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© 2012 PASTEST LTD
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Telephone: 01565 752000

All rights reserved. No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any
means, electronic, mechanical, photocopying, recording or otherwise without the prior permission of the copyright owner.

Third edition 2012

Second edition 2006
First published 2002

ISBN 978 1905635 764

eISBN 978 1909491 045

A catalogue record for this book is available from the British Library.

The information contained within this book was obtained by the author from reliable sources. However, while every effort has been made
to ensure its accuracy, no responsibility for loss, damage or injury occasioned to any person acting or refraining from action as a result of
information contained herein can be accepted by the publishers or author.

PasTest Revision Books and Intensive Courses

PasTest has been established in the field of undergraduate and postgraduate medical education since 1972, providing revision books
and intensive study courses for doctors preparing for their professional examinations.

Books, courses and online revision available for:

Medical undergraduates, MRCGP, MRCP Parts 1 and 2, MRCPCH Parts 1 and 2, MRCS, MRCOG, DRCOG, DCH, FRCA,
Dentistry.

For further details contact:

PasTest, Freepost, Knutsford, Cheshire WA16 7BR

Tel: 01565 752000 Fax: 01565 650264

www.pastest.co.uk [email protected]

Text prepared in the UK by Keytec Typesetting Ltd, Bridport, Dorset

Printed and bound in the UK by Page Bros (Norwich) Ltd
 Contents

Contributors
Preface to the Third edition

CHAPTERS

1. Cardiology
Robert Tulloh
2. Child Development, Child Mental Health and Community Paediatrics
Joanne Philpot and Ruth Charlton
3. Child Protection and Safeguarding
Joanne Philpot and Ruth Charlton
4. Clinical Governance
Robert Wheeler
5. Clinical Pharmacology and Toxicology
Steven Tomlin
6. Dermatology
Helen M Goodyear
7. Emergency Paediatrics
Serena Cottrell
8. Endocrinology and Diabetes
Heather Mitchell and Vasanta Nanduri
9. Ethics and Law
Vic Larcher and Robert Wheeler
10. Gastroenterology and Nutrition
Mark Beattie and Hemant Bhavsar
11. Genetics
Natalie Canham
12. Haematology and Oncology
Michael Capra
13. Hepatology
 Nancy Tan and Anil Dhawan
14. Immunology
Pamela Lee and Bobby Gaspar
15. Infectious Diseases
Nigel Klein and Karyn Moshal
16. Metabolic Medicine
Mike Champion
17. Neonatology
Grenville F Fox
18. Nephrology
Christopher J D Reid
19. Neurology
Neil H Thomas
20. Ophthalmology
Ken K Nischal
21. Orthopaedics
Vel K Sakthivel
22. Respiratory
Rebecca Thursfield and Jane C Davies
23. Rheumatology
Nathan Hasson
24. Statistics
Angie Wade
25. Surgery
Merrill McHoney

Picture Permissions
Index
Contributors to the Third Edition

Dr R M Beattie BSc MBBS MRCP FRCPCH

Consultant Paediatric Gastroenterologist, Southampton General Hospital, Southampton

Hemant S Bhavsar MBBS DCH MRCPCH MD

Specialist Registrar in Paediatric Gastroenterology, Birmingham Children’s Hospital, Birmingham

Natalie L E Canham MBChB BA (Hons) MRCP (Paeds)

Consultant in Clinical Genetics, North West Thames Regional Genetics Service, Northwick Park
Hospital, Harrow, Middlesex

Michael L Capra MBBCH DCH Dip. Obst FRPCH MMedSci (Clinical

Education)
Consultant Paediatric Oncologist, Department of Haematology/Oncology, Our Lady’s Children’s
Hospital, Crumlin, Dublin 12

Michael P Champion BSc MBBS MRCP FRCPCH

Consultant in Paediatric Inherited Metabolic Disease, Evelina Children’s Hospital, Guy’s and St.
Thomas’ NHS Foundation Trust, London

Ruth Charlton MBBS MRCP MRCPCH

Consultant Paediatrician, Epsom and St. Helier University Hospitals NHS Trust, Epsom, Surrey

