Non cyanotic congenital heart diseases Krzysztof Narebski Torun

Problems to discuss I. • • Non cyanotic congenital heart diseases (in theory) : Coarctation of aorta Aortic stenosis Hypoplastic left heart syndrome and Truncus arteriosus communis II. Heart failure

Changes in circulation from fetus to newborn. When congenital heart lesions rely on blood flow through the duct (a duct-dependent circulation), there will be a dramatic deterioration in the clinical condition when the duct closes.

Coarctation of the aorta (Co. A)

Co. A - types 1. Duct dependant Co. A - life threatening malformation with symptoms of heart failure from the neonatal period. 2. Non duct dependant Co. A - with hypertension in upper limbs, diminished femoral pulses and systolic murmur between shoulder blades. Ancient terminology as preductal (infantile) type and postductal (adult) type.

Co. A - type 1 Juxtaductal location – the most common The systemic circulation is maintained by blood flowing right to left across the DA - a duct-dependent systemic circulation and cyanosis !!!

Co. A type 2 The descending aorta and its branches are perfused by collateral channels from the axillary and internal thoracic arteries through the intercostal arteries.

CXR Murmur ECG Co. A

Co. A – signs and symptoms 1. Neonate with severe Co. A – cardiovascular collapse (pale, irritable, diaphoretic, dyspneic with hepatomegaly and lack of femoral pulses). Resemble sepsis !!! (icterus, oliguria, acidosis) 2. Older infants and children (mild Co. A) – hypertension in upper part (headache, chest pain), hypotension in lower part (cold extremities, leg claudication). After years heart failure and aortic dissecting aneurysm can occur. 3. If female look for Turner syndrome !

Co. A – cardiac examination • Ejection (systolic) murmur over the coarctation – usually left interscapular area. • Continuous murmur – in case of extensive collateral circulation to the distal body

Normal Co. A – echo

Co. A – chest x - ray • If infants evolve to CHF - generalized cardiomegaly with increased pulmonary vascular markings due to pulmonary congestion. • In older children and adults can occur: - Notching of posterior one-third of the third to eighth ribs due to erosion by large collateral arteries (usually after the age of four). Not seen in anterior ribs because the anterior intercostal arteries are not located in costal grooves. - A discrete indentation of aortic wall at site of the coarctation plus prestenotic and poststenotic dilatation can produce a "3" sign.

Co. A – chest x - ray Notching ” 3” sign

Co. A - treatment 1. Severe coarctation : - prostaglandin iv to maintain ductal patency - surgery as definitive treatment (resection with end to end anastomosis) 2. Milder Co. A or recurrent Co. A after surgery : - balloon angioplasty - stenting (usually after balloon angioplasty)

Aortic stenosis (AS)

AS - types 1. Valvular stenosis (usually due to bicuspid aortic valve with prominent nodular masses of calcium). The most common type. 1. Subvalvular (subaortic) stenosis. 1. Supravalvular stenosis.

Aortic stenosis AS. (b) Murmur. (c) Chest radiograph. (d) ECG.

AS – signs and symptoms • In severe stenosis - duct dependant systemic circulation – cardiovascular collapse, cyanosis can occur • Symptoms of congestive heart failure - pale • Teenagers – sudden death (prolongation of QT interval)

AS – cardiac abnormalities • Ejection (systolic) murmur in aortic area. • Cardiomegaly in advanced disease. • ECG LV hypertrophy and LV strain (repolarization abnormality) in advanced disease.

AS – chest x - ray White arrow - poststenotic dilatation Red arrow - left ventricular enlargement

AS - CT Calcification of the aortic valve

AS - echocardiography • Valvular stenosis : dismorphic bicuspid or unicuspid valve, annular hypoplasia • Subvalvular (subaortic) stenosis : 1. fixed stenosis because of fibrous diaphragm 2. dynamic obstruction because of myocardial hypertrophy • Supravalvular stenosis: rare

AS - treatment • If severe stenosis – prostaglandin iv • Percutaneous balloon valvuloplasty or surgery as definitive treatment

Hypoplastic left heart syndrome (HLHS)

