Congenital Heart Disease

Definition:-

- Anomalies of heart and large vessels development due to embriogenesis disturbances during 2-8^th weeks of pregnancy

Epidemiology :-

- Frequency - 1%

- 50-70 % die before 1 year of age (if without surgery)

- Only ½ of cases are diagnosed in maternity house; 93% - before 1^st year

- More than 40 defects are described; 8 are most common (80%)

Most common defects :-

- Ventricular septal defect (VSD)

- Atrial septal defect (ASD)

- Patent ductusarteriosus (PDA)

- Coarctation of aorta (CA)

- Stenosis of aorta (SA)

- Transposition of magistral vessels (TMV)

- Fallot’s tetralogy (FT)

Etiology – 1:-

- Viral infections (rubella, URIs, mumps, chickenpox)

- Radioactive rays

- Drugs (thalidomide)

- Toxicosis of pregnancy

- Starving

- Polyhypovitaminosis

Etiology – 2:-

- Some diseases of pregnancy (diabetes, heart diseases)

- Chromosomal diseases (Down’s syndrome, Marfan’s syndrome, Turner’s syndrome…)

- Mother’s age over 35 years

- Maternalalcoholconsumption

- Family history of a cardiac or noncardiac defect

Classification – I:-

- With left-to-right shunting (↑ pulmonary circulation)

- With right-to-left shunting (↓ pulmonary circulation)

- Without shunting

With left-to-right shunting:-

- Ventricular septal defect

- Atrial septal defect

- Patent ductusarteriosus

With right-to-left shunting:-

- Transposition of magistral vessels

- Fallot’s tetralogy

- Left heart hypoplasia

Without shunting:-

- Coarctation of aorta

- Stenosis of aorta

- Stenosis of pulmonary artery

Classification – II:-

- With increase of pulmonary circulation

- With decrease of pulmonary circulation With decrease of greater systemic circulation

- Without hemodynamic disturbances

- ___________

- With or without cyanosis

Echocardiography:-

- 3-dimensional (3D) echocardiographic images with a Doppler system with superimposing a color-coded direction and velocity of blood flow on the real-time images

Ventricular septal defect:-

- Most common: 17-30 %

- Size:0.1 cm – 3 cm

- Localization: in membranous or muscular part

- Delayed diagnosis: first months pulmonary pressure is higher → no cardiac murmur

Ventricular septal defect:-

- Small VSD: no significant hemodynamic derangement; loud murmur; can close spontaneously (in muscle segment)

- Large VSD: progressively leads to higher pulmonary resistance → irreversible pulmonary vascular changes, so-called Eisenmenger syndrome (reversal of shunt to right-to-left shunt)

Clinics:-

- Mild defect: recurrent upper respiratory infections, effort intolerance and fatigue

- Severe defect:

- Development deficit, failuretothrive

- CHF

- Pulmonary hypertension

Clinics in early infancy:-

- Dyspnea

- Feedingdifficulties

- Poorgrowth

- Profuseperspiration

- Recurrentpulmonaryinfections

- Cardiacfailure

Physical exam:-

- Rough pansystolic murmur in 3-4^th intercostal space on the left border of sternum

- Accent of S2 over pulmonary artery (pulmonary hypertension)

- Left and right ventricular enlargement (palpable parasternal lift, laterally displaced apical impulse, widened heart borders)

ECG:-

- Small VSD → Normal

- Moderate VSD → signs of LV volume overload (deep Q and tall R waves with tall T waves in leads V5 and V6), LA overload (broad P wave), atrial fibrillation

- Severe VSD → right ventricular hypertrophy, with further progression - biventricular hypertrophy

Chest X-ray:-

- Small VSD → Normal

- Moderate VSD → Increased cardiac silhouette, increased pulmonary vascular markings

- Severe VSD → Markedly prominent main PA and adjacent vessels, RV hypertrophy

Medical management:-

- Increasedcalories of feedings

- Diuretics (furosemide 1-3 mg/kg/d )

- Captopril (0.1-0.3 mg/kg every 8 h) to reduce systemic and pulmonary afterload

- Digoxin (5-10 mcg/kg/d) - if diuresis and afterload reduction do not relieve symptoms adequately.

