosis. The acyanotic defects may further be subdivided into

26

obstructive lesions and left-to-right shunt lesions. The cyanotic defects,

by definition, have right-to-left shunt. The total percent is not 100
because some of the heart defects cannot be classified into the
categories listed.[16]

2.4.5

Organogenesis of Heart
a. Establishment of the Cardiogenic Field[17]
The vascular system appears in the middle of the third week,
when the embryo is no longer able to satisfy its nutritional
requirements by diffusion alone. Cardiac progenitor cells lie in the
epiblast, immediately lateral to the primitive streak. From there
they migrate through the streak. Cells destined to form cranial
segments of the heart, the outflow tract, migrate first, and cells
forming more caudal portions, right ventricle, left ventricle, and
sinus venosus, respectively,migrate in sequential order.
The cells proceed toward the cranium and position themselves
rostral to the buccopharyngeal membrane and neural folds . Here
they reside in the splanchnic layer of the lateral plate mesoderm. At
this time, late in the presomite stage of development, they are
induced by the underlying pharyngeal endoderm to form cardiac
myoblasts. Blood islands also appear in this mesoderm, where they
will form blood cells and vessels by the process of vasculogenesis
With time, the islands unite and form a horseshoe-shaped
endothelial-lined tube surrounded by myoblasts.This region is
known as the cardiogenic field; the intraembryonic cavity over it
later develops into the pericardial cavity
In addition to the cardiogenic region, other blood islands
appear bilaterally, parallel and close to the midline of the
embryonic shield.These islands form a pair of longitudinal vessels,
the dorsal aortae.

27

Fig. 2.4.5 A[17]

Fig. 2.4.5 B[17]

b. Formation and Position of the Heart Tube[17]
Initially, the central portion of the cardiogenic area is anterior
to the buccopharyngeal membrane and the neural plate. With
closure of the neural tube and formation of the brain vesicles,
however, the central nervous system grows cephalad so rapidly that
it extends over the central cardiogenic area and the future
pericardial cavity. As a result of growth of the brain and cephalic
folding of the embryo, the buccopharyngeal membrane is pulled
forward, while the heart and pericardial cavity move first to the
cervical region and finally to the thorax. As the embryo folds
cephalocaudally, it also folds laterall. As a result, the caudal
regions of the paired cardiac primordia merge except at their

28

caudal most ends. Simultaneously, the crescent part of the

horseshoe-shaped area expands to form the future outflow tract and
ventricular regions. Thus, the heart becomes a continuous
expanded tube consisting of an inner endothelial lining and an
outer myocardial layer. It receives venous drainage at its caudal
pole and begins to pump blood out of the first aortic arch into the
dorsal aorta at its cranial pole.
The developing heart tube bulges more and more into the
pericardial cavity,however, the tube remains attached to the dorsal
side of the pericardial cavity by a fold of mesodermal tissue, the
dorsal mesocardium.No ventral mesocardium is ever formed. With
further development, the dorsal mesocardium disappears, creating
the transverse pericardial sinus, which connects both sides of the
pericardial cavity. The heart is now suspended in the cavity by
blood vessels at its cranial and caudal poles.During these events,
the myocardium thickens and secretes a thick layer of extracellular
matrix, rich in hyaluronic acid, that separates it from the
endothelium. In addition, mesothelial cells from the region of the
sinus venosus migrate over the heart to form the epicardium. Thus
the heart tube consists of three layers: (a) the endocardium,
forming the internal endothelial lining of the heart; (b) the
myocardium, forming the muscular wall; and (c) the epicardium or
visceral pericardium, covering the outside of the tube. This outer
layer is responsible for formation of the coronary arteries,including
their endothelial lining and smooth muscle.
c. Formation of the Cardiac Loop[17]
The heart tube continues to elongate and bend on day 23. The
cephalic portion of the tube bends ventrally, caudally, and to the
right, andthe atrial (caudal) portion shifts dorsocranially and to the
left. This bending, which may be due to cell shape changes, creates

