CASE REPORT

Dilated Cardiomyopathy in a 14-Year-Old Boy

Compiled by:
Abdurrahman Huzaifi Lubis

110100021

Jesselyn Angellee

110100054

Supervisor
dr.Tina Christina L. Tobing, M.Ked(Ped), Sp.A(K)

Pediatric Departement
Central Public Hospital Haji Adam Malik Medan
Medical Faculty of North Sumatera University

TABLE OF CONTENTS

COVER............................................................................................................

TABLE OF CONTENTS................................................................................

ii

CHAPTER I INTRODUCTION...................................................................

CHAPTER II LITERATURE REVIEW......................................................

2.1.........................................................................................................Dilated
Cardiomyopathy.............................................................................
2
2.1.1. Definition............................................................................
2
2.1.2. Epidemiology......................................................................
2
2.1.3. Etiology...............................................................................
2
2.1.4. Pathology............................................................................
3
2.1.5. Pathophysiology.................................................................
3
2.1.6. Diagnosis............................................................................
4
2.1.7. Treatment............................................................................
5
2.1.8. Prognosis.............................................................................
6
2.2.........................................................................................................Congest
ive Heart Failure.............................................................................
2.2.1. Definition............................................................................
2.2.2. Epidemiology......................................................................
2.2.3. Etiology...............................................................................
2.2.4. Classification......................................................................
2.2.5. Pathophysiology.................................................................
2.2.6. Diagnosis............................................................................
2.2.7. Treatment............................................................................

6
6
7
7
8
9
10
11

CHAPTER III CASE REPORT....................................................................

18

3.1 Objective........................................................................................
3.2 Case................................................................................................
3.3 Follow Up......................................................................................

18
18
22

CHAPTER IV DISCUSSION........................................................................

26

CHAPTER V SUMMARY.............................................................................

28

REFERENCES...............................................................................................

29

CHAPTER I
INTRODUCTION
Cardiomyopathies are a group of heart disorders in which the major structural
abnormality is limited to the myocardium, which often result in symptoms of heart failure.
Cardiomyopathies can be classified into three types based on the anatomic appearance and
abnormal physiology of the left ventricle; those are dilated cardiomyopathy, hypertrophic
cardiomyopathy,

and

restrictive

cardiomyopathy.1

Among

the

three

types

of

cardiomyopathies, dilated cardiomyopathy (DCM) is the most common form of

cardiomyopathy in children.2
Dilated cardiomyopathy (DCM) refers to a large group of a heterogeneous myocardial
disorders that are characterized by varying degrees of left ventricular (LV) dysfunction and
dilatation in the absence of chronic increased afterload (e.g. aortic stenosis or hypertension),
or volume overload (e.g. mitral regurgitation).3,4 Dilated cardiomyopathy is a leading cause of
heart failure and heart transplantation in younger adults, it may be idiopathic, familial/genetic
(20-30%), viral, and/or immune.5 Although the most common etiology of dilated
cardiomyopathy remains idiopathic, it is likely that undiagnosed familial/genetic conditions
and myocarditis predominate. The annual incidence of dilated cardiomyopathy in children
younger than 18 years old 0.57 cases per 100,000 per year. Incidence is higher in males,
African Americans, and in infants less than 1 year old.2
The age-adjusted prevalence of dilated cardiomyopathy in the United States averages
36 cases per 100,000 population, and accounts for 10,000 deaths annually. In most registries
in heart failure, approximately 30% to 40% of enrolled patients have dilated cardiomyopathy.
Compared with whites, African Americans have almost 3-fold increased risk for developing
dilated cardiomyopathy, irrespective of comorbidities or socioeconomic factors. The
prognosis in patients with symptomatic heart failure and dilated cardiomyopathy is relatively
poor, with 25% mortality at 1 year and 50% mortality at 5 years. Approximately 25% of
patients with dilated cardiomyopathy with recent onset of heart failure symptoms will
improve within a short time, but patients with symptoms lasting >3 months who present with
severe clinical decompensation generally have less chance of recovery. Patients with
idiopathic dilated cardiomyopathy have a lower total mortality rate than patients with other
types of dilated cardiomyopathy.3

CHAPTER II
LITERATURE REVIEW
2.1.