Serena Cottrell BSc (Hons) MBBS MRCPI MMed Sci FRCPCH

Lead Consultant in Paediatric Emergency Medicine, Queen Alexandra Hospital, Portsmouth

Jane C Davies MBChB MRCP MRCPCH MD

Honorary Consultant, Paediatric Respiratory Department, Royal Brompton Hospital, London

Professor Anil Dhawan MD FRCPCH

Paediatric Liver Centre, Kings College Hospital NHS Foundation Trust, London

Grenville F Fox MBChB MRCP FRCPCH

Consultant Neonatologist, Evelina Children’s Hospital Neonatal Unit, Guys and St Thomas’ Hospital
Foundation Trust, London

Professor Bobby Gaspar BSc MBBS MRCP (UK) PhD MRCPCH

Professor of Paediatrics and Immunology, Centre for Immunodeficiency, Molecular Immunology Unit,
UCL Institute of Child Health, University College London, London

Helen M Goodyear MBChB MRCP FRCPCH MD MMed

Consultant Paediatrician and Associate Postgraduate Dean, Birmingham Heartlands and Solihull NHS
Trust, Department of Child Health, Birmingham

Nathan Hasson MBChB FRCPCH

Consultant Paediatric Rheumatologist, The Portland Hospital, London

Professor Nigel Klein BSc MBBS MRCP FRCPCH PhD

Professor of Infection and Immunology, University College London, Consultant in Infectious Diseases,
Great Ormond Street Hospital, London

Vic Larcher BA MA MB BChir MRCP FRCPCH

Consultant in Adolescent Medicine (Chronic Fatigue) and in Clinical Ethics, Adolescent Medicine
Department, Level 10 Southwood Building, Great Ormond Street Hospital, London

Pamela Lee MBBS MRCPCH

Honorary Clinical Fellow, Great Ormond Street Hospital NHS Trust, London

Merrill McHoney FRCS(Paed Surg) PhD

Consultant Paediatric Surgeon, Royal Hospital for Sick Children Edinburgh, Edinburgh

Heather Mitchell BM.BCh MD MA FRCPCH MRCP(Paeds) MRCGP DCH

DRCOG
Consultant Paediatrician, West Hertfordshire Hospitals Trusts

Karyn Moshal MBChB MRCP (UK) MRCPCH DTM+H

Consultant in Paediatric Infectious Diseases, Great Ormond Street Hospital for Children, London

Vasanta R Nanduri MBBS DCH MRCP MD FRCPCH

Consultant Paediatrician, Watford General Hospital, Watford

Ken K Nischal FRCOphth

Director and Professor, UPMC Children’s Hospital of Pittsburgh, USA
Honorary Consultant, Great Ormond Street Hospital for Children, London

Joanne Philpot BA MBBS MD DCH MRCPCH

Consultant Paediatrician, Wexham Park Hospital, Slough
Christopher J D Reid MB ChB MRCP (UK) FRCPCH
Consultant Paediatric Nephrologist, Evelina Children’s Hospital, London

Vel K Sakthivel FRCS(Ed), FRCS (Orth)

Consultant in Trauma and Orthopaedics, University Hospitals Southampton, Southampton

Nancy Tan MBBS MMED (Paeds) MRCPCH (Edin) Dip (FP) Derm (S’pore)
Consultant, Department of Paediatrics Medicine, KK Women’s and Children’s Hospital, Singapore

Neil H Thomas MA MB MChir FRCP FRCPCH DCH

Consultant Paediatric Neurologist, Southampton General Hospital, Southampton

Rebecca Thursfield MBChB MRCPCH

Clinical Research Fellow, Dept Paediatric Respiratory Medicine, Royal Brompton Hospital, London

Stephen R Tomlin FRPharmS ACPP

Consultant Pharmacist – Children’s Services, Evelina Children’s Hospital, London
Honorary Senior Lecturer, Centre for Paediatric Pharmacy Research, University College School of
Pharmacy

Robert M R Tulloh MA DM FRCP FRCPCH

Consultant in Paediatric Cardiology with an interest in Pulmonary Hypertension, Bristol Congenital
Heart Centre, Hon reader in Clinical Sciences, University of Bristol
Director of Medical Education, University Hospitals Bristol NHS Foundation Trust, Bristol