SurgicalCare:-

- Transcatheterclosure

- Surgicalclosure

- Indicationsforsurgicalrepair:

- Uncontrolled CHF

- Large, asymptomatic defects associated with elevated PA pressure

- Pulmonary to systemic flow greater than 2:1.

- Prolapseofanaorticvalve

Complications:-

- Eisenmengercomplex

- Secondaryaorticinsufficiency

- Aorticregurgitation

- RV outflowtractobstruction

- Subaorticobstruction

- Infective endocarditis (antibiotic prophylaxis with dental or surgical procedures)

Prognosis:-

- 25 % - spontaneous closure (mostly during the first 2 years of life, can be in adults)

- 7% of infants with large defects and congestive heart failure - also spontaneous closure

- Among small defects, 80% of muscular VSDs closed and 35% of membranous

- 10 % - death during 1^st year of life

- Mean life expectancy – 40 years

Atrial septal defect:-

- Frequency: 8-15 %

- Size:small – to complete absence

- Open oval window → no clinics (30% of adults)

- Diagnosis at 1^st year – only 40% of cases

Clinics:-

- Rarelysymptomatic

- Decreasedexercisetolerance

- Large shunt → fatigue, dyspnea and arrhythmias

Physical exam:-

- Moderate systolic murmur in 2^nd intercostal space on the left border of sternum

- Accent of S2 over pulmonary artery (pulmonary hypertension)

- Signs of cardiac enlargement

ECG:-

- Right ventricular hypertrophy (lengthened PR interval and incomplete right bundle branch block)

- Atrialenlargement(P wave)

Chest x-ray:-

- Prominentrightatrium

- Prominentmainpulmonaryartery

- Increased heart size and pulmonary vascularity

Complications:-

- Sinusnodedysfunction

- Pulmonaryvenousobstruction

- Atrialfibrillation

- Pulmonaryhypertension

- Pericardial effusion or post-pericardiotomy syndrome

Prognosis:-

- Poor if CHF at early age

- Mean life expectancy – 40 years

- Best time for surgery – 1^st two decades of life

- No Px for septic endocarditis

Patent ductusarteriosus:-

- Frequency: 10-25 %

- Prematures: 50-80%

- Normal finding at 1^st week of life

- Ductus between descending aorta and pulmonary artery bifurcation

Clinics:-

- Repeated respiratory infections

- Later – liver enlargement, cyanosis

- Growth retardation

- Septic endocarditis

- CHF

Physical exam:-

- Loud systolic or systolic-diastolic murmur in the 2^nd intercostal space left from sternum

- 1^st sound accent over pulmonary artery

- Murmur diminishes at deep breath-in

- Murmur disappears with pulmonary hypertension → appears again with shift reverse

Chest X-ray:-

- LV enlargement; later + RV enlargement

- Prominent pulmonary vessels

Management:-

- Can be closed with indometacin prescription (PG E2 & I2 synthesis inhibitor) – 0.1 mg/kg q8h IV first 8-14 days of life

- Surgery best after 6 months but before severe pulmonary hypertension

Prognosis:-

- Many defects will spontaneously close before 6 mo of age

- Without surgery mortality is 20%

- Mean life expectancy is 35 years

Coarctation of aorta:-

- 5-8% ofallcongenitalheartdefects

- May occur as isolated defect or in association bicuspid aortic valve, ventricular septal defect and others

Clinics:-

- Infants – CHF (acute afterload increase after ductusarteriosus closure)

- Older children – hypertension (enough time for collaterals development)

- Left ventricle overwork → increased wall stress and compensatory ventricular hypertrophy

Physical exam:-

- Blood pressure discrepancies between upper and lower extremities

- Reduced or absent lower extremity pulses

- Differential cyanosis (pink upper extremities with cyanotic lower extremities) - rare

- Murmur: nonspecific, under the left scapula

Chest X-ray:-

- Early onset of CoA: cardiomegaly, pulmonary edema, and other signs of CHF.

- Late onset of CoA: cardiomegaly, arch indentation in the area of the coarctation, and rib notching

ECG:-

- Early onset of symptoms: RV rather than LV hypertrophy and evidence of ischemia.

- Late onset of symptoms: LV hypertrophy and signs of LV ischemia or strain.

