SICKLE CELL DISEASE WITH CYANOTIC CONGENTIAL HEART DISEASE: Long -term outcomes in 5 children

1. SICKLE CELL DISEASE
WITH CYANOTIC
CONGENTIAL HEART DISEASE:
Long -term outcomes in 5 children
AISHWARYA JAITLY
Msc.BIOTECHNOLOGY
Roll no.2

2. PubMed Central Canada
Texas Heart Institute Journal
Published on DECEMBER 1 2016

3. SICKLE CELL DISEASE
 RBC's Disorder, structural abnormality in haemoglobin
molecule.
 Occurs when 6th amino acid glutamic acid is replaced by valine.
 First description of sickle shaped cell is given by James Herrick
in 1917.
 And its genetics basis was discovered by Dr V. Emmel in 1917.

4. • This map showing distribution of Hbs allele, it is
also indicating yearly total number of individual
affected.

5. HbSC ;
HbSβº ;
HbSE ;
; HbSC
; HbSD
; HbSO

6. SCD is Autosomal Recessive

7. SYMPTOMS & SIGNS OF SCD
• Usually appear after 4months of age.
• Some signs are
1. VASO OCCLUSIVE: Capillaries obstruction, organ
damage, restriction of blood flow, Painful crisis.
2. APLASTIC CRISIS: Pale appearance, Fast heart rate,
Life threatening situation.
3. SPLENIC SEQUESTEIAN CRISIS: Spleen affect, Painful
enlargement of spleen, Can die within 1-2hrs die to
circulatory failure.
4.HAEMOLYTIC CRISIS : Drop in haemoglobin level.

8. DIAGNOSIS
1. SICKLE TEST
2. SOLUBILITY TEST
3. HEMOGLOBIN
ELECTROPHORESIS TEST

9. 4. SCREENING TEST FOR NEW BORNS
5. DNA ANALYSIS

10. CYANOTIC CONGENTIAL
HEART DISEASE
• A malformation of heart, aorta , or large blood vessels,
major frequent form of birth defect in new born.
• Occurs 1/125 live birth.
• Majority have no known cause.
• It can occur due to gene defect, chromosomal abnormality,
and by environmental factors.

12. METHODOLOGY
• PATIENT 1(GIRL): Prenatal diagnosis
Pulmonary atresia+ intact ventricular septum +
Coronary sinusoid
At age 6 Blalock–Taussig shunt surgery (Recovered
uneventfully with Post operative O2 saturation level 86% ,
Hemoglobin level 17.6g/dL)
At 3 moths diagnosed with HbSS (Parents have sickle trait)
Underwent transfusion , Bidirectional Glenn Procedure at
14Months (O2 saturation level 82-85%)

13. At 3.5 age ; developmental delays
MRI ; cerebrovascular accidents(CVA)
At 5 age; hydroxyurea
Therapy

14. • PATIENT 2 (GIRL): Prenatal diagnosis ;
hypoplastic heart syndrome (Postoperative O2
saturation 91%, Hb level 10.6g/dL)
At 3months; Bi-Directional Glenn Procedure
(Preoperative O2 saturation 80%)
14months HbSS disease diagnosed
(mother had SCD)
Ventricular dysfunction developed
Died suddenly at age 18 months due to
cardiac arrest.

15. • PATIENT 3(BOY); Prenatal diagnosis ; Double
inlet ventricle + hypoplastic aortic arch + coarctation
of aorta.
6th day ; Coarctation repair (Postoperative
O2 saturation 80%)
HbSC disease diagnosed 10months; Glenn Procedure;
Recovered
At age 6 Years ; cerebral MRI; Multiple watershed
2 months later; Deep vein thrombosis +
Cerebral Infraction (O2 saturation level 85%)

16. Chronic transfusion begins.
He was unsuitable
for Heart
transplantation
Died at 11

17. • PATIENT 4(BOY): 7 Years old boy tricuspid
atresia + pulmonary atresia + ventricular septum
At 3years diagnosed with HbSS
Underwent Blalock–Taussig shunt +
Bi-Directional Glenn Procedure + fontan completion
procedure
Heart Transplantation; Body rejected than
cardiac allograft vasculopathy
At 14years again heart transplantation

18. Chronic transfusion
At 16 again developed
coronary graft vasculopathy
Died at 17
During hospitalization developed
hemiparesis than cerebrovascular
accident revealed

19. • PATIENT 5 (GIRL): Postnatal diagnosis;
Pulmonary atresia + Ventricular septal defect closure+
Major aorta pulmonary collateral arteries (O2 saturation
level 80%)
Hypoxemia Progress 9,
(O2 saturation level 70%)
At 4months age HbSS
diagnosis at 12th month underwent surgery

20. Extracorporeal membrane
oxygenation support
Died at 8
Postoperative become complicated
due to cardiac arrest

21. RESULT

22. • Researchers identified 5 patients with combination of SCD
+ CHD in their institution but results were more grim.
• They have given transfusion therapy to most of patients
which maintained HbSS level and lowered risk of SCD and
stroke.
• The observations are limited due to their small study but
they warranted that in future close attention will be given to
patients having such combined disease.
• They mentioned timely diagnosis is necessary otherwise
results can be life threatening.
• They also suggested some therapies like Fontan , Shunt,
Glenn Procedure to shorten / lower their affects.

23. PREVENTION AND CURE FOR
SCD
• Effective treatment like;
Blood transfusion
Bone marrow transplantation
Gene therapy
• New medicine like ;
BUTYRIC ACID: It is a food additive that increase normal
haemoglobin in blood.
NITRIC OXIDE: People with sickle cell have low level of nitric
acid in their blood.
CLOTRIMAZOLE: It prevent loss of water from RBC and can
stop turning of cell into sickle cell.

24. What’s going on for
its AWARENESS?

25. CONDITION OF SCD IN INDIA
• In India the disease is largely undocumented thus,
there is urgent need to document the features of Indian
disease so that appropriate care may be evolved.

26. PREVENTION & CURE FOR
CHD
• In many cases, surgery is required to correct the physical
defects in the heart. When the defect is very dangerous,
the surgery may need to be performed soon after birth. In
other instances, the surgery can be delayed until the child
is older.
• If surgery is delayed, a child may be given medications to
treat the disease. Medications can help to eliminate extra
fluids from the body, get the heart pumping better, keep
blood vessels open, and regulate abnormal heart rhythms.

27. What's going on for
its AWARENESS ?

28. Situation OF CHD IN INDIA
• According to a senior surgeon
about 78,000 infants born with
CHD in India every year, due
to inadequate health care
facilities, lack of awareness.
• Cases of CHD are on rise in
our country.

30. LITTLE SICKLE CELL & CYANOTIC
CHD WARRIOR ❤️