CHF Ec Dilated Cardiomyopathy

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

ii

TABLE OF CONTENTS

COVER............................................................................................................ i

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

CHAPTER I INTRODUCTION................................................................... 1

CHAPTER II LITERATURE REVIEW...................................................... 2

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. Congestive Heart Failure................................................................ 6

2.2.1. Definition............................................................................ 6

2.2.2. Epidemiology...................................................................... 7

2.2.3. Etiology............................................................................... 7

2.2.4. Classification...................................................................... 8

2.2.5. Pathophysiology................................................................. 9

2.2.6. Diagnosis............................................................................ 10

2.2.7. Treatment............................................................................ 11

CHAPTER III CASE REPORT.................................................................... 18

3.1 Objective........................................................................................ 18

3.2 Case................................................................................................ 18

3.3 Follow Up...................................................................................... 22

CHAPTER IV DISCUSSION........................................................................ 26

CHAPTER V SUMMARY............................................................................. 28

REFERENCES............................................................................................... 29

1

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

2

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)

3

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

4

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),

5

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 (S3)

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 β-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.

6

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

7

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 Structurally Normal Heart

Volume Overload

Left-to-right shunting

Ventricular septal defect

Patent ductus arteriosus

Atrioventricular or semilunar valve

insufficiency

Aortic regurgitation in bicommissural

aortic valve

Pulmonary regurgitation after repair

of tetralogy of Fallot

Primary Cardiomyopathy

Dilated

Hypertrophic

Restrictive

Pressure Overload

Left-sided obstruction

Severe aortic stenosis

Aortic coarctation

Right-sided obstruction

Secondary

Arrhythmogenic

Ischemic

Toxic

8

Severe pulmonary stenosis Infiltrative

InfectiousComplex Congenital Heart Disease

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

Description

A At high risk of HF but without structural heart disease or symptoms of HF

B Structural heart disease but without signs and symptoms of HF

C Structural heart disease with prior or current symptoms of HF

D 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 Definition

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

symptoms of HF.

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

activity results in symptoms of HF.

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

activity causes symptoms of HF.

IV Unable to carry on any physical activity without symptoms of HF, or symptoms of

HF at rest.

9

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-α 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

10

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

Paroxysmal nocturnal dyspnea or

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

Ankle edema

Night cough

Dyspnea on exertion

Hepatomegaly

Pleural effusion

Vital capacity decreased 1/3 from maximum

Tachycardia (rate of > 120x/min)

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

patient’s symptoms and signs. It may, however, show pulmonary venous congestion or

11

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 β-

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

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

12

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

13

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 non-

infection 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.

History of parent’s 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:

14

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

temperature: 36.4°C, 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 : Lymph node enlargement (-)

Thorax : 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)

Test Result Unit Referral

Hemoglobin 5.30 g% 12.0-14.4

Erythrocyte 2.29 106/mm3 4.40-4.48

Leucocyte 12.98 103/mm3 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

Neutrophil absolute 6.00 103/µL 2.4-7.3

Lymphocyte absolute 5.51 103/µL 1.7-5.1

15

Monocyte absolute 1.01 103/µL 0.2-0.6

Eosinophyl absolute 0.31 103/µL 0.10-0.30

Basophyl absolute 0.15 103/µL 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 Result Unit Referral

Carbohydrate Metabolism

Blood Glucose 119.00 mg/dL < 200

Electrolite

Natrium 131 mEq/L 135-155

Kalium 3.8 mEq/L 3.6-5.5

Cloride 107 mEq/L 96-106

Other Test

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)

Anti HCV : positive

Therapy : 1. Exjade 2x1 tab

2. Vit.C 1x1 tab

16

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


Dinner = 25% . 1500 kkal KH = 375 kkal = 93,7 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

17

3.3 Follow Up

May 6th 2015

S Pale(+)

O 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)

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

A Thalassemia β Mayor

P Exjade 2x1 tab

Vit C 1x1 tab

Vit E 1x1 tab

Folic acid 1x1 tab

R/ Transfusion

R/ Echocardiography

18

May 7th 2015

S Pale(+)↓


Head :








- RR : 26 bpm, reguler, wheezing (-/-)




A Thalassemia β Mayor

P 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]

19

May 8th 2015

S Pale(+)↓


Head :












A Thalassemia β Mayor + Moderate MR + Mitral Valve Prolaps

P Exjade 2x1 tab

Vit C 1x1 tab

Vit E 1x1 tab

Folic acid 1x1 tab

20

May 9th 2015

S Pale (-)

O Sensorium: Compos Mentis, Temp: 37oC, BW: 20 kg,

Head :

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

(+/+)



- Mouth :within normal range

- Thorax : symmetrical fusiform, retraction (-)



- Abdominal : supple, peristaltic (+)N,liver was palpated 3 cm below the right



A Thalassemia β Mayor + Moderate MR + Mitral Valve Prolaps

P Exjade 2x1 tab

Vit C 1x1 tab

Vit E 1x1 tab

Folic acid 1x1 tab

Laboratory finding (May 9 th 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)

21

CHAPTER IV

DISCUSSION

Case Theory

Patient doesn’t have family history of

thalassemia. The possible outcome is both

parents are carriers of -thalassemia.

Thalassemia is a genetic disorder which is

inherited in autosomal recessive form.

Patient was admitted to the hospital with a

chief complaint history of pale and dizziness.