Dilated Cardiomyopathy

2.1.1. Definition
Dilated cardiomyopathy (DCM) is a primary myocardial disease characterized by
varying degreed of left ventricular (LV) dysfunction and dilatation in the absence of chronic
increased afterload (e.g. aortic stenosis or hypertension), or volume overload (e.g. mitral
regurgitation).4 Dilated forms of cardiomyopathy are characterized by ventricular chamber
enlargement and systolic dysfunction with normal LV wall thickness; usually diagnosis is
made with 2-dimensional echocardiography.6
2.1.2. Epidemiology
The annual incidence of dilated cardiomyopathy in children younger than 18 years old
0.57 cases per 100,000 per year. Incidence is higher in males, African Americans, and in
infants less than 1 year old.2
The age-adjusted prevalence of dilated cardiomyopathy in the United States averages
36 cases per 100,000 population, and accounts for 10,000 deaths annually. In most registries
in heart failure, approximately 30% to 40% of enrolled patients have dilated cardiomyopathy.
Compared with whites, African Americans have almost 3-fold increased risk for developing
dilated cardiomyopathy, irrespective of comorbidities or socioeconomic factors. The
prognosis in patients with symptomatic heart failure and dilated cardiomyopathy is relatively
poor, with 25% mortality at 1 year and 50% mortality at 5 years.3
2.1.3. Etiology
Causes of dilated cardiomyopathy include the following:7
1. Genetics
2. Secondary to other cardiovascular disease: ischemia, hypertension, valvular
disease, tachycardia induced
3. Infectious: viral, rickettsial, bacterial, fungal, metazoal, protozoal
4. Probable infectious: Whipple disease, Lyme disease
5. Metabolic: endocrine diseases (e.g. hyperthyroidism, hypothyroidism,
acromegaly, myxedema, hypoparathyroidism, hyperparathyroidism), diabetes
mellitus, electrolyte imbalance (e.g. potassium, phosphate, magnesium)

6. Nutritional: thiamine deficiency (beriberi), protein deficiency, starvation,

carnitine deficiency
7. Toxic: drugs, poisons, foods, anesthetic gases, heavy metals, ethanol
8. Collagen vascular disease
9. Infiltrative: hemochromatosis, amyloidosis, glycogen storage disease
10. Granulomatous (sarcoidosis)
11. Physical agents: extreme temperatures, ionizing radiation, electric shock,
nonpenetrating thoracic injury
12. Neuromuscular diorders: muscular dystrophy, Friedreich diease, myotonic
dystrophy
13. Primary cardiac tumor (myxoma)
14. Senile
15. Peripartum
16. Immunologic: postvaccination, serum sickness, transplant rejection
2.1.4. Pathology
Marked enlargement of all four cardiac chambers is typical of DCM, although
sometimes the disease is limited to the left or right side of the heart. The thickness of the
ventricular walls may be increased, but chamber dilatation is out of proportion to any
concentric hypertrophy. Microscopically, there is evidence of myocyte degeneration with
irregular hypertrophy and atrophy of myofibers. Interstitial and perivascular fibrosis is often
extensive.1
2.1.5. Pathophysiology1
The hallmark of DCM is ventricular dilatation with decreased contractile function.
Most often in DCM, both ventricles are impaired, but sometimes dysfunction is limited to the
LV and even less commonly to the RV. As ventricular stroke volume and cardiac output
decline because of impaired myocyte contractility, two compensatory effects are activated:
(1) the Frank-Starling mechanism, in which the elevated entricular diastolic olume increases
the stretch of the myofibers, thereby increasing the subsequent stroke volume; and (2)
neurohormonal activation, initially mediated by the sympathetic nervous system. The latter
contributes to an increased heart rate and contractility, which help to buffer the fall in cardiac
output. These compensations may render the patient asymptomatic during the early stages of
ventricular dysfunction; however, as progressive myocyte degeneration and volume overload
ensue, clinical sympoms of heart failure develop.
With a persistent reduction of cardiac output, the decline in renal blood flow prompts
the kidneys to secrete increased amount of renin. This activation of renin-angiotensin-

