1
BOGOMOLETS NATIONAL MEDICAL UNIVERSITY
DEPARTMENT OF PEDIATRICS №2
The Head of department: Corresponding member of NAMS of Ukraine,
Doctor of Medicine, Professor,
Honorary Scientist and Technician of Ukraine
Volosovets O.P.
Teacher: Assistant professorGrishchenkoNatalia
Clinical base: Kyiv City Clinical Children’s Hospital № 2
Curator (surname, name, course, group №):
Rawat, Saumya, 4th , 8652
The curation's data : 30-10-2021
CASE HISTORY
Name and surname of the patient- Jeff Bezos
Age: 0 year(s) 10 months
Date of hospitalization 15-10-2021
Diagnosis:
Basic- Endocardial Fibroelastosis
Complication(s)- Congestive Heart Failure 2nd degree
Concomitant diagnoses
Complaints at the moment of curation
dyspnea
anxiety
fatigue
nausea
peripheral cyanosis
pallor
edema of legs and abdomen
excessive sweating
failure to thrive
fever
Medical history
1. Date of the onset of disease - congenital disease
2
2. The first complaints-fatigue, palpitation,difficult feeding, wheezing sounds, dyspnea
3.Dynamics of the disease- rare congenital disease affects 1-2 in 100000 child
( mainly in 4-12 months infant )
4. Treatment received before and its effectiveness- symptomatic treatment beta blockers and
antianginal.the treatment was fairly effective if used continuously
5. Complaints at hospitalizationPallor
Peripheral cyanosis
Fever
Dyspnea
Fatigue
edema of leg
venous distention
wheezing
6. Results of inpatient treatment (at the moment of curation)symptomatic treatment- relief during respiration, edema is reduced, skin color returned to
normal
Patient anamnesis: (points 1-4 - only for children under 3 yo)
1. Characteristics of the antenatal period - full term baby (39 weeks). mother had AVRI
during the first trimester of pregnancy. Endocardial fibroelastosis is detected during routine
ultrasonography
2. Birth weight and length of the body -weight= 2700 gram : height=30cm
3. The pathology of the neonatal period - none
4. Character of feeding during the first year of life- breastfeeding( baby gets tired and rests
regularly in the course of sucking.)
5. Prophylactic immunizations (name all vaccination which child has) -BCG, HepB,
OPV,DTP,IPV,HIB, Rota V, HPV, MMR
6. Illnesses, which the patient has had (including infectious) - common cold, flu.
7. Chronic diseases (specify at what age the child is ill) Endocardial fibroelastosis(EFE)
Allergic anamnesis- none
Family anamnesis- mother is affected by AVRI in her first trimester
Epidemiological anamnesis- none
Objective status:
3
1. Assessing nutritional status
weight- 8000 gram height-50cm (BMI-for-age) -1 ( slow growth) (use table z-score, add to
end of case report. See standard tables http://www.who.int/growthref/who2007_bmi_for_age/en )
Conclusion- slow development
2. General examination - skin pallor, peripheral cyanosis,fever, breathlessness, excessive
sweating, tachypnea, dyspnea, venous distention
Estimation degree of status severity (name the syndromes which cause severity) - congestive heart
failure 2nd degree
3. Body temperature-38℃
4. The characteristic of the skin, visible mucous membranes, lymph nodes- pallor skin with
peripheral cyanosis, swelling in abdomen and legs
5. The condition of internal systems
Borders of the heart- dilated (cardiomegaly), stiff, hypertrophic
Auscultation-irregular pulse( arrhythmia), gallop rhythm, the pansystolic murmur of the
atrioventricular valve regurgitation
HR 160 bit\min
RR-50/min
Lungs percussion- dull percussion sounds are heard
Lungs auscultation-bubbling and moist rales during expiration
Abdomen- ascites ( swelling in abdomen)
Liver - hepatomegaly
Spleen- mild splenomegaly
Endocrine system- increased angiotensin II
Sexual development(by Tanner puberty classification) -Sexual maturity not reached yet
Psycho-neurological status- normal
child can sit on its own,and able to stand with support but not able to walk ,speaks some
sounds ,able to grasp toy
6. The characteristics of excrements, urinary excretion - normal
7. Additional data - edema of legs, venous distention, high blood pressure
The results of additional investigations (with conclusion):
1.Clinical blood test
4
D
a
t
a
RBC
3.5 T/L
Hb
CI
M
C
H
C
M P WB
C L C
V
Ban
ded
Seg
m
eos
Lym
ph
10 0.7 32 7
0
8
3 12 3%
47
1% 43
0 G/
%
%
0 L
G
/
L
Conclusion: light stage anemia, leukocytosis ( lymphocytosis)
mon
ERS Clo Bleed
t
time/sta
tim rts-endin
g
e
6%
5
4
2 min
mm mi
/hr n
2. Biochemical investigation
Da-t
a
Tot
al
Biliub
10 10u
u mol
m /l
ol/
L
Data
Di-re
ct
Indirect
ALAT
3um 7um 0.5u
ol/l ol/l mol/
h/l
K
Na
Ca
Fe
mmo 4.5
l/L
140
2.75 62
um
ol/l
ASAT
0.33
umol/
h/l
Tym
ol
test
Colest
Total
Protein
Albu
-min
α1
α2
65
g/l
1.8
/l
3g/l
70
g/l
55
%
3 7
% %
β
γ K
1 2 %
2 3 4
%
.