Thalassemia is a disease with a decreased or

absent production of globin. This can make Hb

down. As a result; anaemia, pale, and

dizziness can be found.

Patient laboratory findings are:

Hb : 5.30

Erythrocyte : 2.29

Ht : 17.30

MCV : 75.50

MCH : 23.10

MCHC : 30.60

RDW : 26.40

Morphology :

Erythrocyte : Hypochromic microsite,

Anisopoikilocytosis (Basophilic stippling,

target cells)

Thalassemia major is characterized by reduced

Hb level (<7g/dL), mean corpuscular volume

(MCV) > 50 < 70 fl and mean corpuscolar Hb

(MCH) > 12< 20 pg. RBC indices show

microcytic anemia.

Affected individuals show RBC morphologic

changes [microcytosis, hypochromia,

anisocytosis, poikilocytosis (spiculated tear-

drop and elongated cells)], and nucleated RBC

(i.e., erythroblasts).

Patient’s treatment were transfusion therapy

(PRC needed=540cc, PRC

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

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

Treatment for patients with thalassemia major

includes chronic transfusion therapy, iron

chelation, splenectomy, allogeneic

hematopoietic transplantation, and supportive

measures.

Patient’s hand bone age:

(May 6th, 2015)

Patients with thalassemia major are affected by

growth disorders (30%).

Normal bone age:

22

Interpretation: Retarded girl

The prognosis of this patient depends on the

patient's adherence to long-term treatment

programs, namely the hypertransfusion

program and lifelong iron chelation.

Laboratory findings on Nov 4th, 2014 shows

high ferritin serum (1852.00 ng/mL) which

indicated increasing iron depotion.

The other results which work on the

prognosis (May 6th, 2015):

Echocardiography

Mitral Valve Prolapse; Moderate MR

Hand bone age (Left manus)

Retarded girl

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

lifelong iron chelation.

The major causes of morbidity and mortality in

beta thalassemia are anemia and iron overload.

Increased iron deposition resulting from

lifelong transfusions and enhanced iron

absorption results in secondary iron overload.

This overload causes clinical problems similar

to those observed with primary

hemochromatosis (eg, endocrine dysfunction,

liver dysfunction, cardiac dysfunction).

CHAPTER V

SUMMARY

23

REFERENCES

1. Lilly, L.S., 2007. Pathophysiology of Heart Disease: A Collaborative Project of Medical Students

and Faculty. Fourth Edition. Baltimore –Philadelpia: Lippincott Williams & Wilkins.

2. Bernstein, D., 2011. The Cardiovascular System. In: Kliegman, R.M., Stanton, B.F., St.

Geme III, J.W., Schor, N.F.(eds.), Nelson Textbook of Pediatrics. Nineteenth Edition. United

States of America: Elsevier.

3. Yancy, C.W., Jessup, M., Bozkurt, B., Butler, J., Casey D.E. Jr., et al., 2013. 2013

ACCF/AHA Guideline for The Management of Heart Failure: A Report of The American

College of Cardiology Foundation/American Heart Association Task Force on Practice

Guidelines. Circulation. 2013;128:e240–e327.

4. Thomas, D.E., Wheeler, R., Yousef, Z.R., Masani, N.D., 2009. The Role of

Echocardiography in Guiding Management in Dilated Cardiomyopathy. European Journal of

Echocardiography. 2009;10:iii5-iii21.

5. Caforio, A.L.P., Bottaro, S., Iliceto, S., 2012. Dilated Cardiomyopathy (DCM) and

Myocarditis: Classification, Clinical and Autoimmune Features. Applied Cardiopulmonary

Pathophysiology. 2012;16:82-95.

6. Maron, B.J., Towbin, J.A., Thiene, G., Antzelevitch, C., Corrado, D., et al., 2006.

Contemporary Definitions and Classification of the Cardiomyopathies.Circulation.

2006;113:1807-1816.

7. Dilated Cardiomyopathy. Available from: http://emedicine.medscape.com/article/152696-

overview. Accessed 30 June 2015.

8. Sharma, L.C.M., Nair, C.M.N.G., Jatana, C.S.K, Shahi, L.G.B.N., 2003. Congestive Heart

Failure in Infants and Children. MJAFI. 59;3:228-233.

9. Hsu, D.T., Pearson, G.D., 2009. Heart Failure in Children: Part I: History, Etiology, and

Pathophysiology. Circ Heart Fail.2009;2:63-70.

10. Maasin, M.M., Astadicko, I., Dessy, H., 2008. Epidemiology of Heart Failure in a Tertiary

Pediatric Center. Clin Cardiol. 31;8:388-91.

11. Marantz, P.R., Tobin, J.N., Wassertheil-Smoller, S., Steingart, R., Wexler, J.P., et al., 1988.

The Relationship Between Left Ventricular Systolic Function and Congestive Heart Failure

Diagnosed by Clinical Criteria. Circulation. 1988;3:607-612.

http://emedicine.medscape.com/article/152696-overview

http://emedicine.medscape.com/article/152696-overview

24

12. McMurray, J.J.V., Adamopoulus, S., Anker, S.D., Aurrichio, A., Bohm, M., et al., 2012. ESC

Guidelines for The Diagnosis and Treatment of Acute and Chronic Heart Failure 2012.

European Heart Journal. 2012;33:1787-1847.

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