aldosterone axis increases peripheral vascular resistance and intravascular volume. However,
the compensatory effects of neurohormonal activation prove detrimental. Arteriolar
vasoconstriction and increased systemic resistance render it more difficult for the LV to eject
blood in the forward direction, and the rise in intravascular volume further burdens the
ventricles, resulting in pulmonary and systemic congestion. In addition, chronically elevated
levels of angiotensin II and aldosterone directly contribute to pathological myocardial
remodeling and fibrosis.
As the cardiomyopathic process causes the ventricles to enlarge over time, the mitral
and tricuspid valves may fail to coapt properly in systolic and valvular regurgitation ensues.
This regurgitation has three detrimental consequences: (1) excessive volume and pressure
loads are placed on the atria, causing them to dilate, often leading to atrial fibrillation; (2)
regurgitation of blood into the left atrium further decreases forward stroke volume into the
aorta and systemic circulation; and (3) when the regurgitant volume returns to the LV during
each diastole, an even greater volume load is presented to the dilated LV.
2.1.6. Diagnosis
1. Clinical Findings
The clinical manifestations of DCM are those of CHF. The most common
symptoms of low forward cardiac output include fatigue, lightheadedness, and
exertional dyspnea associated with decreased tissue perfusion. Pulmonary
congestion results in dyspnea, orthopnea, and paroxysmal nocturnal dyspnea,
whereas chronic systemic venous congestion causes ascites and peripheral edema.
Because these symptoms may develop insidously, the patient may complain only
of recent weight gain (because of interstitial edema) and shortness of breath on
exertion.1
2. Physical Examination
Signs of decreased cardiac output are often present and include cool
extremities (owing to peripheral vasoconstriction), low arterial pressure, and
tachycardia. Pulmonary venous congestion results in auscultatory crackles (rales),
and basilar chest dullness to percussion may be present because of pleural
effusions. Cardiac examination shows an enlarged heart with leftward
displacement of a diffuse apical impulse. On auscultation, a third hear sound (S 3)
is common as a sign of poor systolic function. The murmur of mitral valve
regurgitation is often present as a resukt of the significant LV dilatation. If right

ventricular heart failure has developed, signs of systemic venous congestion may
include jugular vein distention, hepatomegaly, ascites, and peripheral edema.
Right ventricular enlargement and contractile dysfunction are often accompanied
by the murmur of tricuspid valve regurgitation.1
3. Diagnostic Studies
The chest radiograph shows an enlarged cardiac silhoutte. If heart failure has
developed, then pulmonary vascular redistribution, interstitial and alveolar edema,
and pleural effusions are evident. The electrocardiogram usually demonstrates
atrial and ventricular enlargement. Conduction defects occur in most cases.
Diffuse repolarization abnormalities are common.1
Echocardiography is very useful in the diagnosis of DCM. It typically
demonstrates four-chamber cardiac enlargement with little hypertrophy and global
reduction of systolic contractile function. Mitral and/or tricuspid regurgitation is
also frequently visualized.1,4
2.1.7. Treatment
The goal of therapy in DCM is to relieve symptoms, prevent complications, and
improve long-term survival.1
1. Medical Treatment of Heart Failure
Initial therapy typically includes salt restriction and diuretics, vasodilator
therapy with an ACE-i or ARB, and a -blocker. In patients with advanced heart
failure, the potassium sparing diuretic spironolactone should be considered.1
2. Prevention and Treatment of Arrhythmias
Studies have shown that available antiarrhythmic drugs do not prevent death
from ventricular arrhythmias in DCM. In fact, when used in patients with poor LV
function, many antiarrhythmic drugs may worsen the rhythm disturbance.
Amiodarone is the contemporary antiarrhythmic studied most extensively in
patients with DCM.1
3. Prevention of Thromboembolic Events
Patients with DCM are at increased risk of thromboembolic complications for
reasons that include: (1) stasis in the ventricles resulting from poor systolic
function, (2) stasis in the atria due to chamber enlargement or atrial fibrillation,
and (3) venous stasis because of poor circulatory flow.
The only definite indications for systemic anticoagulation in DCM patients are
atrial fibrillation, a prvious thromboembolic event, or an intracardiac thrombus

visualized by echocardiography. However, chronic oral anticoagulation therapy

(i.e. warfarin) is often administered to DCM patients who have severe depression
of ventricular function (e.g. LVEF < 30%) to prevent thromboembolism.1
4. Cardiac Transplantation
In suitable patients, cardiac transplantation offers a substantially better 5 year
prognosis than the standard therapies for DCM previously described.1
2.1.8. Prognosis
Up to one third of patients will experience spontaneous improvement of heart function
after the diagnosis of DCM is made. However, the prognosis for patients with persistent
DCM who do not undergo cardiac transplantation is poor-the average 5-year survival rate is <
50%. Methods to reduce progressive LV dysfunction by early intervention in asymptomatic
or minimally symptomatic patients, and the prevention of sudden cardiac death, remain major
research goals in the management of this disorder.1
2.2.