3
m
m
o
l
/
l
TIBC Glucose Glycosylated Urine Creatinin TTG T3
T4
Hb
285
4mmol/l 4%
4
0.06mmol 2U/m 1.18 95
ug/dl
mmol /l
l
mm nmo
/l
ol/l l/l
Conclusion: normal
3. Clinical urine test - unnecessary
Conclusion - normal
3. Feces test- normal
bacterial investigation- normal
4. X-ray examination of the chest (conclusion)
● Cardiomegaly- left ventricular hypertrophy most prominent.
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● The shape of the cardiac silhouette varies, although it is often globular.
● Pulmonary venous congestion is common.
●
5. Abdominal ultrasound- hepatomegaly and mild splenomegaly due to congestive heart
failure
6. Other investigations ● fetal echocardiography
● CT scan
● MRI
8. The results of the consultations of doctors-experts (conclusion)- Endocardial fibroelastosis
with complication of congestive heart failure of 2nd degree.
Examinations and consultations which YOU could recommend to carry out to confirm
your diagnosis:
●
●
●
●
Twenty-four–hour Holter electrocardiography (ECG)
Electrocardiography
Angiography
Biopsy
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Differential diagnosis: list diseases having common symptoms: cardiomyopathies - dilated
cardiomyopathy(barth syndrome)
Congenital Malformations(aortic stenosis,hypoplastic left heart syndrome)
Viral myocarditis
3. Differential-diagnostic table
How do it see Appendix №1
№
1
2
Typical signs
Complains:
fever
cough
physical activity
dyspnea
diaphoresis
Objective
examination
Differentiating diseases (syndromes)
cardiomyopathy
viral myocarditis
mild
present
decreased
present
present
Signs of hypoxia
(eg, cyanosis,
clubbing)
Jugular venous
distension (JVD)
Pulmonary edema
(crackles and/or
wheezes)
S3 gallop
Enlarged liver
Peripheral edema
3
Lab
CBC
4
additional
lymphocytosis and
neutropenia
Comprehensive
metabolic panel
Thyroid function tests
Iron studies
Cardiac biomarkers
B-type natriuretic
peptide assay
Chest radiography
mild
may be present
lethargy
present
absent
Your patient signs
mild
no
decreased
present
present
The apical beat is
dull percussion
tachypnea
during
weakened, the
borders of the heart feeding and grunting
respirations with
are moderately
subcostal or
broadened, the
intercostal
tachycardia appears,
retractions have
the first sound over been reported. Fine
the apex is muted,
expiratory wheezes
the gallop rhythm is or rales in the lung
possible as well as
bases are common.
tachycardia,
pan systolic murmur
bradycardia,
tachyarrhythmia or
bradyarrhythmia
lymphocytosis
lymphocytosis
and antibodies to
viral antigens
serum electrolyte
PCR
Sedimentation rate
and C-reactive
protein
– Nonspecific
inflammation
markers; they are
usually elevated
levels
Blood urea nitrogen
(BUN) and
creatinine levels
Complete blood cell
(CBC) count
Complete metabolic
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Echocardiography
Cardiac magnetic
resonance imaging
(MRI) with gadolinium
Electrocardiography
(ECG)
Endocardial biopsy
Cardiac catherization
Viral titers - A 4-fold
increase
Creatinine
kinase–MB
isoenzymes,
troponin and LDH 1
(CK-MB) - Markers
of myocardial
damage; they are
elevate
profile
Blood culture tests
indicated for
management of
acute episodes
Autoantibody profile
including anti-Ro
and anti-La
Brain natriuretic
peptide
How do it see Appendix №1
Conclusion- most of the symptoms and results of diagnostic methods suggests endocardial
fibroelastosis
Substantiation of the diagnosis (basic, complications)
●
●
●
●
●
●
●
●
●
Intracardiac thrombus precipitated by LV dysfunction and arrhythmia
Severe mitral regurge due to direct valvular involvement or chronic LV dysfunction
Thromboembolism leading to stroke, pulmonary embolism, and systemic embolization
Myocardial infarction either from ischemia or thromboembolism
Arrhythmias due to the involvement of the cardiac conduction system
Congestive heart failure and cardiogenic shock
Right heart involvement leading to pulmonary hypertension
Hydrops fetalis presumably due to intrauterine cardiac failure
Sudden cardiac death
Recommended treatment:
1. Regimen: general, bed cure (underline what is necessary).
2. Diet (general diet or specify recommendations on special diet (specify necessary food
stuffs or restrictions) - no specific restrictions.
