7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 1/25

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 2/25

Department of BIOLOGY

This is to certify that Riya Mandal,  a

student of class 12 B has successfully

completed this project during the

academic year 2015-16 unde

Mrs G B!arat!i  for practical exam

conducted by "I##$% &e' Del!i

#i(nat)re of e*ternal e*aminer si(nat)re of +iolo(y tea!er

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 3/25

  "$&O.L%DG%M%&/In the accomplishment of this projec

successfully, many people have bestowed upon m

their blessings and hearty support, I would like t

thank all the people concerned with this project.

Firstly, I would like to thank God for thsuccessful completion of this project. Then I woul

like to thank our respected Principal for providin

us with all the lab facilities to complete ou

project. I would also like to thank rs. G.!harath

our biology teacher for her valuable guidance ansupport.

"ast but not least I would like to thank m

parents and classmates for their help and suppor

whenever re#uired.

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 4/25

I&D% $%R/II$"/% "$&O.L%DG%M%&/ I&/ROD$/IO& #IG&# "&D #YM3/OM# $"#%#

DI"G&O#I# $L"##II$"/IO&  /R%"/M%&/ BIBLIOGR"34Y

 

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 5/25

INTRODUCTION

Congenital heart defect (CD!" also #no$n aa congenital heart anomaly or congenital heardisease" is a problem in the structure of the heart thais present at birth% &igns and symptoms depend o

the speci'c type of problem% &ymptoms can ary fromnone to life threatening% )hen present they mainclude rapid breathing" bluish s#in" poor $eight gainand feeling tired% It does not cause chest pain% *oscongenital heart problems do not occur $ith othediseases% Complications that can result from heardefects include heart failure%

The cause of a congenital heart defect is ofteun#no$n% Certain cases may be due to infectionduring pregnancy such as rubella" use of certaimedications or drugs such as alcohol or tobaccoparents being closely related" or poor nutritionastatus or obesity in the mother% aing a parent $ita congenital heart defect is also a ris# factor%

number of genetic conditions are associated $itheart defects including Do$n syndrome" Turnesyndrome" and *arfan syndrome% Congenital heardefects are diided into t$o main groups, cyanotiheart defects and non-cyanotic heart defectsdepending on $hether the child has the potential tturn bluish in color% The problems may inole th

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 6/25

interior $alls of the heart" the heart ales" or thlarge blood essels that lead to and from the heart%

Congenital heart defects are partly preentablthrough rubella accination" the adding of iodine tsalt" and the adding of acid to certain food products&ome defects do not need treatment% Other may be.ectiely treated $ith procedures or heart surgery

Occasionally a number of operations may bneeded% Occasionally heart transplantation ire/uired% )ith appropriate treatment outcomes" ee$ith complex problems" are generally good%

eart defects are the most common birth defect% I0123 they $ere present in 34%3 million peoplglobally% They a.ect bet$een 4 and 56 per 2"111 li

births depending upon ho$ they are diagnosed% +bou7 to 28 per 2"111 cause a moderate to seere degreof problems% Congenital heart defects are the leadincause of birth defect-related deaths% In 0123 theresulted in 303"111 deaths do$n from 377"111 deathin 2881%

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 7/25

 

o$ the ealthy eart)or#s

The normal heart is a strong" hard-$or#ing pummade of muscle tissue% It9s about the si:e of person9s 'st

 The heart has four chambers% The upper t$

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 8/25

chambers are the atria" and the lo$er t$o are thentricles (;igure +!% The chambers are separated ba $all of tissue called the septum% <lood is pumpethrough the chambers" aided by four heart ales% Thales open and close to let the blood =o$ in only ondirection%

Congenital defects may inole a ale" a chamberthe septum" an artery or blood =o$ issues%

The four heart ales are,

2% The tricuspid ale" located bet$een the righatrium and the right entricle>

0% The pulmonary (pulmonic! ale" bet$een the righentricle and the pulmonary artery>

3% The mitral ale" bet$een the left atrium and lefentricle> and

4% The aortic ale" bet$een the left entricle anthe aorta%

?ach ale has a set of @=aps@ (also called lea=etsor cusps!% The mitral ale normally has t$o =aps> theothers hae three%

ealthy heart blood =o$ patterns

The normal blood =o$ is a cycle that =o$s li#e this

- - -

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 9/25

Next $e $ill loo# at each step%

;rom the body to the heart,  ;igure < belo$ sho$dar# bluish blood" lo$ in oxygen" =o$ing bac# to thheart after circulating through the body% It returns tthe heart through eins and enters the right atrium