Congestive Heart Failure

2.2.1. Definition
Heart failure is a condition where the heart is unable to pump blood forward at a
sufficient rate to meet the metabolic demands of the body (forward failure), or is able to do so
only if the cardiac filling pressures are abnormally high (backward failure), or both. 1
Congestive heart failure refers to a clinical state of systemic and pulmonary congestion
resulting from the inability of the heart to pump as much blood as required for the adequate
metabolism of the body. The clinical picture of congestive heart failure results from a
combination of relatively low output and compensatory responses to increase it.8
2.2.2. Epidemiology
Recently collected data from all pediatric cardiac centers in UK and Ireland in 2003
shows incidence of new onset heart failure was 0.87 per 100,000 population less than 16
years of age, with the highest incidence occur in the first year of life. More than half of the
cases were due to dilated cardiomyopathy.9 Congenital heart disease is the most common
causative factor of heart failure during infancy. Older children with heart failure are more
likely to have acquired heart disease, cardiomyopathies, and arrhythmias.10
2.2.3. Etiology

The causes of heart failure in children differ substantially from those found in the
adult population and are comprised to cardiac and noncardiac causes. Today,
cardiomyopathies are the most common cause of heart failure in children with a structurally
normal heart.9
Table 2.1

Cardiovascular Causes of Heart Failure in Children

Congenital Cardiac Malformations

Volume Overload
Left-to-right shunting

Structurally Normal Heart

Primary Cardiomyopathy
Dilated

Ventricular septal defect

Hypertrophic

Patent ductus arteriosus

Restrictive

Atrioventricular

or

semilunar

valve

insufficiency
Aortic regurgitation in bicommissural
aortic valve
Pulmonary regurgitation after repair
of tetralogy of Fallot
Pressure Overload
Left-sided obstruction

Secondary

Severe aortic stenosis

Arrhythmogenic

Aortic coarctation

Ischemic

Right-sided obstruction

Toxic

Severe pulmonary stenosis

Complex Congenital Heart Disease

Infiltrative
Infectious

Single ventricle
Hypoplastic left heart syndrome
Unbalanced

atrioventricular

septal

defect
Systemic right ventricle
L-transposition of the great arteries
2.2.4. Clasification
The ACCF/AHA stages of heart failure recognize that both risk factors and
abnormalities of cardiac structure are associated with heart failure.3
Table 2.2

The ACCF/AHA Stages of Heart Failure

Stage
s
A
B
C
D

Description
At high risk of HF but without structural heart disease or symptoms of HF
Structural heart disease but without signs and symptoms of HF
Structural heart disease with prior or current symptoms of HF
Refractory HF requiring specialized interventions
The NYHA functional classification gauges the severity of symptoms in those with

structural heart disease.3

Table 2.3

NYHA Classification of Heart Failure

Class
I

Definition
No limitation of physical activity. Ordinary physical activity does not cause

II

symptoms of HF.
Slight limitation of physical activity. Comfortable at rest, but ordinary physical

III

activity results in symptoms of HF.

Marked limitation of physical activity. Comfortable at rest, but less than ordinary

IV

activity causes symptoms of HF.

Unable to carry on any physical activity without symptoms of HF, or symptoms of
HF at rest.

2.2.5. Pathophysiology9
The pathophysiology of heart failure caused by structural malformations has much in
common with adult heart failure, but there are also significant differences related to etiology
and age at presentation.
1. Volume Overload
Significant left-to-right shunting can cause congestive heart failure symptoms despite
normal systolic ventricular function. The most common example is a large ventricular
septal defect. After birth, as fetal myocytes attain adult form, muscle fiber length
increases and ventricular compliance improves. This means that the LV can contract more
forcefully to maintain systemic cardiac output compensating for the increased shunting of
blood from the left to the RV during systole that occurs as pulmonary vascular resistance
falls in the first 3 months of life. The appearance of heart failure symptoms coincides with
this transition from the fetal to the neonatal circulation. The increased pulmonary blood
flow, coupled with the greater permeability of the neonatal pulmonary vasculature, causes
pulmonary edema, leading to tachypnea. Tachypnea and the increased left ventricular
work impose a metabolic tax that is difficult for the infant to pay. Feeding requires