Other tests:-

- Preductal and postductal pulse oximetry readings

- Cardiac catheterization (evaluation and possible balloon aortoplasty)

Management:-

- Prostaglandin E1 (0.05-0.15 mcg/kg/min) IV to open the ductusarteriosus

- Treatment of hypertension (beta-blockers and vasodilators)

- Treatment of CHF and shock in infants

Surgery:-

- End-to-endanastomosis

- Patchaortoplasty

- Left subclavian flap aortoplasty (left subclavian artery is brought back toward the left carotid artery to enlarge an area of transverse arch hypoplasia)

Complications:-

- Hypertension

- Intracranialhemorrhageand aneurysms

- Aorticruptureordissection

- CHF

- Recurrentcoarctationafter surgery

- Aortic aneurythm

- Paralysis(spinal cord ischemia)

- Cardiomyopathy

Prognosis:-

- Meanlife expectancy is 35 years

- Without surgery 1-st year mortality is 25%

- Requires bacterialendocarditisprophylaxis

Transposition of magistral vessels:-

- Aorta comes from RV and pulmonary artery comes from LV → 2 separated circulations

- No disturbance of fetal circulation

- Postnatal life is only possible with blood shunts (VSD, ASD, PDA)

Clinics:-

- Early total cyanosis from birth, not responsive to oxygen

- Tachycardia, tachypnoe, decreased BP

- Developmental deficit

- CHF by 1^st-2^nd month of life

Physical exam:-

- Murmurs – due to other defects (VSD, ASD, PDA)

- Cardiac borders widening

Chest X-ray and ECG:-

- Signs of RV (or both) hypertrophy

Management:-

- Urgent surgery!

Prognosis:-

- 95% die during 1^st year of life without surgery

- Mean life expectancy is 3 months

Fallot’s tetralogy:-

- Most common among cyanotic heart defects

- Right-to-left shunt

Defects of TOF:-

- Ventricularseptaldefect

- Dextrapositionoftheaorta

- Obstruction of the right ventricular outflow tract (PA stenosis)

- Rightventricularhypertrophy

- Pentade: + Atrial septal defect

- Triade: no VSD, shunt through Open oval fenestra

Clinics:-

- 4 phases:

- “Relative stable well-being”

- “Gray attacks”

- “Blue attacks”

- “Stabilization of the condition”

“Relative stable well-being”:-

- First 4-6 weeks of life

- PDA & Physiologic polycytemia → mild clinics and mild murmur (if any)

“Gray attacks”:-

- First 2-9 months of life

- Hypoxic attacks after physical strains (feeding, anxiety) – 20-25 times per day

- No cyanosis

- No complaints between attacks

- Failure to thrive

“Gray attacks” - Hypoxic attacks:-

- Sudden dyspnoe

- Grayish skin color

- Crying

- Short-period loss of consciousness

- Short-period seizures

“Blue attacks”:-

- 9 months – 3-5 years of life or all life long

- Systemic cyanosis first at attacks, then permanent

- Drumstick fingers

- Polycytemia

- Polyhlobulinemia

- Paresis and palsies (brain hemodynamics disturbances)

“Blue attacks” - Hypoxic attacks:-

- Involuntary position (knees at chest, older – squatting down): aortic pressure is increased → better shunt to pulmonary artery

- Cyanosis and dyspnea

“Stabilization of the condition”:-

- After 3-5 years:

- Permanent cyanosis, but without attacks

- Tachypnea at rest

- Murmus is less

- ECG, X-ray, Echo - worse

Physical exam:-

- Murmur of VSD

- Decreased 2^nd sound over pulmonary artery

ECG:-

- Rightventricularhypertrophy

- Left ventricular overload and some left ventricular enlargement

- Right atrial enlargement may also be present

Chest X-ray:-

- Aneurysmally dilated central pulmonary arteries with otherwise normal peripheral pulmonary vascularity.

- Cardiomegaly results from dilation of the right ventricle, particularly its outflow tract (infundibulum)

- Appearance of “boot”

Management:-

- Attacks – position, oxygen, sedatives

- Surgery!

Prognosis:-

- Without surgery – 75% mortality before 2 years of age

Date: 2015-01-11; view: 1483