This chamber empties blood through the tricuspiale (<! into the right entricle%

;rom the heart to the lungs, The right entricle pumpthe blood under lo$ pressure through the pulmonar

ale into the pulmonary artery% ;rom there the bloogoes to the lungs $here it gets fresh oxygen (C!%

;rom the lungs to the heart,  +fter the blood irefreshed $ith oxygen" it9s bright red% Then it returnto the left heart through the pulmonary eins to thleft atrium% ;rom there it passes through the mitraale (D! and enters the left entricle%

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 10/25

 

;rom the heart to the body ,  The left entricle pumpthe red oxygen-rich blood out through the aortic alinto the aorta (?!% The aorta ta#es blood to the body9general circulation% The blood pressure in the lefentricle is the same as the pressure measured in tharm%

&IBN& +ND &*TO*&

Di(ital l)++in( 'it! yanoti nail +eds in an ad)lt 'it! tetra lo(y of allot

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 11/25

&igns and symptoms are related to type and seeritof the heart defect% &ymptoms fre/uently are presenearly in life" but it is possible for some CDs to gundetected throughout life% &ome children hae n

signs $hile others may exhibit shortness obreath" cyanosis" fainting" heart murmur" undedeelopment of limbs and muscles" poor feeding ogro$th" or respiratory infections% Congenital heardefects cause abnormal heart structure resulting iproduction of certain sounds called heart murmuThese can sometimes be detected by auscultationho$eer" not all heart murmurs are caused bcongenital heart defects%

+&&OCI+T?D &*TO*&

Congenital heart defects are associated $ith aincreased incidence of some other symptoms" togethe

being called the E+CT?RA association,

 

E F Eertebral anomalies

• + F +nal +rtesia

 

C F Cardioascular anomalies

 

T F Tracheoesophageal 'stula

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 12/25

 

? F ?sophageal +rtesia

 

R F Renal (Gidney! andHor radial anomalies

 

A F Aimb defects

Eentricular septal defect (E&D!" atrial septal defectsand tetralogy of ;allot are the most commocongenital heart defects seen in the E+CT?Rassociation% Aess common defects in the associatioare truncus arteriosus and transposition of the greaarteries%

Causes

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 13/25

The cause of congenital heart disease may be eithergenetic or enironmental" but is usually a combination

of both%

B?N?TIC

*ost of the #no$n causes of congenital heardisease are sporadic genetic changes" either focamutations or deletion or addition of segments oDN+% Aarge chromosomal abnormalities sucas trisomies 02" 23" and 2 cause about 6JK of caseof CD% )ith trisomy 02 being the most commogenetic cause% &mall  chromosomal abnormalities als

fre/uently lead to congenital heart disease" anexamples include microdeletion of the long armof chromosome 00 (00/22" DiBeorge syndrome!" thlong arm of chromosome 2 (2/02!" the short armof chromosome (p03! and many other" lesrecurrent regions of the genome" as sho$n by higresolution genome-$ide screening (+rray comparatigenomic hybridi:ation!%

The genes regulating the complex deelopmentase/uence hae only been partly elucidated% &omgenes are associated $ith speci'c defects% + numbeof genes hae been associated $ith cardiamanifestations% *utations of a heart muscle protein" Lmyosin heay chain (*7! are associated $ith atria

septal defects%  &eeral proteins that interact $it*7 are also associated $ith cardiac defects% Thtranscription factor B+T+4 forms a complex $itthe T<M6 $hich interacts $ith *7% +nother factothe home box (deelopmental! gene" NGM0-6 alsinteracts $ith *7% *utations of all these proteinare associated $ith both atrial and entricular septal

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 14/25

defects> In addition" NGM0-6 is associated $ith defectin the electrical conduction of the heart and T<M6 irelated to the olt-Oram syndrome $hich includeelectrical conduction defects and abnormalities of thupper limb% +nother T-box gene" T<M2" is inoled ielo-cardio-facial syndrome DiBeorge syndrome" th

most common deletion $hich has extensie symptomincluding defects of the cardiac out=o$ tracincluding tetralogy of ;allot%

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 15/25

?xamples of gene products and associatedfeatures

*7B+T+

4NGM0

-6T<M6 T<M2

Aocus24/22

%0-/23

p03%2-p00

6/34 20/04%2 00/22%0

&yndromeolt-Oram

DiBeorge

+trial septaldefects

Eentricularseptaldefects

?lectricalconductionabnormalitie

s

Out=o$ tractabnormalities

Non-cardiacmanifestatio

Upperlimb

&mall orabsent thymu

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 16/25

nsabnormalities

s

&mall orabsentparathyroid

;acial

abnormalities

 