caloric expenditure because of the work of sucking, and is further compromised because
tachypnea interrupts feeding.
Elevations of the neurohormonal and inflammatory mediators that characterize adult
heart failure such as renin, aldosterone, norepinephrine, brain natriuretic peptide (BNP),
N-terminal prohormone BNP, and tumor necrosis factor- receptor have been
demonstrated in children with volume overload lesions. Activation of these and other
factors may help explain symptoms previously ascribed solely to hemodynamic
alterations.
2. Pressure Overload
The most common LV pressure overload lesion is congenital AS. AS exhibits a
spectrum of obstruction, and can cause heart failure symptoms at the severe end of the
spectrum, even in fetal life. Although LV output is decreased, combined ventricular
output is usually normal because of the ability of the RV to compensate independently in
the parallel fetal circulation. In extreme cases, subendocardial ischemia and severe
myocardial dysfunction can occur, leading to hydrops fetalis.
After birth, with the transition from the parallel to the series circulation, the RV can
no longer compensate for the LV to sustain cardiac output, peripheral perfusion becomes
inadequate, and metabolic acidemia ensues. Ongoing subendocardial ischemia may lead
to further LV dilation and dysfunction, and cardiogenic shock.
3. Complex Malformations
Complex malformations often combine volume and pressure overload characteristics,
and both systemic and pulmonary circulations can be affected. Cyanosis is often present,
with attendant risk of subendocardial ischemia contributing to impaired ventricular
performance. The molecular abnormalities, often in transcription factors, that lead to
congenital structural abnormalities have also been associated with abnormal myocardial
performance and arrhythmias, which can increase the likelihood of heart failure.
2.2.6. Diagnosis
1. Symptoms and Signs
Heart failure can be diagnosed if the patient presents with 2 major or 1 major and 2
minor of the Framingham criteria.11
Table 2.4
Framingham Criteria for Congestive Heart Failure11
Major Criteria

Minor Criteria

10

Paroxysmal

nocturnal

dyspnea

or Ankle edema
Night cough
Dyspnea on exertion
Hepatomegaly
Pleural effusion
Vital capacity decreased 1/3 from maximum
Tachycardia (rate of > 120x/min)

orthopnea
Neck-vein distention
Rales
Cardiomegaly
Acute pulmonary edema
S3 gallop
Increased venous pressure > 16cm of water
Hepatojugular reflux
Weight loss > 4.5kg in 5 days in response
to treatment

2. Chest X-Ray
A chest x-ray is of limited use in the diagnostic work-up of patients with suspected
HF. It is probably most useful in identifying an alternative, pulmonary explanation for a
patients symptoms and signs. It may, however, show pulmonary venous congestion or
edema in a patient with HF. It is important to note that significant LV systolic dysfunction
may be present without cardiomegaly on the chest x-ray.12
3. Routine Laboratory Tests
In addition to standard biochemical and haematological tests, it is useful to measure
thyroid-stimulating hormone (thyrotropin) as thyroid disease can mimic or aggravate HF.
Blood glucose is also worth measuring as undiagnosed diabetes is common in patients
with HF. Liver enzymes may also be abnormal in HF (important in considering
amiodarone or warfarin).12
4. Electrocardiogram and echocardiogram
The echocardiogram and electrocardiogram are the most useful tests in patients with
suspected HF. The echocardiogram provides immediate information on chamber volumes,
ventricular systolic and diastolic function, wall thickness, and valve function. This
information is crucial in determining appropriate treatment (e.g. an ACE-i and -blocker
for systolic dysfunction or surgery for aortic stenosis).
The electrocardiogram shows the heart rhythm and electrical conduction, i.e. whether
there is sinoatrial disease, AV block, or abnormal intraventricular conduction. These
findings are also important for decisions about treatment (e.g. rate control and
anticoagulation for AF, pacing for bradycardia, or CRT if the patient has LBBB). The

11

electrocardiogram may also show evidence of LVH or Q waes, giving a possible clue to
the etiology of HF.12
2.2.7. Treatment
The treatment of CHF includes treatment of the cause, management of the
precipitating event, and control of the congested state. Treatment of congested state is aimed
at reducing the pulmonary or systemic congestion (diuretics), reducing the disproportionately
elevated afterload (vasodilators including ACE inhibitors), and increasing contractility
(inotropes). Rapid digitalization (over 24 hours) using digoxin with a total dose of 30-40
micrograms/kg body weight orally (IV doses 75% of the oral dose) should be escorted in
term infants and children with severe CHF, but avoided in patients with myocarditis.
Diuretics, such as 1 mg/kg of furosemide, afford quick relief in pulmonary and systemic
congestion. It is important to monitor body weight, blood urea, serum electrolytes (at least
twice weekly initially). Potassium supplementation is usually not required with < 2mg/kg of
furosemide. A daily supplementation of 1-1.5 mEq/kg of potassium may be required if there
is a significant hypokalemia.8
Several trials in adults with CHF have shown that ACE inhibitors prolong life and
improve QoL. These drugs are now more commonly used in paediatric practice. In children
with left to right shunt, ACE inhibitor have been found useful with large shunts or in those
with elevated systemic vascular resistance.8

