PATHOPHYSIOLOGY OF CONGENITAL HEART DISEASE OBJECTIVES: At the end of the lecture students will be able to understand and describe

escribe the Pathophysiology of: Congenital heart defects Acyanotic heart diseases Cyanotic heart diseases Left to right shunts Right to left shunts CONGENITAL HEART DEFECTS Faulty embryogenesis (week 3-8) Usually MONO-morphic (i.e., SINGLE lesion) (ASD, VSD, hypoRV, hypo-LV) May not be evident until adult life (Coarctation, ASD) Overall incidence 1% of USA births INCREASED simple early detection via non invasive methods, e.g., US, MRI, CT, etc.

MAL F OR MA TION V entricular septal d efect

A trial septal d efect P ulm onarys tenosis P atent d uctusarteriosus

Incidence per Million L iv e Births 4482 1043 836 781 577 492 396 388 388 136 120

% 42 10 8 7 5 5 4 4 4 1 1

Tetralogyof Fallot
Coarctation of aorta

Atrioventricular septal d efect Aortic stenosis

Transposition of great arteries Truncus arteriosus Total anomalous pulmonary venous connection Tricuspid atresia

GENETICS Gene abnormalities in only 10% of CHD Trisomies 21, 13, 15, 18, XO Mutations of genes which encode for transcription factors TBX5 ASD,VSD NKX2.5 ASD Region of chromosome 22 important in heart development, 22q11.2 deletion conotruncus, branchial arch, face ENVIRONMENT

RUBELLA TERATOGENS CONGENITAL HEART DISEASE Congenital heart disease is often divided into two types: Cyanotic (blue discoloration caused by a relative lack of oxygen) non-cyanotic L R SHUNTS: all Ds in their names

NO cyanosis Pulmonary hypertension SIGNIFICANT pulmonary hypertension is IRREVERSIBLE R L SHUNTS: all Ts in their names CYANOSIS (i,.e., blue babies) VENOUS EMBOLI become SYSTEMIC OBSTRUCTIONS L R

ASD VSD ASVD PDA CONGENITAL HEART DISEASE Non-cyanotic: (left to right shunt) Ventricular septal defect (VSD) Atrial septal defect (ASD) Patent ductus arteriosus (PDA) Aortic stenosis Pulmonic stenosis Coarctation of aorta Atrioventricular canal (endocardial cushion defect) ASD

NOT patent foramen ovale Usually asymptomatic until adulthood SECUNDUM (90%): Defective fossa ovalis PRIMUM (5%): Next to AV valves, mitral cleft SINUS VENOSUS (5%): Next to SVC with anomalous pulmonary veins draining to SVC or RA

Sinus venosus defect: high in the septum. Ostium secundum defect: midseptum.

 Ostium primum defect: low in the septum. Pathophysiology: L-R shunt-increased flow across Rt heart-RV & PA enlargement. Clinical features: asymptomatic, slow wt gain, Diagnosis: Rt ventricular heave, systolic murmur, fixed wide split S2. ATRIAL SEPTAL DEFECT

A TR IALS EPT ALDEF E CT

VSD By far, most common CHD defect Only 30% are isolated Often with TETRALOGY of FALLOT 90% involve the membranous septum If muscular septum is involved, likely to have multiple holes SMALL ones often close spontaneously LARGE ones progress to pulmonary hypertension.

VENTRICULAR SEPTAL DEFECT Most common CHD (26%),may be single or multiple Pathophysiology: Lt-Rt shunt as long as pulmonary vascular resistance is lower than systemic resistance, if reverse shunt reverses Large defects lead to pul. hypertension-Eissenmenger syndrome. Clinical features: depend on size, asymptomatic, growth failure, recurrent LRTI, congestive heart failure, Diagnosis: pansystolic murmur, Asymptomatic if defect is small. Heart failure with dyspnea, frequent respiratory infections, and poor growth if defect is large. Pansystolic murmur maximal at the left sternal border.