Angie M Wade MSc PhD CSTAT ILTM

Senior Lecturer in Medical statistics, Centre for Paediatric Epidemiology and Biostatistics, Institute
of Child Health, London

Robert Wheeler FRCS MS LLB(Hons) LLM

Consultant Neonatal and Paediatric Surgeon, Senior Lecturer in Clinical Law, Wessex Regional
Paediatric Surgical Centre, Southampton General Hospital, Southampton
 Preface to the Third Edition

The first edition of Essential Revision Notes for the MRCPCH was in response to the candidates
often expressed desire for a single text covering essential information required for the examination in
a clear and concise way. The format of the examination has changed considerably over the 10 years
since, although the need for a sound knowledge base of the principles and practice of paediatrics
remains crucial for success. We have been delighted with the response to the first and second edition
of this text and the consistent positive feedback from trainees. The third edition has been completely
revised and extensively updated and we hope will continue to be considered as relevant to the
examination and future paediatric practice.

We are indebted to the many contributing authors, experts in their fields and expert clinical teachers.
We are indebted to PASTEST for their continued enthusiastic support.

We are also indebted to the candidates for their enthusiasm and commitment to the speciality and hope
very much that this new edition of Essential Revision Notes for the MRCPCH will continue to help
trainees to get through their paediatric membership and be useful to them subsequently as an up to
date and relevant paediatric textbook.

Mark Beattie
Mike Champion
 Chapter 1
Cardiology
Robert Tulloh

CONTENTS

1. Diagnosis of congenital heart disease

1.1 Fetal cardiology
1.2 Epidemiology
1.3 Cardiac anatomy
1.4 Nomenclature for sequential segmental arrangement
1.5 Examination technique
1.6 Innocent murmurs

2. Basic cardiac physiology

2.1 Physiology of adaptation to extrauterine life
2.2 Physiology of congenital heart disease
2.3 Physiology of heart muscle and heart rate

3. Left-to-right shunt
3.1 Atrial septal defect (ASD)
3.2 Ventricular septal defect (VSD)
3.3 Persistent ductus arteriosus (PDA)
3.4 Aortopulmonary window
3.5 Others

4. Right-to-left shunt
4.1 Tetralogy of Fallot
4.2 Transposition of the great arteries
4.3 Pulmonary atresia
4.4 Ebstein anomaly
4.5 Eisenmenger syndrome
5. Mixed shunt
5.1 Complete atrioventricular septal defects
5.2 Tricuspid atresia
5.3 Others

6. Obstruction in the well child

6.1 Aortic stenosis
6.2 Pulmonary stenosis
6.3 Adult-type coarctation of the aorta
6.4 Vascular rings and slings

7. Obstruction in the sick newborn

7.1 Coarctation of the aorta
7.2 Hypoplastic left heart syndrome
7.3 Critical aortic stenosis
7.4 Interruption of the aortic arch
7.5 Total anomalous pulmonary venous connection

8. Non-bypass surgery for congenital heart disease

8.1 Shunt operation
8.2 Coarctation of the aorta repair
8.3 Pulmonary artery band
8.4 Arterial duct ligation

9. Bypass surgery for congenital heart disease

9.1 Switch operation
9.2 Fontan
9.3 Norwood
9.4 Rastelli
9.5 Other operations

10. Syndromes in congenital heart disease

10.1 Isomerism
10.2 Trisomy
10.3 Williams syndrome
10.4 Noonan syndrome
10.5 DiGeorge syndrome
10.6 Alagille syndrome
10.7 Turner syndrome
10.8 Marfan syndrome
10.9 VACTERL
10.10 Holt–Oram/Thrombocytopenia and absent radius (TAR)/Fanconi syndromes
10.11 CHARGE
10.12 Pentalogy of Cantrell
 10.13 Dextrocardia
10.14 Other syndromes

11. Syncope in childhood

12. Pulmonary hypertension

12.1 Persistent pulmonary hypertension of the newborn
12.2 Increased pulmonary blood flow
12.3 Chronic hypoxia
12.4 Pulmonary venous hypertension