12

CHAPTER III
CASE REPORT
3.1 Objective
The objective of this paper is to report a case of 10 years old girl with a diagnosis of
Thalassemia Major + Moderate Mitral Regurgitation + Mitral Prolapse.
3.2 Case
VR, a 10 years old girl, with 10 kg of BW and 118 cm of BH, is a new patient of noninfection unit in PediatricDepartment in Central Public Hospital Haji Adam Malik Medan on
May 5th 2015 at 17.30. Her chiefcomplaint was pale.
History of disease:
VR, a girl, 10 years old, came to Haji Adam Malik Hospital at May, 5 th 2015 with pale
as the chief complaint. The pale symptom have been experienced by patient since a month
ago, and become paler in recent week. The patient has no history of spontaneous bleeding,
nosebleed, melena, and fever. Urination and defecation of the patient within normal limits.
History of previous illness: The patient is an old patient of Hematology Unit with
Thalassemia and got routine transfusions.
History of medication: Vitamins : C 1x1 tab, E 1x1 tab; Folic acid 1x1 tab; Exjade 2x1 tab.
History of family: No family history of thalassemia and other diseases.

13

History of parents medication: unclear

History of pregnancy:The gestation age was 36 weeks. No history of complication, neonate
and maternal problem.
History

of

birth:

Birth

assisted

by

midwife

spontaneously.

The

baby

was

bornparavaginalandshecried immediately. Bluish was not found. Body

weight 3500 gram, body length 50 cm, and head circumference wasnot
measured.
History of feeding:6 months of breast feeding, additional food since 7 months old.
History of immunization: BCG, Polio 4 times, Hepatitis B 3 times, DPT 3 times, and
Measles.
History of growth and development: Face down: 4 months old, Sit down: 6 months old,
Crawl: 8 months old, Stand up: 10 months old, Walk:
13 months old, Talk: 12 months old.
Physical Examination:

Present status: Level of consciousness: compos mentis, GSC 15 (E4V6M5). Body

temperature: 36.4C, BP: 90/50 mmHg, HR: 110 bpm, RR: 26 bpm, BW: 20 kg, BH:
118 cm, BW/A: %, BL/A: %, BW/BL: % (), anemic (+/+), icteric (-), dyspnea (-),

cyanosis (-), edema (-).

Localized status:
Head
: Eyes: Light reflex +/+, isochoric pupil,
pale was found in inferior conjunctiva palpebral.
Ears: within normal range
Nose: within normal range
Mouth: within normal range

Neck
Thorax

: Lymph node enlargement (-)

: Symmetrical fusiform, retraction (-), Cor S1,S2reguler
HR: 111bpm, regular, murmur (-)
RR: 26bpm, regular, wheezing (-/-), rales (-/-)

Abdomen : Supple, normal peristaltic, liver was palpated3 cm below the right

costal arches and spleen was palpable (Schuffner II).

Extremities : pulse 111 bpm regular, p/v adequate, warm acral, CRT < 3,

clubbing finger(-).
Working diagnosis
: Thalassemia Major
Laboratory finding

Complete blood analysis (May 5th, 2015)

14

Test
Result
Unit
Referral
Hemoglobin
5.30
g%
12.0-14.4
Erythrocyte
2.29
106/mm3
4.40-4.48
3
3
Leucocyte
12.98
10 /mm
4.5-13.5
Thrombocyte
157
103/mm3
150-450
Hematocrite
17.30
%
37-41
Eosinophil
2.40
%
1-6
Basophil
1.200
%
0-1
Neutrophil
46.20
%
37-80
Lymphocyte
42.40
%
20-40
Monocyte
7.80
%
2-8
3
Neutrophil absolute
6.00
10 /L
2.4-7.3
Lymphocyte absolute
5.51
103/L
1.7-5.1
Monocyte absolute
1.01
103/L
0.2-0.6
3
Eosinophyl absolute
0.31
10 /L
0.10-0.30
Basophyl absolute
0.15
103/L
0-0.1
MCV
75.50
fL
81-95
MCH
23.10
Pg
25-29
MCHC
30.60
g%
29-31
RDW
26.40
%
11.6-14.8
Morphology: Erythrocyte: Hypochromic microsite, Anisopoikilocytosis (Basophilic
stippling, target cells).
Leukocyte:

normal

Trombocyte: normal
Clinical Chemistry
Test
Carbohydrate Metabolism
Blood Glucose
Electrolite
Natrium
Kalium
Cloride
Other Test

