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Case presentation
Maram Mobara
Najla is a 26y old girl
Saudi, from riyadh .
Single
Known to have B-thalassaemia major
based on Hx and Hb electrophorresis
findings
Admitted through ER with dyspnea +
fever For 3 days
HPI : dyspnea+fever for
3days
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patient was in her usual state of health when
she developed progressive dyspnea that
started with mild exertion (usual state) and
became marked even during rest over 3 days
It was associated with mild-moderate dry
cough.
No Hx of hemoptysis
Pateint gave Hx of increased body temp. for 3
days before presentation associated with
sweating. No chills/rigors. Documented in ER.
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No Hx of chest pain.
Hx of palpitation with illness but of no
specific character and not followed by
syncope.
Hx of LL edema
Hx of abdominal distention for years
Hx of mild truama induced epistaxis
About her chronic illness;
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known to have thalassaemia since she was 6m
age.
S/P spleenectomy at age of 10 y.
Since that time she is on multiple transfusion
Tx , average 2 PRBC every 50 days,
Last blood transfusion was 1m before
presentation at KFMC.
Was on SC dessferal , not complient for whole
last year.
F/O RKH,KFMC.
Systemic review
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GIS: chronic abdominal distention,
jaundice for long time, mild on & off
heartburn associated with food,
no recent change in bowel habits (12times/day),
no hx of nausea or vomiting.
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Renal: no hx of increase in freq,
dysuria, change in colour.
no Hx of polyuria, polydypsia
no Hx of heat intolerance, no hx of skin
pigmentation.
Poor weight gain
Primary amenorrhea.
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Hx of progressive generalized
boneaches, limitation of movement,
proximal weakness over last 5m,
no hx of joint swelling or change in
colour.
No hx of headache, syncope, vertigo,
seizures or numbness
PMH
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No other causes for hospital admission
No known allergies
Family hx : parents are separated
No similar illness in the family ?
Social: intermediate school
Poor socioeconomic status.
5
2
5
2
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In the ER: she was febrile 38.5
signs of Rt side HF
CXR marked cardiomegaly
ECG: sinus rhythem rate:100/min
axis: about 90
pifid p wave, PR interval 0.2
RSR pattern in V1,2
Bedside echo: Rt side dilatation,
tricuspid regurgitation
Hb 8.3 , received 1 PRBC Hb:10.2
In the ward
Looks ill, cyanotic, pale and jaundiced
 In mild-moderate respiratory distress , O2
2L/min via NC , O2 sat:93-95%, RR: 24/min
 Very small body built, much younger than
stated age, tanner stage 2
 Frontal bossing, no clubbing
 No evidence of LNP, thyroid gland impalpable
 JVP: 8cm above AOL
 VS: temp. low grade fever
PR: 90/min regular, BL.P: 110/60 mmHg
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Chest: chest deformity.
fair airentery, Bi equal vesicular
breathing, inspiratory crepitation up to
middle zone. No wheezes. Normal
percussion note
CVS: left parasternal heave, palpable
2nd heart sound
S1+ loudS2(P2)
Pansystolic murmer allover auscultation
areas more in tricuspid area
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Abdomen: marked abdominal distension
Visible lower liver border
Not tender, 8cm palpable liver below
CM, LS: 14 cm.
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MSS: waisting muscles of upper& lower limbs,
mild generalized bony tenderness.
CNS: normal higher center functions
face symmetrical with normal CNx
examination
patient can’t raise hand above head,
difficult standing
normal symmetrical tone and reflexes
power 3/5 generally, 2/5 at shoulder
and hip joints
normal sensation
Differential
Diagnosis
Investigations
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CBC:
HB 8.6
10.4
8.3
WBC10.45
102
(nucleated RBC)
RBC3.2
MCV89
MCH28
Ret.12.72
U&E
Random BS 3.9
UA
9.5
74
Htc29.4
RDW18.5
PLT224
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LFT: T.bilirubin 22
direct 11
albumin 27
Alanine AT 52
Aspartate AT 141(4)
GGT 360 (6)
globulin 50 (40)
coagulation profile
Viral screening
Iron 47 , ferritin 13627
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Bone profile
Ca corrected 1.88
2.29
inorganic phosphorus 1.69
ALP 279
PTH 7.44
TFT FT4 10.5
TSH 18.9
FSH 0.39
LH 0.65
estradiol 43.63
prolactin 231
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Departmental echo
Rt heart dilatation , Lt atrial too
RVSP 115
TR significant
Atrial Septal Defect
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Abdominal US
homogenous marked hepatomegly
no gall bldder inflammatory changes
normal kidneys
3 early morning blood C/S
7 days Urine culture result negative
 Sputum positive for MRSA
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Hospital course
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improved with course of IV lasix then
shifted to oral .