13. Drug therapy for congenital heart disease

13.1 Heart failure
13.2 Anticoagulation
13.3 Pulmonary hypertension
13.4 Antiarrhythmia

14. Acquired heart disease

14.1 Kawasaki disease
14.2 Dilated cardiomyopathy
14.3 Hypertrophic cardiomyopathy
14.4 Suspected bacterial endocarditis
14.5 Rheumatic fever
14.6 Pericarditis

15. ECG
15.1 The ECG and how to read it
15.2 Tachycardias
15.3 Bradycardias

16. Chest X-rays

16.1 Cardiac outlines

17. Cardiac catheterization

17.1 Diagnostic cardiac catheterization
17.2 Interventional cardiac catheterization

18. Imaging
18.1 Echocardiography
18.2 Magnetic resonance imaging
18.3 Positron emission tomography
18.4 Radionuclear angiography
19. Further reading
Cardiology

1. DIAGNOSIS OF CONGENITAL HEART DISEASE

1.1 Fetal cardiology

Diagnosis
In the UK, most children (>70%) who require infant surgery for congenital heart disease (CHD) are
diagnosed during pregnancy at 16–20 weeks’ gestation. This gives a significant advantage to the
parents who are counselled by specialists who can give a realistic guide to the prognosis and
treatment options. A few undergo termination of pregnancy (depending on the diagnosis). Most
continue with the pregnancy and can be offered delivery within the cardiac centre if there could be
neonatal complications or if treatment is likely to be needed within the first 2 days of life. Surgical
intervention during fetal life is not yet routinely available.

Screening (by a fetal cardiologist) is offered to those with:

• Abnormal four-chamber view on routine-booking, antenatal-anomaly ultrasound scan

• Increased nuchal translucency (thickness at back of the neck), which also increases the risk of
Down syndrome
• Previous child with or other family history of CHD
• Maternal risk factors, such as phenylketonuria or diabetes
• Suspected Down, or other, syndrome

Important normal findings on fetal echocardiography include echodensities:

• Used to be called ‘golf balls’

• Found on anterior mitral valve papillary muscle
• Thought to be calcification during development
• No importance for CHD
• Positive association with Down syndrome
• Do not need echocardiogram after delivery

Arrhythmias
• Diagnosed at any time during pregnancy: an echocardiogram is required to confirm normal anatomy
and to confirm type of arrhythmia. Fetal electrocardiogram (ECG) is not yet a routine investigation
• Multiple atrial ectopics are usually not treated
• Supraventricular tachycardia is usually treated with maternal digoxin or flecainide
• Heart block may be treated with maternal isoprenaline or salbutamol
• Presence of hydrops is a poor prognostic sign

1.2 Epidemiology of congenital heart disease

Eight per 1000 live births have CHD, of which the most common are:

• Ventricular septal defect 30%

• Persistent arterial duct 12%
• Atrial septal defect 7%
• Pulmonary stenosis 7%
• Aortic stenosis 5%
• Coarctation of the aorta 5%
• Tetralogy of Fallot 5%
• Transposition of the great arteries 5%
• Atrioventricular septal defect 2%

Incidence is increased by a positive family history, so the proportion of live births with CHD will be:

• Previous sibling with CHD 2%

• Two siblings with CHD 4%
• Father with CHD 3%
• Mother with CHD 6%

Incidence also increased by:

• Presence of other anomaly or syndrome

• Parents with an abnormal genotype
• Maternal ingestion of lithium (Ebstein anomaly)
• Third-trimester enterovirus or Coxsackievirus infection (myocarditis, dilated cardiomyopathy)
• Maternal systemic lupus erythematosus (anti-ro, anti-la antibodies leading to congenital heart
block)

1.3 Cardiac anatomy

Normal heart

1.4 Nomenclature for sequential segmental arrangement

The European (as opposed to American) system for complete heart diagnosis is referred to as
‘sequential segmental arrangement’. The advantage is that it is no longer necessary to remember the
pattern of an eponymous syndrome. The disadvantage is that it is quite long-winded. The idea is that
each component is described in turn:

Atrial arrangement (atrial situs)