29

the cardiac loop. It is complete by day 28.While the cardiac loop is

forming, local expansions become visible throughout the length of
the tube. The atrial portion, initially a paired structure outside the
pericardial cavity, forms a common atrium and is incorporated into
the pericardial cavity. The atrioventricular junction remains narrow
and forms the atrioventricular canal, which connects the common
atrium and the early embryonic ventricle.. The bulbus cordis is
narrow except for its proximal third. This portion will form the
trabeculated part of the right ventricle. The midportion, the conus
cordis, will form the outflow tracts of both ventricles. The distal
part of the bulbus, the truncus arteriosus, will form the roots and
proximal portion of the aorta and pulmonary artery. The junction
between the ventricle and the bulbus cordis, externally indicated by
the bulboventricular sulcus, remains narrow.It is called the primary
interventricular foramen. Thus, the cardiac tube is organized by
regions along its craniocaudal axis from the conotruncus to the
right ventricle to the left ventricle to the atrial region,
respectively.Evidence suggests that organization of these segments
is regulated by homeobox genes in a manner similar to that for the
craniocaudal axis of the embryo.

Fig. 2.4.5 C[17]

30

2.5 Failure to Thrive

2.5.1

Definition
Failure to thrive is the describes of a growth rate below the
appropriate growth velocity for age. Growth failure in a child is
defined as lack of expected normal physical growth or failure to gain
weight. Failure to thrive or growth failure and malnutrition are the
different things. Malnutrition can be one of factors that cause failure to
thrive.[18]

2.5.2

Symptom
The most common clinical presentation of FTT is poor growth,
which is depicted using standardized growth charts. Poor growth may
be accompanied by physical signs such as alopecia, reduced
subcutaneous fat or muscle mass, and dermatitis. Syndromes of
marasmus or kwashiorkor are more common in developing countries .
[19]

Weight for corrected age, weight for height, body mass index,
and failure to gain adequate weight over a period of time help define
FTT. Growth parameters should be measured serially and plotted on
growth charts appropriate for the child's sex, age, and, if preterm,
postconceptual age. Growth charts are also available for some known
chromosomal abnormalities, such as Down syndrome or Turner
syndrome.[19]

2.5.3

Etiology

31

The causes of insufficient growth include (1) failure of a

caregiver to offer adequate calories, (2) failure of the child to take in
sufficient calories, (3) failure of the child to retain and use sufficient
calories, and (4) increased metabolic demands. History, physical
examination, and observation of the parent-child interaction in the
clinical or home environment usually suggest the most likely etiologies
and thus direct appropriate workup and management.[19]

32

Fig. 2.5.3[19]

2.5.4

Complication
Malnutrition causes disruption of the body's defense. On the
contrary, the presence of infection increases metabolic needs of
patients and often lead to anorexia. Children with growth failure can
suffer from malnutrition-infection cycle. in this condition, recurrent
infections aggravate malnutrition and eventually cause the child more
susceptible to infection. Children with growth failure should be
evaluated and getting and monitored closely.[4]
Complications of growth failure :[20]
a.

Inadequate food intake and anemia

b.

Lack of appetite and vomiting

c.

Psychosocial disorder

d.

Reduced absorption or digestion of nutrients

e.

Pancreatic insufficiency

f.

Gastro-intestinal : gastro-esophageal reflux, obstructions

g.

Central nervous system causes: increased intracranial pressure,

drugs

h.

Systemic illness: urinary tract infection or other infection,

metabolic disorder

i.

Malabsorption/diarrhea

j.

Renal failure / renal tubular acidosis

k.

Diabetes mellitus or diabetes insipidus

33

l.

Chromosomal or genetic abnormality

m.

Endocrine disorder

n.

Chronic illness (cardiac disease, liver/renal failure, endocrine

disorders, infection, anemia)

CHAPTER III
CONCLUSION

The correlation is breast milk and formula feeding since born can affect
the growth and development infants. The girl has low body mass because of her
congenital heart diseases that make her hard to get nutrition from drink. Thats
also can affect the growth and development in infants.