Sating well in RA
Low grade fever
IV ceftriaxone , IV vancomycin
2 days temp. 37 max
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Hematology team
complicated iron transfusion tx
Chelation Tx
dessferal pump machine
Cardiology team
case of ASD , eisenmenger syndrome
most likely fixed PHT
trial of low dose nifidipine
case of low grade fever although on IV Ab, to
role out IE
T/F blood culture
TEE to role out vegitation
Pulmonary HTN
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Definition :
mean pulmonary artery p.
> 25 mmHg at rest or
30 mmHg with exercise, as
measured by right heart catheterization
classification
Pulmonary arterial hypertension (PAH)
Idiopathic (IPAH)
Familial (FPAH)
Associated with :
Collagen vascular disease
Congenital systemic-to-pulmonary
Pulmonary hypertension with left heart disease
Pulmonary hypertension associated with lung
diseases and/or
hypoxemia
Pulmonary hypertension due to chronic thrombotic and/or
embolic disease
Miscellaneous
Intracardiac shunt
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PAH caused by pulmonary blood volume overload.
(ASD) is the most common congenital lesion in
adults after bicuspid aortic valve.
ASD often asymptomatic until adulthood,
The normal pulmonary vasculature accommodates
the increased volume of flow in patients with an
ASD by recruitment of previously unperfused
vessels.
PA pressures rise significantly if volume of
pulmonary blood flow exceeds 2.5 times baseline.
related to the degree and duration of right heart
volume overload
Here where patient develop Eisenmmenger
syndrome
Dilated cardiomyopathy
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HF and dilated cardiomyopathy are
common causes of PHT.
study of 108 patients with dilated
cardiomyopathy, 26 % had a pulmonary
artery systolic pressure above 40 mmHg,
as determined by echocardiography
Mangment of PHT
Early identification and treatment
Prior to the initiation of therapy, the severity of
the PH should be determined. (response
assessment)
Primary therapy underlying cause of the PH
anticoagulant therapy to patients with IPAHT
(sporadic or familial), or who have a high risk for
thromboembolism
diuretics be given if fluid retention is present
supplemental O2 for patients with group 3 PH /
resting or exercise hypoxemia
Advanced therapy
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Principle :
Abnormal vasoreactivity and
cell proliferation characterize PH.
This is best established among patients with group 1
PAH, but is probably true for patients with group 2, 3,
&group 4.
Most pharmacologic agents used to treat PH promote
vasodilation and are antiproliferative. These include
prostanoids (eg, epoprostenol, treprostinil, and iloprost),
endothelin receptor antagonists (eg, bosentan), and
phosphodiesterase-5 (PDE5) inhibitors (eg, sildenafil).
Calcium channel blockers (nifedipine) are also used but
have limited benefit as they are pure vasodilators without
antiproliferative effects
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prostanoids (eg, epoprostenol,
treprostinil, and iloprost),
endothelin receptor antagonists (eg,
bosentan)
phosphodiesterase-5 (PDE5) inhibitors
(eg, sildenafil).
Calcium channel blockers (nifedipine) are
also used but have limited benefit as they
are pure vasodilators without
antiproliferative effects
Vasoreactivity test
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administration of a short-acting vasodilator,
right heart catheter.
Agents commonly used include epoprostenol,
adenosine, and inhaled nitric oxide
positive if
mean pulmonary artery pressure decreases at
least 10 mmHg and to a value less than 40
mmHg,
with an increased or unchanged cardiac
output, and
minimally reduced or unchanged systemic BP.