Result

Unit

Referral

119.00

mg/dL

< 200

131
3.8
107

mEq/L
mEq/L
mEq/L

135-155
3.6-5.5
96-106

Hemostatic function (Nov 4th, 2014)

Ferritin

: 1852.00 ng/mL

(Normal: Adult=15-300; Child=15-240)

Fe/Iron

: 36 mg/dL

(Normal: 61-157)

TIBC

: 104 g/dL

(Normal: 112-346)

Immunoserology (Nov 4th, 2014)

Immunophenotyping (Nov 4th, 2014)

HbsAg

: negative

CD4 %: 36

(N: 31-60)

Anti Hbs

: negative

CD4 Absolut: 824 Cell/uL

(N: 410-1590)

15

Anti HCV
Therapy

: positive
:

1. Exjade 2x1 tab

2. Vit.C 1x1 tab
3. Vit.E 1x1 tab
4. Folic acid 1x1 mg
5. Calorie needed = RDA x Ideal body weight
= 3000 kkal
Calorie needed 50% of total calorie needed = 1500 kkal
Diet 1500 kkal such as :
Breakfast = 20% . 1500 kkal KH = 300 kkal = 75 gr
Snack = 10% . 1500 kkal KH = 150 kkal = 37,5 gr
Lunch = 25% . 1500 kkal KH = 375 kkal = 93,7 gr
Snack = 10% . 1500 kkal KH = 150 kkal = 37,5 gr
Dinner = 25% . 1500 kkal KH = 375 kkal = 93,7 gr
Snack = 10% . 1500 kkal KH = 150 kkal = 37,5 gr

Planning Assesment:
- Echocardiography
- Hand bone age
- PRC Transfusion = PRC needed = (Hb target Hb actual) x Constants x BW
= (12 5,3) x 4 x 20 = 536 cc 540 cc
PRC capability = 20 x 5 cc = 100 cc

16

3.3 Follow Up
May 6th 2015
S
O

Pale(+)
Sensorium: Compos Mentis, Temp: 36,7oC.
Head :
-

Eye : light refleks (+/+), isochoric pupil, pale was found in inferior

conjunctiva palpebral(+/+)
Ear : within normal range
Nose : within normal range
Mouth : pale mucous +/+

Thorax : symmetrical fusiform, retraction (-)

-

HR: 111 bpm, reguler, murmur (-)

RR : 26 bpm, reguler, wheezing (-/-), rhonchi (-/-)
Abdominal : supple, peristaltic (+)N, liver was palpated 3 cm below the right
costal arches and spleen was palpable (Schuffner II)

A
P

Extremities : pulse 111 bpm, reguler, p/v adequate, warm acral, CRT < 3
Thalassemia Mayor
Exjade 2x1 tab
Vit C 1x1 tab
Vit E 1x1 tab
Folic acid 1x1 tab
R/ Transfusion
R/ Echocardiography
May 7th 2015

S
O

Pale(+)
Sensorium: Compos Mentis, Temp: 36,7oC.
Head :
-

Eye : light refleks (+/+), isochoric pupil, pale was found in inferior

conjunctiva palpebral(+/+)
Ear : within normal range
Nose : within normal range
Mouth : pale mucous +/+

Thorax : symmetrical fusiform, retraction (-)

-

HR: 110 bpm, reguler, murmur (-)

RR : 26 bpm, reguler, wheezing (-/-)
Abdominal : supple, peristaltic (+)N, liver was palpated 3 cm below the right
costal arches and spleen was palpable (Schuffner II)

Extremities : pulse 110 bpm, reguler, p/v adequate, warm acral, CRT < 3

17

A
P

Thalassemia Mayor
Exjade 2x1 tab
Vit C 1x1 tab
Vit E 1x1 tab
Folic acid 1x1 tab
Echocardiography
Mitral Valve Prolapse; Moderate MR
Hand bone age (Left manus)
Retarded girls [norm. range bone age: 8-12 y.o.; actual bone age: 7 years 10 months]

18

May 8th 2015

S
O

Pale(+)
Sensorium: Compos Mentis, Temp: 36,7oC.
Head :
-

Eye : light refleks (+/+), isochoric pupil, pale was found in inferior

conjunctiva palpebral(+/+)
Ear : within normal range
Nose : within normal range
Mouth : pale mucous +/+

Thorax : symmetrical fusiform, retraction (-)

-

HR: 110 bpm, reguler, murmur (-)