The notch signaling path$ay" a regulatory mechanismfor cell gro$th and di.erentiation" plays broad roles i

seeral aspects of cardiac deelopment% Notcelements are inoled in determination of the righand left sides of the body plan" so the directionafolding of the heart tube can be impacted% Notcsignaling is inoled early in the formation of thendocardial cushions and continues to be actie as thdeelop into the septa and ales% It is also inoled i

the deelopment of the entricular $all and thconnection of the out=o$ tract to the great essels*utations in the gene for one of the notcligands" Jagged1" are identi'ed in the majority oexamined cases of arteriohepatic dysplasia (+lagillsyndrome!" characteri:ed by defects of the greaessels (pulmonary artery stenosis!" heart (tetralogof ;allot in 23K of cases!" lier" eyes" face" and bonesThough less than 2K of all cases" $here no defects arfound in the Jagged1 gene" defects are founin Notch2 gene% In 21K of cases" no mutation is founin either gene% ;or another member of the gene familymutations in the Notch1 gene are associate$ith bicuspid aortic ale"  a ale $ith t$o lea=etinstead of three% Notch1 is also associated $it

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 17/25

calci'cation of the aortic ale" the third moscommon cause of heart disease in adults%

*utations of a cell regulatory mechanism" the Ras*+G   path$ay are responsible for a ariety osyndromes" including Noonan syndrome" A?O+R

syndrome" Costellosyndrome and cardiofaciocutaneous syndrome i$hich there is cardiac inolement% )hile thconditions listed are #no$n genetic causes" there arli#ely many other genes $hich are more subtle% It i#no$n that the ris# for congenital heart defects ihigher $hen there is a close relatie $ith one%

?NEIRON*?NT+A

Gno$n enironmental factors include certaiinfections during pregnancy such as Rubella" drug(alcohol" hydantoin" lithium and thalidomide! anmaternal illness (diabetes mellitus" phenyl#etonuriaand systemic lupus erythematosus!%

<eing oer$eight or obese increases the ris# ocongenital heart disease% +dditionally" as maternaobesity increases" the ris# of heart defects alsincreases% + distinct physiological mechanism has nobeen identi'ed to explain the lin# bet$een maternaobesity and CD" but both prepregnancy folatde'ciency and diabetes hae been implicated in somstudies%

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 18/25

Diagnosis

*any congenital heart defects can be diagnoseprenatally by fetal echocardiography%  This is a tes$hich can be done during the second trimester opregnancy" $hen the $oman is about 2J04 $ee#

pregnant% It can be an abdominaultrasound or transaginal ultrasound%

If a baby is born $ith cyanotic heart diseasethe diagnosis is usually made shortly after birth due tthe blue colour of their s#in (called cyanosis!%

If a baby is born $ith a septal defect or a

obstruction defect" often their symptoms are onl

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 19/25

noticeable after seeral months or sometimes eeafter many years%

 

CA+&&I;IC+TION

+ number of classi'cation systems exist fo

congenital heart defects% In 0111 the InternationaCongenital eart &urgery Nomenclature $adeeloped to proide a generic classi'cation system%

OA+&I+

ypoplasia can a.ect the heart" typically resulting ithe underdeelopment of the right entricle or the lef

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 20/25

entricle% This causes only one side of the heart to bcapable of pumping blood to the bodand lungs e.ectiely% ypoplasia of the heart is rarbut is the most serious form of CD% It icalled hypoplastic left heart syndrome $hen it a.ectthe left side of the heart and hypoplastic right hearsyndrome $hen it a.ects the right side of the heart% Iboth conditions" the presence of a patent ductuarteriosus (and" $hen hypoplasia a.ects the right sidof the heart" a patent foramen oale!  is ital to thinfant9s ability to surie until emergency hearsurgery can be performed" since $ithout thespath$ays blood cannot circulate to the body (or lungs

depending on $hich side of the heart is defectieypoplasia of the heart is generally a cyanotic heardefect%

O<&TRUCTION D?;?CT&

Obstruction defects occur $hen heart alesarteries" or eins are abnormally narro$ or bloc#ed

Common defects include pulmonic stenosis" aortistenosis" and coarctation of the aorta" $ith othetypes such as bicuspid aortic ale stenosis ansubaortic stenosis being comparatiely rare% +nnarro$ing or bloc#age can cause heart enlargement ohypertension%

