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Paeds Topicscardiology

Paeds · cardiology

Cardiomyopathies in children

Also known as Paediatric cardiomyopathy · Hypertrophic cardiomyopathy in children · Dilated cardiomyopathy in children · Restrictive cardiomyopathy in children · Left ventricular non-compaction

Fellowship guide to the paediatric cardiomyopathies: the morphological framework (dilated, hypertrophic, restrictive, non-compaction, arrhythmogenic), the genetic substrate and cascade family screening, the pathophysiology that drives heart failure, arrhythmia and sudden cardiac death, the bedside and echocardiographic assessment, the medical, device and transplant management, and the long-term prognosis that makes this the commonest reason for paediatric heart transplantation.

high10 referencesUpdated 13 July 202624 min readVerification in progress

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Red flags

  • A child or adolescent with cardiomyopathy who has a syncope, pre-syncope, chest pain on exertion, or palpitations has presumed risk for sudden cardiac death until stratified — restrict from sport and refer urgently to a cardiologist for ECG, Holter and echocardiography
  • A first-degree relative of a patient with hypertrophic or arrhythmogenic cardiomyopathy must never be labelled 'reassured' on a normal echocardiogram alone — genotype-negative does not exclude disease, and genotype-positive phenotype-negative relatives need lifelong surveillance
  • Restrictive cardiomyopathy in a child carries the worst prognosis of all cardiomyopathy subtypes, with a high rate of sudden death and transplant; early transplant assessment is mandatory rather than prolonged medical therapy
  • Dilated cardiomyopathy presenting in infancy may be inborn errors of metabolism or a treatable supraventricular tachycardia (tachycardiomyopathy) — a sustained heart rate above 200 in a baby with poor function must have tachyarrhythmia actively excluded

Life stages

fetalneonateinfanttoddlerpreschoolschool-ageadolescentyoung-adult-transition

Care settings

preventive-medical-homeoutpatientwarded-acutenicupicu

Clinical exam formats

written-only

Board mappings

  • Cardiomyopathies in children
  • Paediatric cardiomyopathies: classification, genetics, and sudden cardiac death
  • Cardiomyopathy: classification, family screening, and management
  • Short case: the child with hypertrophic cardiomyopathy
  • Long case: the child with dilated cardiomyopathy and heart failure
  • Cardiomyopathies
  • Cardiomyopathies in children: morphology, genetics, and management
  • Cardiac: heart failure and murmur in a child
  • Cardiology: cardiomyopathies
  • Patient Care: cardiomyopathy and heart failure in children
  • Medical Expert: paediatric cardiomyopathy
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  • Short-answer question1
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Target exams

RACP DWERACP DCEMRCPCH TheoryMRCPCH Clinical

Red flags

  • A child or adolescent with cardiomyopathy who has a syncope, pre-syncope, chest pain on exertion, or palpitations has presumed risk for sudden cardiac death until stratified — restrict from sport and refer urgently to a cardiologist for ECG, Holter and echocardiography
  • A first-degree relative of a patient with hypertrophic or arrhythmogenic cardiomyopathy must never be labelled 'reassured' on a normal echocardiogram alone — genotype-negative does not exclude disease, and genotype-positive phenotype-negative relatives need lifelong surveillance
  • Restrictive cardiomyopathy in a child carries the worst prognosis of all cardiomyopathy subtypes, with a high rate of sudden death and transplant; early transplant assessment is mandatory rather than prolonged medical therapy
  • Dilated cardiomyopathy presenting in infancy may be inborn errors of metabolism or a treatable supraventricular tachycardia (tachycardiomyopathy) — a sustained heart rate above 200 in a baby with poor function must have tachyarrhythmia actively excluded

Life stages

fetalneonateinfanttoddlerpreschoolschool-ageadolescentyoung-adult-transition

Care settings

preventive-medical-homeoutpatientwarded-acutenicupicu

Clinical exam formats

written-only

Board mappings

  • Cardiomyopathies in children
  • Paediatric cardiomyopathies: classification, genetics, and sudden cardiac death
  • Cardiomyopathy: classification, family screening, and management
  • Short case: the child with hypertrophic cardiomyopathy
  • Long case: the child with dilated cardiomyopathy and heart failure
  • Cardiomyopathies
  • Cardiomyopathies in children: morphology, genetics, and management
  • Cardiac: heart failure and murmur in a child
  • Cardiology: cardiomyopathies
  • Patient Care: cardiomyopathy and heart failure in children
  • Medical Expert: paediatric cardiomyopathy