The entire left side of the heart is underdeveloped!!! 1. Hypoplastic left ventricle 2. Hypoplastic aortic arch (Co. A can occur) 3. Hypoplastic / stenotic mitral and aortic valves 4. PDA and PFO supplies blood to systemic circulation

HLHS – signs and symptoms Signs of heart failure up to cardiogenic shock (cardiovascular collapse) when closure of DA : • Hypothermia • Weak pulses in all extremities • Tachycardia • Respiratory distress • Pallor up to cyanosis • Hepatosplenomegaly • Usually no cardiac murmur

HLHS - ecg • • • Sinus tachycardia Right axis deviation Right atrial enlargement Right ventricular hypertrophy Paucity of left ventricular forces in left precordial leads

Chest x-ray (A) and ECG (B) of newborn on the first day of life.

HLHS - echo

HLHS - treatment Lethal if not surgically addressed! Before surgery : • Prostaglandin iv infusion • Carefully with oxygen (lower PVR) • Carefully with diuretics (if pulmonary overcirculation) • Ionotropes can be successful Surgery as definitive treatment (up to heart tx)!

Truncus arteriosus communis (TAC)

TAC 1. Single arterial trunk 2. Normal ventricles 3. Single semilunar valve 4. Small or absent DA (not required for fetus)

TAC Different types of pulmonary arteries origin.

TAC – other possible features • Structural abnormalities of the truncal valve, (dysplastic and supernumerary leaflets). • Regurgitation (moderate or severe) through the truncal valve.

TAC - pathophysiology Combination of heart failure and cyanosis. • Qp > Qs typically 3 -fold higher (lower PVR). • Pulmonary overcirculation and heart failure. • Mixing of left and right ventricular output at common trunk resulting in subnormal systemic arterial oxygenation.

TAC – signs and symptoms • Heart failure (poor feeding, diaphoresis, tachypnea, tachycardia) • Cyanosis • Progressive metabolic acidosis and myocardial dysfunction, which can result in multiple organ failure • Association with Di. George syndrome

TAC - murmurs VSD large – equalization of pressures = no VSD murmur. Murmurs can be: Diastolic (regurgitation) through common valve. Systolic if stenotic pulmonary artery. Cyanosis rather than palor.

TAC Cardiomegaly with increased pulmonary vascularity

TAC - ecg • Biventricular hypertrophy • Left atrial enlargement (patients with substantial pulmonary overcirculation)

TAC echo

TAC MRI

TAC - treatment • Without surgery almost 100% mortality by the age of 1 year. • Digitalis and diuretics for congestive heart failure. • Surgery as definitive treatment.

Recapitulation

Common features for Co. A, AS, HLHS and Interrupted aortic arch according to degree of left ventricular outlet obstruction (LVOTO) are : 1. Cardiovascular collapse (severe) - duct dependant systemic circulation, hence cyanosis can occur !!! 2. Congestive heart failure (less severe) with pallor !!! In TAC there is heart failure (pallor), sometimes also cyanosis, but no LVOTO !

Treatment for Co. A, AS, HLHS and Interrupted aortic arch with severe left ventricular outlet obstruction (LVOTO) and cardiovascular collapse (closure of DA) is : Prostaglandin (PGE 1) continuous iv infusion 0. 1 – 0. 01 mcg/kg/min In TAC PGE 1 is not administered!

Cyanosis develops either : by desaturation of arterial blood (central cyanosis) or : by increased extraction of oxygen by peripheral tissues (peripheral cyanosis), as occurs in severe heart failure or shock.

Heart failure

Heart failure - abbreviations • • CHF – congestive heart failure PVR – pulmonary vascular resistance SVR – systemic vascular resistance CVP – central venous pressure RAAS - renin-angiotensin-aldosterone system Qp – pulmonary blood flow Qs – systemic blood flow

Heart failure vs. shock Definition of heart failure : Clinical syndrome characterized by systemic perfusion inadequate to meet the body's metabolic demands (oxygen and nutrients) as a result of impaired cardiac pump function. Definition of shock : Inability of cardiovascular system to provide tissues with oxygen (oxygen deficit) plus hypotension.

