This document provides an overview of congenital heart diseases, including their definition, prevalence, etiology, clinical manifestations, diagnosis, and descriptions of specific conditions. The main points are: - Congenital heart disease is a structural, functional, or positional defect of the heart present at birth. The most common types are VSD, PDA, ASD, PS, AS, CoA, TOF, and TGA. - Causes include chromosomal abnormalities, adverse maternal conditions, and multifactorial inheritance, though many cases have unknown causes. - Clinical manifestations depend on age but may include feeding difficulties, rapid respiration, lethargy, and signs of congestive heart failure.

1. Over view of CongenitalOver view of Congenital
Heart Diseases and theirHeart Diseases and their
Clinical ManifestationsClinical Manifestations
Dr . Prince Pius , M.D ,(Gen MedDr . Prince Pius , M.D ,(Gen Med((
Prof of Medicine KGMCHProf of Medicine KGMCH

2. Congenital heart diseaseCongenital heart disease
DefinitionDefinition
Structural , Functional orStructural , Functional or
Positional defect of the heart inPositional defect of the heart in
isolation or combination present fromisolation or combination present from
birth but may manifest at any timebirth but may manifest at any time
after birth or may not manifest at allafter birth or may not manifest at all
8 to 10/1000 alive new born8 to 10/1000 alive new born
85% cases are due to VSD , PDA ,85% cases are due to VSD , PDA ,
ASD , PS , AS , CoA , TOF , TGAASD , PS , AS , CoA , TOF , TGA

4. EtiologyEtiology
Multifactorial inheritance patternMultifactorial inheritance pattern ““mostlymostly””
 Chromosomal abnormalityChromosomal abnormality (5-10%).(5-10%).
-Trisomy 21 (50%) > A-V canal,VSD,ASD, others.-Trisomy 21 (50%) > A-V canal,VSD,ASD, others.
-Trisomy 18 (80%)> VSD,ASD,others.-Trisomy 18 (80%)> VSD,ASD,others.
-Trisomy 13 (40%)> VSD,ASD,PDA,others.-Trisomy 13 (40%)> VSD,ASD,PDA,others.
-Turner syndrome (xo)>Bicuspid aortic valve and co-ao-Turner syndrome (xo)>Bicuspid aortic valve and co-ao
-others.-others.

5.  Adverse maternal conditionsAdverse maternal conditions
(enviromential)(enviromential)
--MaternalMaternal infectionsinfections >Rubella:>Rubella:PDA,PSPDA,PS
--Maternal diseasesMaternal diseases > PKU-> PKU-VSD,ASDVSD,ASD
DM:DM:left septal hypertrophyleft septal hypertrophy
--DrugsDrugs >fetal hydntoin syndrome->fetal hydntoin syndrome- VSDVSD
ValproateValproate effect-co ao left heart hypoplasiaeffect-co ao left heart hypoplasia
--Fetal alcohol syndromeFetal alcohol syndrome >> VSD,ASDVSD,ASD,,CO-AO.CO-AO.
-Advance maternal age.-Advance maternal age.

6. Majority of cases of theMajority of cases of the
congenital heart diseasescongenital heart diseases
are unknown causeare unknown cause

15. PrevalencePrevalence
 CyanoticCyanotic: 22%: 22%
 AcyanoticAcyanotic: 68%: 68%
– VSDVSD 25%25%
– ASDASD 6%6%
– PDAPDA 6%6%
– TOFTOF 5%5%
– PSPS 5%5%
– ASAS 5%5%
Ceylon Med J 2001 Sep; 46 (3(: 96-8; Indian J Pediatr. 2001 Aug;68 (8(:757-7
Nelson’s Textbook of pediatrics; 17 ed.

16. HistoryHistory
Age of the patient.Age of the patient.
Ask forAsk for
--Feeding difficultiesFeeding difficulties
-Vomiting-Vomiting
-Lethargy-Lethargy
-Increased perspiration-Increased perspiration
-Rapid respiration-Rapid respiration
-Hypoactivity-Hypoactivity
All may be manifestation of congestive heart failure.All may be manifestation of congestive heart failure.
Neonate
Infant

17. --History of dysnea on exertion.History of dysnea on exertion.
-Shortness of breathing.-Shortness of breathing.
-Orthopnea.-Orthopnea.
-Lower limbs swelling-Lower limbs swelling
-Palpitation.-Palpitation.
-Convulsion.-Convulsion.
-All may be manifest of congestive heart failure.-All may be manifest of congestive heart failure.
Older child

18. DiagnosisDiagnosis
Early diagnosis of C.H.D mean betterEarly diagnosis of C.H.D mean better
results.results.
40% of C.H.D diagnosed at 140% of C.H.D diagnosed at 1stst
w of life.w of life.
50-60 % diagnosed at 150-60 % diagnosed at 1stst
two months .two months .
Others are usually later during routineOthers are usually later during routine
medical examination.medical examination.
Diagnosis depend on good clinical history +Diagnosis depend on good clinical history +
good medical examination andgood medical examination and
investigations.investigations.

27. Acquired VSDAcquired VSD
Intra ventricular rupture in acute MIIntra ventricular rupture in acute MI
OrOr
Rarely from traumaRarely from trauma

29. ATRIAL SEPTAL DEFECTATRIAL SEPTAL DEFECT

51. COARCTATION OFCOARCTATION OF
AORTAAORTA

58. AORTIC STENOSISAORTIC STENOSIS

67. PULMONARY STENOSISPULMONARY STENOSIS

72. TERATOLOGY OFTERATOLOGY OF
FALLOTFALLOT

83. TRANSPOSITION OF GREATTRANSPOSITION OF GREAT
ARTERIESARTERIES

86. CONGENITALLY CORRECTED
TRANSPOSITION OF GREAT
ARTERIES

89. TRUNCUS ARTERIOSUSTRUNCUS ARTERIOSUS

92. TRICUSPID ATRESIA

95. PULMONARY ATRESIA

98. EBSTEIN’S ANOMALYEBSTEIN’S ANOMALY

109. OTHER CONGENITAL
LESIONS
Aortic root to right heart shunts
-Congenital aneurysm of an aortic sinus of
valsalva with fistula
-Anomalous origin of the left coronary artery
from the pulmonary trunk
-Coronary AV fistula