Overview & Definition

A cardiomyopathy is a disease of the heart muscle in which the abnormality of structure or function is intrinsic to the myocardium itself, not the secondary consequence of hypertension, valve disease, or congenital obstruction. The 2006 American Heart Association scientific statement defined the cardiomyopathies as "a heterogeneous group of diseases of the myocardium associated with mechanical and/or electrical dysfunction", and the 2008 European Society of Cardiology position statement framed the same idea operationally: classify by morphology first, then ask what caused it. Together these two documents are the frame every fellowship candidate must reproduce when asked "what is a cardiomyopathy?" [2] [3]

In children the cardiomyopathies behave very differently from the adult disease. They are uncommon — the population incidence is roughly one per hundred thousand children per year — yet they are the single largest diagnosis group leading to paediatric heart transplantation, and sudden cardiac death in the young is dominated by occult cardiomyopathy. The clinical problem they pose is therefore not the volume of cases but the gravity of each one: a missed diagnosis is a child who collapses on the sports field, or an infant who presents in fulminant heart failure. [1] [6]

What is a paediatric cardiomyopathy and why does it matter?

A paediatric cardiomyopathy is an intrinsic disease of the heart muscle causing mechanical or electrical dysfunction, classified morphologically into dilated, hypertrophic, restrictive, left-ventricular non-compaction, and arrhythmogenic types. It is uncommon (incidence ~1 per 100 000 children per year) but it is the leading indication for paediatric heart transplant and a dominant cause of sudden cardiac death in the young, so the task is to recognise it early, screen the family, risk-stratify for sudden death, and treat heart failure — never to dismiss a heart murmur, an abnormal ECG, or a fainting child in a family with cardiac disease. [1] [2] [6]

The syncope-plus-family-history child

A child or adolescent with any syncope, exertional chest pain, palpitations, or a family history of sudden death who has — or is at risk of — cardiomyopathy must be regarded as a presumed sudden-cardiac-death risk until stratified. The combination of symptoms plus a family history of cardiomyopathy or unexplained sudden death is the highest-yield red flag in paediatric cardiology, and it mandates urgent ECG, echocardiography, Holter monitoring, and restriction from competitive sport pending assessment. [5] [6]

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References10ShowHide
  1. [1]Lipshultz SE; Sleeper LA; Towbin JA; Lowe AM; Orav EJ; Cox GF; et al The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med, 2003.PMID 12711739
  2. [2]Maron BJ; Towbin JA; Thiene G; Antzelevitch C; Corrado D; Arnett D; et al Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement. Circulation, 2006.PMID 16567565
  3. [3]Elliott P; Andersson B; Arbustini E; Bilinska Z; Cecchi F; Charron P; et al Classification of the cardiomyopathies: a position statement from the European Society Of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J, 2008.PMID 17916581
  4. [4]Maron BJ Hypertrophic cardiomyopathy: a systematic review. JAMA, 2002.PMID 11886323
  5. [5]Maron BJ; Shen WK; Link MS; Epstein AE; Almquist AK; Daubert JP; et al Efficacy of implantable cardioverter-defibrillators for the prevention of sudden death in patients with hypertrophic cardiomyopathy. N Engl J Med, 2000.PMID 10666426
  6. [6]Bagnall RD; Weintraub RG; Ingles J; Duflou J; Yeates L; Lam L; et al A Prospective Study of Sudden Cardiac Death among Children and Young Adults. N Engl J Med, 2016.PMID 27332903
  7. [7]Shaddy RE; Boucek MM; Hsu DT; Boucek RJ; Canter CE; Mahony L; et al Carvedilol for children and adolescents with heart failure: a randomized controlled trial. JAMA, 2007.PMID 17848651
  8. [8]Burkett EL; Hershberger RE Clinical and genetic issues in familial dilated cardiomyopathy. J Am Coll Cardiol, 2005.PMID 15808750
  9. [9]Alexander PMA; Nugent AW; Daubeney PEF; Lee KJ; Sleeper LA; Schuster T; et al Long-Term Outcomes of Hypertrophic Cardiomyopathy Diagnosed During Childhood: Results From a National Population-Based Study. Circulation, 2018.PMID 29490994
  10. [10]Shi WY; Moreno-Betancur M; Nugent AW; Cheung M; Colan S; Turner C; et al Long-Term Outcomes of Childhood Left Ventricular Noncompaction Cardiomyopathy: Results From a National Population-Based Study. Circulation, 2018.PMID 29514799

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