Heart failure vs. shock Types of shock : 1. Hypovolemic - dehydration, bleeding 2. Distributive - anaphylactic, septic or trauma (there is not net hypovolemia but improper distribution of fluid) 3. Cardiogenic ~ cardiovascular collapse Heart failure progresses gradually in opposition to cardiogenic shock which is a sudden illness !!!

Heart failure - types 1. Mechanical dysfunction : - Systolic overload (pressure) – systemic or pulmonary hypertension, Co. A, aortic or pulmonary stenosis - Diastolic overload (shunt or valve insufficiency) : AVSD, ASD 2. Filling (of ventricles) dysfunction : - mitral or tricuspid stenosis, tamponade 3. Direct cardiac cell injuries : - hypoglycemia, asphyxia, toxins, infarction

Heart failure – right ventricle Increased end diastolic pressure and volume in RV : • Enlargement of RV • Tricuspid valve insufficiency (murmur) Increased pressure in right atrium and Increased central venous pressure (CVP) hence : • Hepatosplenomegaly • Pleural, peritoneal or pericardial effusion (rare) • Edemas (palpebral, limbs) • Cyanosis (deceleration of blood flow, lower venous saturation, polycythemia)

Heart failure – left ventricle Increased end diastolic pressure and volume in LV : • Enlargement of LV • Mitral valve insufficiency (murmur) Increased pressure in LA – arrhythmia, atrial flutter Increased pulmonary venous pressure hence : • Dyspnoea (shortness of breath) • Crepitations on pulmonary auscultation If chronic process – congestive heart failure !!! If sudden process – pulmonary edema !!!

Heart failure – cardiac etiology Neonates – obstructed systemic circulation : - Hypoplastic left heart syndrome - Critical aortic valve stenosis - Critical Co. A, interrupted aortic arch Infants – enlarged pulmonary blood flow : - AVSD, Large ASD and PDA Older children and adolescents : - Eisenmenger syndrome - Rheumatic heart disease - Cardiomyopathy

Heart failure – non cardiac etiology - Neonatal sepsis, asphyxia, hypoglycemia, hypocalcaemia - Tachyarrhythmia - Respiratory insufficiency (e. g. pneumonia, air leak syndrome) - Toxic injury (e. g. cocaine)

Heart failure Symptoms (breathlessness on feeding or exertion) : - Sweating - Poor feeding (failure to thrive) - Recurrent chest infections Signs : - Tachypnea / tachycardia - Heart murmur, gallop rhythm - Enlarged heart - Hepatosplenomegaly - Cool peripheries

Shortness of breath Especially in congestive heart failure • PVR much less than SVR (pulmonary pressure < systemic pressure) • VSD, AVSD associated with left to right shunt and increased pulmonary blood flow, which lead to: vasculature engorged and intestinal edema, leading to excess fluid in the lung tissue causing a barrier for gas exchange As compensation tachypnea and respiratory effort. As complication respiratory infections.

Fatigability and failure to thrive Children with CHF (due to left to right shunt) cannot feed and grow well b/o: 1. Overstimulation of catabolism (catecholamines, RAAS) and suppresion of anabolism (insulin). 2. Shortage of substrates (oxygen and nutrients).

Heart failure - treatment According to etiology !!! - calcium or oxygen administration, pleural drainage, antibiotics, surfactant, etc. - surgery (Co. A, AVSD, TAC, AS, PS) and Symptomatic treatment !!!

HF – symptomatic treatment • Limit exertion, tube feeding • Fluid restriction • Oxygen (carefully in left to right shunt; can increase shunt and diminish systemic load !) • If severe - reduce energy expenditure (mechanical ventilation, parenteral nutrition)

HF – symptomatic treatment 1. Diminish overload (diuretics) : spironolactone, furosemide 2. Diminish neurohormonal reaction : Catecholamines & RAAS can injure cardiac cells. (ACE inhibitors, betablockers - carefully in infants) 3. Augment cardiac output (ionotropes): digoxin; in severe CHF (catecholamines – dobutamine, dopamine and noradrenaline; or phosphodiesterase inhibitor - corotrope)

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