• Usual (solitus)
• Mirror image (inversus)
• Right isomerism (asplenia syndrome)
• Left isomerism (polysplenia syndrome)

Atrioventricular (AV) connection

Type of atrioventricular connection

• Biventricular:
• Concordant
• Discordant
 Ambiguous (with atrial isomerism)
•
• Univentricular:
• Absent left AV connection
• Absent right AV connection
• Double inlet AV connection

Mode of atrioventricular connection

• Two AV valves
• Common AV valve
• Straddling right or left AV valve
• Imperforate right or left AV valve
• Overriding right or left AV valve

Ventricular topology

• Right-hand (normal) or left-hand topology

Ventriculoarterial connection

Type of ventriculoarterial connection

• Concordant
• Discordant
• Double outlet
• Single outlet:
• Common arterial trunk
• Solitary arterial trunk
• With pulmonary atresia
• With aortic atresia

Mode of ventriculoarterial connection

• Two perforate valves

• Left or right imperforate valve

Infundibular morphology

Arterial relationships

Associated malformations
• Position of heart in the chest – left, right or middle
• Systemic and pulmonary veins
• Atrial septum
• Atrioventricular valves
• Ventricular septum
• Semilunar valves
• Anomalies of great arteries (e.g. double aortic arch)

Surgical or interventional procedures

Acquired or iatrogenic lesions

1.5 Examination technique

To many candidates the diagnosis of congenital heart disease is daunting. Certainly, if the candidate
examines the child, listens to the heart and then tries to make a diagnosis, this will prove difficult.
The following system should be used instead.

History
The history taking is short and to the point. The candidate needs to know:

• Was the child born preterm?

• Are there any cardiac symptoms of:
• heart failure (breathlessness, poor feeding, faltering growth, cold hands and feet)?
• cyanosis?
• neonatal collapse?
• Is it an asymptomatic heart murmur found on routine examination?
• Is there a syndrome such as Down syndrome?
• Is there any family history of congenital heart disease?
• Did the mother have any illnesses or take any medication during pregnancy?

Examination
• Introduce yourself to mother and patient. Ask if you can examine the child.
• Position child according to age:
• For a 6 year old – at an angle of 45°
• For a toddler – upright on mother’s knee
• For a baby – flat on the bed
• Remove clothes from chest
• Stand back and look for:
• Dysmorphism
• Intravenous infusion cannula
• Obvious cyanosis or scars.
The following examinations should be performed.

Heart failure

The delivery of oxygen to the peripheral vascular bed is insufficient to meet the metabolic demands of
the child. Usually because of left-to-right shunt with good heart pump function.

• A thin, malnourished child (faltering growth)

• Excessive sweating around the forehead
• Tachycardia
• Breathlessness ± subcostal or intercostal recession
• Poor peripheral perfusion with cold hands and feet
• A large liver
• Never found with ventricular septal defect (VSD) or other left-to-right shunt in first week of life
• An emergency if found up to 7 days of age. Implies a duct-dependent lesion, e.g. hypoplastic left
heart syndrome or coarctation

Cyanosis
• Mild cyanosis is not visible – use the pulse oximeter

Clubbing
• Visible after 6 months old
• First apparent in the thumbs or toes
• Best demonstrated by holding thumbs together, back to back to demonstrate loss of normal nail-bed
curvature
• Disappears a few years after corrective surgery

Pulse
• Rate (count for 6 seconds × 10)
• Rhythm (only ‘regular’ or ‘irregular’, need ECG for ‘sinus rhythm’)
• Character at the antecubital fossa with the elbows straight, using the thumbs – on both arms together

Head and neck

• Anaemia – for older children only – ask the patient to look up and examine the conjunctivae (not
appropriate in a baby).
• Cyanosis – the tongue should be examined for central cyanosis. If in doubt ask the child to stick out
their tongue and ask the mother to do the same. This will detect oxygen saturations of <85%.
• Jugular venous pressure – the head is turned towards the candidate so that the other side of the neck
(the left side) can be seen with the jugular venous pressure visible, outlined against the pillows. In
a child who is under 4 years, the jugular venous pressure should not be assessed.
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