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4 Clinical features and outcomes of childhood hypertrophic cardiomyopathy: a retrospective study in the united kingdom
  1. G Norrish1,2,
  2. E Field1,2,
  3. International Paediatric Hypertrophic Cardiomyopathy Consortium,
  4. JP Kaski1,2
  1. 1Great Ormond Street Hospital, London UK
  2. 2UCL Institute of Cardiovascular science, London, UK


Purpose Describe the clinical features and outcomes of Childhood Hypertrophic Cardiomyopathy (HCM) in a national cohort.

Methods A retrospective, multi-centre cohort of children diagnosed with HCM in the United Kingdom (UK) since 1980 was formed from 12 paediatric cardiac centres. Anonymised, non-invasive clinical data were collected.

Results 705 patients with childhood HCM were identified with a median age at presentation of 5 years (range 0–16). 21% (n=149) of patients presented during infancy. The underlying aetiology was varied including idiopathic (n=450, 63.8%), Noonan’s syndrome (n-121, 17.2%), Friedreich’s ataxia (n=60, 8.5%) and inborn errors of metabolism (n=63, 8.9%). Those presenting under 1 year of age were more likely to have a diagnosis of Noonan’s syndrome (39% vs 11.3%, p=0.000*) or inborn error of metabolism (18% vs 0.9% p=0.000*).

The majority of patients were asymptomatic, in NYHA/Ross class I at presentation (n=535, 76%), however heart failure symptoms were more common in infants (13% vs 3%, p=0.000*). A history of unexplained syncope (n=41, 5.8%) or previous aborted cardiac arrest (n=14, 3.4%) was uncommon.

Overall the prognosis was good, survival without death or transplant was 91.7% (93.7–96.8) at 5 years. Children diagnosed during infancy or with an inborn error of metabolism had a worse prognosis with a survival of 81% and 82% at 1 year respectively.

Conclusion This national study of childhood HCM describes a heterogeneous cohort whose outcomes are dependent on underlying aetiology and age of presentation. Further studies are needed to systematically investigate risk factors for prognosis in this patient group.

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