Cyanotic Congenital Heart Disease Dr. Ahmad Rustam bin Mohd Zainudin MD, MMed (UKM) Paediatric Cardiologist Hospital Pulau Pinang

Lecture Outline Overview and Causes of Cyanosis Cyanotic Congenital Heart Disease –Types –Clinical Features –Management

Cyanosis "Blue discolouration of the skin & mucous membrane" Deoxygenated Hb reaches 4 to 6 gm/dl, cyanosis may be seen. Normally approximately 80-87% oxygen saturation would give rise to clinically apparent cyanosis. However, in cases of anemia where haemoglobin levels are low, lower oxygen saturation may show up as cyanosis. Hb level of 6 g/dl for example shows cyanosis only when oxygen saturation has dropped below 60%

Hyperoxia test 100% O2 via HBO2 for 15 minutes ABG from right radial artery Cyanotic CHD: –pO2 <100mmHg; or –rise in pO2 <20 mmHg Shortfalls: –Massive intrapulmonary shunts (eg: PPHN, AVM): pO2 <100 mmHg –Cyanotic CHD with large pulmonary blood flow (eg: TAPVD): pO2 may significantly rise with O2

Heart Disease in Children AcquiredCongenital AcyanoticCyanotic

Differential Diagnosis of CCHD CXR Increased Pulmonary Vascularity ECG RVH: TGA, TAPVD LVH or BVH: Truncus, Single ventricle, TGA & VSD Decreased Pulmonary Vascularity ECG RVH: TOF LVH: Pulmonary Atresia, Tricuspid Atresia BVH: Single ventricle & PS, TGA & PS RBBB: Ebstein anomaly

Differential Diagnosis of CCHD Increased Pulmonary Vascularity  TGA  TAPVD  Truncus Arteriosus  Single Ventricle Decreased Pulmonary Vascularity  Pulmonary Atresia  Tricuspid Atresia  Single ventricle with PS  TGA with PS  Ebstein anomaly

Most common cyanotic congenital heart disease 5Ts TGATOFTAPVD Tricuspid Atresia Truncus

Tetralogy of Fallot

5-10% of CHD Criteria: –Large VSD –Overriding of Aorta –Pulmonary stenosis –Right Ventricular Hypertrophy Clinical features: –Cyanosis, Murmur –Hypercyanotic spells Investigations: –CXR: "boot-shaped" heart –ECG: RAD, RVH –Echo: confirmed diagnosis

Hypercyanotic spell Also known as ‘tet’ spell (commonly seen in Tetralogy of Fallot) Characterized by: –Period of uncontrollable cry/ panic –Rapid & deep breathing (hyperpnea) –Deepening of cyanosis –Decreased intensity of heart murmur –Limpness, convulsions & rarely, death Peak age: 2-24 months –Taksande et al, J MGIMS, 2009

How does it happen? Imbalance between pulmonary & systemic vascular resistance  decreased pulmonary blood flow & increased right-to-left shunting. Results in fall of arterial PaO2 Fall in pH  stimulate respiratory centre  hyperpnea Presence of fixed resistance at the RVOT  more shunting  vicious cycle of hypoxic spell –Taksande, J MGIMS, 2009

Medical Emergency!!! Knee-chest/ squatting position O2 100% IV/IM/SC Morphine mg/kg IV Propanolol mg/kg slow bolus over 10 min (alternative: IV Esmolol/ IV Metoprolol) IV NaHCO3 1mEq/kg Vasopressor +/- Inotropes Fluid challenge Heavy sedation, intubation & ventilation

Management of TOF Medical Palliative Oral propanolol procedure/ surgery mg/kg bd/tds RVOT stenting BT shunt Corrective Surgery VSD closure & RVOT resection (ideally at 6-12 months old)

Palliative procedures RVOT stentingModified BT shunt

Thomas-Blalock-Taussig Shunt Helen TaussigAlfred Blalock Vivien Thomas

Transposition of Great Arteries

dTGA: 5-7% of CHD; Boys 3:1 Most common cause admission for cyanotic CHD during 1st 2 weeks of life Criteria: –Aorta arises anteriorly from RV –PA arises posteriorly from LV Other associated defect: –50% no other defect (other than small PFO/PDA) –30-40% VSD, 5% PS, 10% VSD with PS Clinical features: –Cyanosis (usually noted at birth) –Heart failure Investigations: –CXR: Cardiomegaly, "egg on side" –Echo: confirmed diagnosis

Management Simple TGA (intact ventricular septum) –Prostaglandin E infusion 5-60ng/kg/min –Balloon Atrial Septostomy (BAS) –Atrial Switch Operation (ASO) at 2-4 weeks TGA with VSD –ASO & VSD closure at 1-3 months TGA with VSD & PS –BT shunt during infancy –Rastelli repair at 4-6 years

Total Anomalous of Pulmonary Venous Drainage

Types of TAPVD

Total Anomalous of Pulmonary Venous Drainage 1% CHD, Boy 4:1 (infracradiac type) Types: –Supracardiac (50%) –Intracardiac (20%) –Infracardiac (20%) –Mixed (10%) Clinical features: –Obstructed: Cyanosis, respiratory distress, profound desaturation, acidosis, pulmonary HPT, FTT –Unobstructed: Cyanosis, HF Investigations: –CXR: "snowman" sign –Echo: Large RA,RV. Small LA, PHT, abnormal pulmonary venous return

Management Digitalis & diuretics- control HF Correction of metabolic acidosis Ventilatory support (high PEEP) Corrective surgery: –Obstructed: Urgent (ASAP) –Unobstructed: 4-6 months old

Tricuspid Atresia

1-3% CHD Criteria: –Absent tricuspid valve, hypoplastic RV –most common (50%): normally related great arteries, small VSD, PS Associated defect: –ASD, VSD, PDA (necessary for survival) –30% TGA, COA, IAA, subaortic stenosis Clinical features: –Cyanosis at birth –Hepatomegaly Investigations: –CXR: reduced pulmonary vascularity –Echo: TA, relation of great arteries, pulmonary arteries assessment

Management Management of Tricuspid Atresia PG infusion +/- BAS Restrictive PBFUnrestrictive PBF PDA stenting/PA banding BT shunt Glenn shunt Fontan (TCPC)

Truncus Arteriosus

Truncus arteriosus 1% CHD Criteria: –single arterial trunk with a truncal valve leaves the heart & gives rise to the pulmonary, systemic & coronary circulations. Types: –Type 1: MPA present –Type 2: No MPA –Type 3: RPA & LPA distant –Type 4: RPA & LPA from descending aorta Clinical features: –Cyanosis, HF Investigations: –CXR: cardiomegaly, increased pulmonary vascularity –Echo: confirmed diagnosis

Truncus arteriosus

Truncus arteriosus repair

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