PDA 90% isolated HARSH, machinery-like murmur L R, possibly R L as pulmonary hypertension approaches systemic pressure Closing the defect may be life saving Keeping it open may be life saving (Prostaglandin E1). Why? Ans: TGA, TA, TAPVC Connection between PA & descending aorta 10% of CHD Pathophysiology: Lt-Rt shunt, reverses if pulmonary resistance increases-RV enlargement. If PDA is large Eissenmenger syndrome can develop Clinical features: depend on size & direction of flow, slow growth Diagnosis: bounding pulse, continous murmur, loud S2 Murmur usually systolic, sometimes continuous, machinery Poor feeding, respiratory distress, and frequent respiratory infections in infants with heart failure

 Physical exam and echocardiography

AVSD Associated with defective, inadequate AV valves Can be partial, or COMPLETE (ALL 4 CHAMBERS FREELY COMMUNICATE) COMPLETE ATRIOVENTRICULAR CANAL

R L Tetralogy of Fallot Transposition of great arteries Truncus arteriosus Total anomalous pulmonary venous connection Tricuspid atresia

CONGENITAL HEART DISEASE Cyanotic: (right to left shunt) Tetralogy of Fallot Transposition of the great vessels Tricuspid atresia Total anomolous pulmonary venous return Truncus arteriosus Hypoplastic left heart Pulmonary atresia Some forms of total anomalous pulmonary venous return Ebsteins anomaly

R L SHUNTS TETRALOGY of FALLOT most COMMON 1) VSD, large 2) OBSTRUCTION to RV flow 3) Aorta OVERRIDES the VSD 4) RVH SURVIVAL DEPENDS on SEVERITY of SUBPULMONIC STENOSIS Can be a PINK tetrology if pulmonic obstruction is small, but the greater the obstruction, the greater is the R L shunt TETRALOGY OF FALLOT

Pulmonary stenosis VSD of the membranous portion Overriding aorta Right ventricular hypertrophy due to shunting of blood Addition of an atrial septal defect falls in the category of Pentalogy of Fallot.

Hypoxic spells and squatting.

 Cyanosis and clubbing. Addition of an atrial septal defect falls in the category of Pentalogy of Fallot. Hypoxic spells and squatting. Cyanosis and clubbing.

TGA (TRANSPOSITION of GREAT ARTERIES) NEEDS a SHUNT for survival, obviously PDA or PFO (65%), unstable shunt VSD (35%), stable shunt

RV>LV in thickness Fatal in first few months Surgical switching Aorta from right ventricle, pulmonary artery from left ventricle Cyanosis from birth, hypoxic spells sometimes present Heart failure often present Cardiac enlargement and diminished pulmonary artery segment on x-ray Anatomic communication must exist between pulmonary and systemic circulation, VSD, ASD, or PDA.

TRUNCUS ARTERIOSUS

 Single large vessel overrides the ventricular septum and distributes all the blood ejected from the heart. Large VSD is present.

TRICUSPID ATRESIA Tricuspid valve is completely absent in about 2% of newborns with congenital heart disease. Blood flows from right atrium to left atrium through foramen ovale. Early cyanosis. Hypoplastic RV Needs a shunt, ASD, VSD, or PDA High mortality.

 Total Anomalous Pulmonary Venous Connection (TAPVC) PULMONARY VEINS do NOT go into LA, but into L. innominate v. or coronary sinus Needs a PFO or a VSD HYPOPLASTIC LA Pulmonary veins do not make a direct connection with the left atrium. Blood reaches the left atrium only through an atrial septal defect or patent foramen ovale. Pulmonary congestion, tachypnea, cardiac failure, and variable cyanosis.

OBSTRUCTIVE CHD COARCTATION of aorta Pulmonary stenosis/atresia Aortic stenosis/atresia

PULMONARY STENOSIS No symptoms in mild or moderately severe lesions. Cyanosis and right-sided heart failure in patients with severe lesions. High pitched systolic ejection murmur maximal in second left interspace. Ejection click often present.

C OAR CT A TION OFAOR T A

M> F But X Osfrequentlyhave it INF ANTIL EF OR M (proxim al to PD A) (S ERIOUS ) ADUL TF ORM (C L OS EDD UCTUS , i.e., NO PD A) Bicus pidaortic v alve 50%of the tim e

AORTIC STENOSIS/ATRESIA VALVULAR If severe, hypoplastic LV fatal SUB-valvular (subaortic) Aortic wall THICK BELOW cusps SUPRA-valvular Aortic wall THICK ABOVE cusps in ascending aorta Asymmetric Septal Hypertrophy (Idiopathic Hypertrophic Subaortic Stenosis)