Diet is dictated by the underlying heart disease and degree of malnutrition
3. Preparations for intake and other medical actions (physiotherapy, inhalations, medical
massage, gymnastics etc.): -activity to the limit of tolerance
NO MEDICAL CURE IS AVAILABLE. THEREFORE TREATMENT IS ONLY
SYMPTOMATIC
№
Preparations
name (official)
for oral intake
8
Dose
per kg
Dose for
single
introduction,
way
frequency of
administration
prospective duration
of treatment
1-2 days
1
Eg.acetaminophen
(W 20kg) syrop
10mg
200 mg
t >38°
2
3
4
5
Spironolactone
catopril
2mg
0.15-0.3
14mg
1.4mg
7 mg/12hr
0.7 mg/12 hr
Hydrochlorothi
azide(thiazide
diuretic)
2.8mg
19.6 mg
10mg/12hr
5 mg
1mg
0.1 mg
35 mg
7mg
0.7 mg
15mg/12hr
3.5mg/12hr
0.35mg/12hr
6
7
8
Propranol
enoxaparin
warfarin
2-3 years
4. Injections
№
Preparations
name (official)
1
Eg. (W 20kg)
Penicilline
2
digoxin
Dose
per kg/24h
Dose for single
introduction, way
frequency of
administration
prospective duration
of treatment
100 IU/2000
700 IU
8/h
7days
30-40
14-25
8/h
2-3 years
Estimation of dynamics of disease symptoms at the end of the period of curation
(treatment in hospital):
Considerable improvement, moderate improvement, practically no changes, deterioration, transfer to other
hospital (underline what is necessary); specify the possible reason of the absence of positive changes
(deterioration) in condition of the patient if necessary
in patient treatment shows improvement and the further continuation of medicines is highly
recommended for symptomatological therapy
Recommendations for the patient at discharge, including treatment at out-patient stage:
A- restrict physical ability
B- low sodium diet
C- bed rest in acute illness phase
D-Schedule regular follow-up care until symptoms subside and cardiac size and function are
normal.
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E- Educate patients about the potential for the reappearance of symptoms if therapy is
withdrawn.
1. What are the etiological factors which have the main disease in your patient?
EFE is idiopathic in nature but can be X- linked recessive,Possible causative factors include
intrauterine viral infection (mumps, coxsackievirus B), subendocardial ischemia, impaired
lymphatic drainage of the heart, and systemic carnitine deficiency.
The possible role of maternal anti-Ro and anti-La antibodies
and it can be secondary in nature and have been seen alongside other genetic conditions such
as hypoplastic left heart syndrome, aortic stenosis, and atresia
2. Point the main pathophysiological links of the disease
The underlying pathophysiology of endocardial fibroelastosis (EFE) is believed to be
deposition of acellular fibrocartilaginous tissue in the subendothelial layer of the
endocardium predominantly involving the inflow tracts, apices of either left or both
ventricles
3.How can you explain the presence of complications in your patient and what are their
reasons?
The heart walls become stiff due to fibre deposition in myocardium which results in
decreased contractility of the heart. the blood pumping function of the heart is reduced which
causes hypoxia and thus causes insufficiency. and due to increased pressure of ventricular
chambers it leads to congestion in both smaller and greater circulation of body thus leading to
edema and enlargement of organs
4. What preventive measures for main diagnoses would you appoint?
not present till date because primary EFE is congenital and idiopathic
5.What is the influence of accompanying diseases on the course of the main diseases?
cardiac failure lead to excessive hypertrophy of heart ventricles and worsening
EFE
6. Give some suggestions of the modern treatment of the disease
● At present, surgery is only indicated in refractory cases that do not respond to medical
management. Experimental procedures such as peeling off the fibrotic and thickened
endocardium to restore compliance of the underlying myocardial tissue
● Cardiac transplantation in severe case
●
7. What is the prognosis of the disease in your patient?
the condition is not fatal, the prognosis is still relatively poor. Remissions can occur through
intensification of medical therapy.
The teacher’s remarks of the case history:
_______________________________________________________________________________________
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_______________________________________________________________________________________
_______________________________________________________________
___________________________________________________________________________
Mark __________________
Teacher ______________________ (signature)
«_____» _________________ 2021.
Appendix №1
№
1
Typical signs
Complains: fever
Cough
dyspnea
Differentiating diseases (syndromes)
Obstructive
Pneumonia
bronchitis
Fever mild
Dry to productive
expiratory
Fever severe
Dry to productive,
mixed
t-39
productive
mixed
…..
2
Anamnes
….
…..
3
Objective
examination
Timpanic sound
Etc……..
Dull sound
Etc……..
… Lab
CBC
Rh….
In patient
Dull sound
Etc……..
…
leucopenia
leucocytosis
Conclusion- most symptoms in patient consistent with the disease eg Pneumonia
leucocytosis
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