Ca channel blockers
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achieve prolonged survival
sustained functional and hemodynamic improvement
observational study of 64 patients with IPAH that
compared
vasoreactive patients who received CCB therapy
versus
a combination group that included patients who were not
vasoreactive ,None received CCB therapy.
Five year survival was greater among patients who
received CCB therapy (94 versus 55 percent)
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This evidence is limited by the absence of randomized
trials comparing CCB therapy versus no therapy in
vasoreactive patients only
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initiated with nifedipine (30 mg/day) or
diltiazem (120 mg/day), then increased
to the maximal tolerated dose .
Systemic blood pressure, heart rate,
and oxygen saturation should be
carefully monitored during titration.
Epoprostenol
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It improves hemodynamic parameters, functional capacity,
and survival in patients with IPAH
a trial that randomly assigned 81 patients
severe (ie, NYHA class III or IV) IPAH
intravenous epoprostenol versus
standard therapy for 12 weeks .
Intravenous epoprostenol improved quality of life, mean
pulmonary arterial pressure ( -8 versus +3 percent),
pulmonary vascular resistance (-21 versus +9 percent),
and exercise capacity, as measured by a six minute walk
test (+47 versus -66 meters).
Eight patients died during the trial, all of whom were in
the standard therapy group.
Pulmonary Hypertension and bThalassemia Major:Report of a Case,
Its Treatment, and
a Review of the Literature
Tam and Farber.et,al.Amer J of Hema.81:443–
447 (2006)
Case report
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A 28-year-old man with b-thalassemia
major
Splenectomy , hepatitis C, diabetes,
and hemosiderosis
Presented with a 3-month history of
worsening dyspnea on exertion
Oxygen saturation with minimal exertion
(40 steps) on room air was 68 to 86%.
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Elevated jugular venous pressure
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Clear lungs, pulmonic tap
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Systolic ejection murmur, right
ventricular heave, and
Pulsatile liver.
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Hematocrit of 26% and ferritin was 14,000
mg/L.
TEE showed right atrial dilation, right
ventricular hypokinesis and dilation, severe
tricuspid regurgitation, and estimated right
ventricular systolic pressure of 78 mm Hg.
High resolution CT scan of the chest
no interstitial lung disease and ventilationperfusion scan was normal.
Pulmonary function testing : normal spirometry
and lung volumes with decreased diffusion
capacity.
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Serologic markers for connective tissue
disease and HIV were negative.
Cardiac catheterization confirmed the
diagnosis of pulmonary hypertension;
mean pulmonary arterial pressure was 47
mm Hg.
Liver biopsy demonstrated 4þ/4þ
hemosiderosis with micronodular
cirrhosis;
comparison
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Female
26 years
Iron overload:
ferritin 13,627
Signs of Rt HF
echo: Rt atrial,
ventricular dilatation,
left atrial dilatation,
TR, Rt vent P.of
112, ASD
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Male
28 years
Iron overload:
ferritin 14000
Signs of Rt HF
echo Rt atrial &
ventricular dilation,
severe TR, Rt
ventricular P. of 78
mm Hg
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CT chest:
PFT
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CT chest: no interstitial
lung disease &
ventilation-perfusion scan
was normal.
PFT: normal spirometry
and lung volumes with
decreased diffusion
capacity
Cardiac catheterization
confirmed the diagnosis
of PHT
Liver biopsy
demonstrated
hemosiderosis with
micronodular cirrhosis
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Continuous intravenous epoprostenol, titrated
to a dose of 12 ng/kg/min, in addition to daily
12-h intravenous infusion of desferoxamine(3g)
After 8 weeks of therapy, oxygen saturation
with ambulation on level ground was 97% on
room air.
After 5 years of continuous epoprostenol,
during which time the dosage had been
increased to 22 ng/kg/min based on symptoms
and clinical status, the patient could climb five
flights of stairs while maintaing O2 95%
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Repeat right heart catheterization after
4 years of treatment demonstrated a
mean Pulmonary A.P. of 33 mm Hg
Of note, the ferritin level decreased to
12,000 mg/L and 1700 mg/L at 8 weeks
and 5 years of therapy, respectively.
fewer blood transfusions were given
during this 5-year period.
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