34

REFERENCE

35

1. Dorland, W. A. Newman. Kamus Saku Kedokteran Dorland. Edisi 29. Jakarta:

Penerbit Buku Kedokteran EGC; 2015.
2. Soetjiningsih. Tumbuh Kembang Anak: Tumbuh-Kembang Anak. Jakarta:
EGC; 1995.
3. Kliegman R. M, et al. Nelson Textbook Of Pediatrics. 20nd Edition. Volume 1.
Canada: Elsevier, Inc; 2015.
4. Marcdante, Karen J, et al. Nelson Ilmu Kesehatan Anak Esensial. Ed. 6.
Singapore: Elsevier; 2011.
5. Rycus, Judith S. and Ronald C. Hughes. The Field Guide to Child Welfare
Volume III: Child Development and Child Welfare. USA: Child Welfare
League

of

America

Press;

1998.

(Available:

http://www.rsd.k12.pa.us/Downloads/Development_Chart_for_Booklet.pdf.
Accessed on September 8th, 2016 00:58 am.)
6. Kementerian Kesehatan RI. Peraturan Menteri Kesehatan Republik Indonesia
Tentang Penggunaan Kartu Menuju Sehat (KMS) Bagi Balita. Jakarta:
Kementerian Kesehatan RI; 2010.
7. Kementerian Kesehatan RI. Buku Kesehatan Ibu dan Anak. Jakarta:
Kementerian Kesehatan dan JICA; 2016.
8. Lnnerdal, Bo. Infant Formula and Infant Nutrition: Bioactive Proteins Of
Human Milk and Implications for Composition of Infant Formulas. Am J Clin
Nutr; 2014.
9. UNICEF. Early Childhood Development: The Key to Full and Productive Life.
UNICEF; 2008.
10. Hay, W. W., et al. Lange : Current Diagnosis and Treatment in Pediatrics.
18th edition. Mac Graw Hills; 2007.
11. Gibney, Michael J., et al. Gizi Kesehatan Masyarakat. Jakarta: EGC, 2009.
12. Rao, P. S. Diagnosis and Management of Acyanotic Heart Disease: Part I Obstructive Lesions. Indian J Pediatr; 2005;72: 496-502.
13. Kumar, V., Cotran R. S., and Robbins S. L. Buku Ajar Patologi. 7th edition.
Vol. 1. Jakarta : Penerbit Buku Kedokteran EGC; 2007.
14. Department of Health and Human Service. Congenital Heart Defect: Sign &
Symptom.

USA:

National

Institute

of

Health;

2011.

(Available:
36

https://www.nhlbi.nih.gov/health/health-topics/topics/chd/symptoms.
Accessed on 8th September 2016 00:48 a.m)
15. Sayasathid, Jarun, Kanchapan Sukonpan and Naraporn Somboonna.
Epidemiology and Etiology of Congenital Heart Diseases, Congenital Heart
Disease - Selected Aspects, Prof. P. Syamasundar Rao (Ed.), InTech; 2012.
(Available from: http://www.intechopen.com/books/congenital-heart-diseaseselected-aspects/epidemiology-and-etiology-of-congenital-heart-diseases
Accessed on 8th September 2016 01:15 a.m)
16. Rao, P. Syamasundar. Congenital Heart Defects A Review, Congenital Heart
Disease Selected Aspects. Indian J Pediatr; 2012.
17. Sadler, Thomas W. Langmans Medical Embryology. 12nd Edition. USA:
Lippincott Williams & Wilkins/Wolters Kluwer Health Inc.; 2012.
18. Rogol, A. D., and G.F. Hayden. Etiologies and Early Diagnosis of Short
Stature and Growth Failure in Children and Adolescents. J Pediatr; 2014.
19. Kliegman, R. M., et al. Nelson Textbook Of Pediatrics. 19th edition. Canada:
Elsevier, Inc.; 2011.
20. Su, Jin joeng. Nutritional Approach to

Thrive. Korean J Pediatr;

2011;54(7):227-228.

37