RR : 26 bpm, reguler, wheezing (-/-)
Abdominal : supple, peristaltic (+)N, liver was palpated 3 cm below the right
costal arches and spleen was palpable (Schuffner II)

A
P

Extremities : pulse 110 bpm, reguler, p/v adequate, warm acral, CRT < 3
Thalassemia Mayor + Moderate MR + Mitral Valve Prolaps
Exjade 2x1 tab
Vit C 1x1 tab
Vit E 1x1 tab
Folic acid 1x1 tab

19

May 9th 2015

S
O

Pale (-)
Sensorium: Compos Mentis, Temp: 37oC, BW: 20 kg,
Head :
-

Eye : light refleks (+/+), isochoric pupil, pale inferior conjungtiva palpebra

(+/+)
Ear : within normal range
Nose : within normal range
Mouth :within normal range
Thorax : symmetrical fusiform, retraction (-)
HR: 92 bpm, reguler, murmur (-)
RR : 22 bpm, reguler, wheezing (-/-)
Abdominal : supple, peristaltic (+)N,liver was palpated 3 cm below the
right costal arches and spleen was palpable (Schuffner II)

A
P

Extremities : pulse 92 bpm, reguler, p/v adequate, warm acral, CRT < 3
Thalassemia Mayor + Moderate MR + Mitral Valve Prolaps
Exjade 2x1 tab
Vit C 1x1 tab
Vit E 1x1 tab
Folic acid 1x1 tab
Laboratory finding (May 9th 2015)
Hb/Ht/L/T = 13/4.94/8.51/39
MCV/MCH/MCHC/RDW = 78.9/26.5/33.6/21.0
Difftel = N/L/M/E/B = 35.4/49.1/10.2/4.2/1.10
R/outpatient (May 9th 2015)

20

CHAPTER IV
DISCUSSION
Case
Theory
Patient doesnt have family history of Thalassemia is a genetic disorder which is
thalassemia. The possible outcome is both inherited in autosomal recessive form.
parents are carriers of -thalassemia.
Patient was admitted to the hospital with a Thalassemia is a disease with a decreased or
chief complaint history of pale and absent production of globin. This can make
dizziness.

Hb down. As a result; anaemia, pale, and

dizziness can be found.

Patient laboratory findings are:

Thalassemia major is characterized by

Hb : 5.30

reduced

Erythrocyte : 2.29

corpuscular volume (MCV) > 50 < 70 fl and

Ht : 17.30

mean corpuscolar Hb (MCH) > 12< 20 pg.

MCV : 75.50

RBC indices show microcytic anemia.

Affected individuals show RBC morphologic

MCH : 23.10

changes

MCHC : 30.60

level

(<7g/dL),

[microcytosis,

mean

hypochromia,

anisocytosis, poikilocytosis (spiculated tear-

RDW : 26.40

drop and elongated cells)], and nucleated

Morphology :
Erythrocyte

Hb

Hypochromic

microsite,

RBC (i.e., erythroblasts).

Anisopoikilocytosis (Basophilic stippling,

target cells)
Patients treatment
therapy

(PRC

were

transfusion Treatment for patients with thalassemia

needed=540cc,

PRC major includes chronic transfusion therapy,

capability=100cc), iron chelation (Exjade), iron

and supportives (vitC, vit.E, folic acid).

chelation,

hematopoietic

splenectomy,

allogeneic

transplantation,

and

supportive measures.
Patients hand bone age:
(May 6th, 2015)

Patients with thalassemia major are affected

by growth disorders (30%).
Normal bone age:

21

Interpretation: Retarded girl

The prognosis of this patient depends on
the

patient's

treatment

adherence
programs,

to

long-term

namely

the

hypertransfusion program and lifelong iron

The prognosis of patients with thalassemia

major is highly dependent on the patient's
adherence to long-term treatment programs,
namely the hypertransfusion program and

chelation.

lifelong iron chelation.

Laboratory findings on Nov 4th, 2014
shows high ferritin serum (1852.00 ng/mL)
which indicated increasing iron depotion.

The major causes of morbidity and mortality

in beta thalassemia are anemia and iron
overload.

The other results which work on the Increased iron deposition resulting from
prognosis (May 6th, 2015):

lifelong transfusions and enhanced iron

Echocardiography

absorption

Mitral Valve Prolapse; Moderate MR

overload. This overload causes clinical

Hand bone age (Left manus)

problems similar to those observed with

Retarded girl

primary hemochromatosis (eg, endocrine

dysfunction,
dysfunction).

CHAPTER V

results

liver

in

secondary

dysfunction,

iron

cardiac

22

SUMMARY

23

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