&?T+A D?;?CT&

The septum is a $all of tissue $hich separatethe left heart from the right heart% Defects ithe interatrial septum or the interentricula

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 21/25

septum allo$ blood to =o$ from the right side of thheart to the left" reducing the hearteciency% Eentricular septal defects are collectielthe most common type of CD" althougapproximately 31K of adults hae a type of atriaseptal defect called probe patent foramen oale%

C+NOTIC D?;?CT&

Cyanotic heart defects are called such becausthey result in cyanosis" a bluish-grey discoloration othe s#in due to a lac# of oxygen in the body% &ucdefects include persistent truncus arteriosus" totaanomalous pulmonary enous connection" tetralogy o;allot" transposition of the great essels" and tricuspiatresia%

D?;?CT& +ORTIC &T?NO&I&

 

+trial septal defect (+&D!

 

+trioentricular septal defect (+E&D!

 

<icuspid aortic ale

 

Dextrocardia

 

Double inlet left entricle (DIAE!

 

Double outlet right entricle (DORE!

 

?bstein9s anomaly

 

ypoplastic left heart syndrome (A&!

 

ypoplastic right heart syndrome (R&!

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 22/25

 

*itral stenosis

 

ulmonary atresia

 

ulmonary stenosis

 

Transposition of the great essels

 

dextro-Transposition of the great arteries (d-

TB+!

 

leo-Transposition of the great arteries (l-TB+!

 

Tricuspid atresia

 

ersistent truncus arteriosus

 

Eentricular septal defect (E&D!

 

)ol.-ar#inson-)hite syndrome ())!

&ome conditions a.ect the great essels or otheressels in close proximity to the heart" but not theheart itself" but are often classi'ed as congenital heardefects%

 

Coarctation of the aorta (Co+!

 

Interrupted aortic arch (I++!

 

atent ductus arteriosus (D+!

 

&cimitar syndrome (&&!

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 23/25

 

artial anomalous pulmonary enousconnection (+EC!

 

Total anomalous pulmonary enousconnection (T+EC!

&ome constellations of multiple defects are commonlyfound together%

 

tetralogy of ;allot (To;!

 

pentalogy of Cantrell

 

&hone9s syndromeH &hone9s complex H &hone9s

anomaly

TR?+T*?NT

&ometimes CD improes $ithout treatment% Othedefects are so small that they do not re/uire antreatment% *ost of the time CD is serious and re/uire

surgery andHor medications%  *edications includdiuretics" $hich aid the body in eliminating $ater" saltsand digoxin for strengthening the contraction of thheart% This slo$s the heartbeat and remoes some =uifrom tissues% &ome defects re/uire surgical procedures trestore circulation bac# to normal and in some casesmultiple surgeries are needed%

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 24/25

Interentional cardiology no$ o.ers patientminimally inasie alternaties to surgery for sompatients%  The *elody Transcatheter ulmonary Eal(TE!" approed in ?urope in 0117 and in the U%&% in 012under a umanitarian Deice ?xemption (D?!" designed to treat congenital heart disease patients $ith

dysfunctional conduit in their right entricular out=o$tract (REOT!% The REOT is the connection bet$een thheart and lungs> once blood reaches the lungs" it enriched $ith oxygen before being pumped to the rest othe body% Transcatheter pulmonary ale technologproides a less-inasie means to extend the life of failed REOT conduit and is designed to allo$ physicians tdelier a replacement pulmonary ale ia a cathete

through the patientPs blood essels%

*O&T +TI?NT& R?QUIR? AI;?AONB &?CI+AI?D

C+RDI+C C+R?" ;IR&T )IT + ?DI+TRICC+RDIOAOBI&T +ND A+T?R )IT +N +DUAT

CONB?NIT+A C+RDIOAOBI&T% T?R? +R? *OR? T+N2% *IAAION +DUAT& AIEINB )IT CONB?NIT+A ?+RT

D?;?CT&%

BIBLIOGR"34Y

Internet 'e+sites!ttpsen'i7ipediaor('i7i$on(enital8!eart8defet!ttp''''e+mdom!eart-diseaseon(enital-!eart-disease Goo(le ima(es

7/23/2019 Bio Investigatory project.docx

http://slidepdf.com/reader/full/bio-investigatory-projectdocx 25/25

no'led(e of Biolo(y tea!er 3ro+es of Biolo(y La+oratory %nylopedia