Aim: The aims of this thesis are to characterise the aetiology, mode of presentation, clinical features and natural history of idiopathic hypertrophic cardiomyopathy (HCM) in pre-adolescent children. Methods: One hundred and seventy-eight patients diagnosed with idiopathic HCM aged 13 years or younger underwent systematic clinical evaluation. Outcomes were recorded and survival analyses performed. Seventy-nine patients were screened for mutations in 9 sarcomere protein genes. Serum B-type natriuretic peptide (BNP) levels were measured in 39 patients and their relation to non-invasive markers of disease severity assessed. A novel paediatric cardiac symptom visual analogue score was developed to assess symptoms in young children. Results: The key findings of this thesis are: 1) Most pre-adolescent children with idiopathic HCM have sarcomere protein gene mutations, including 17% diagnosed in infancy; 2) children with HCM have objective evidence of functional limitation, including elevated serum BNP levels, which correlate with several markers of disease severity; 3) the annual rate of adverse cardiovascular events is 2.2% (sudden death rate 1.4%); 4) risk factors for poor outcome include sporadic disease, NYHA>2, severe LV hypertrophy and left atrial dilatation; 5) patients diagnosed in pre-adolescence are at increased risk of progression to LV systolic impairment. Conclusions: This thesis demonstrates that the aetiology and clinical features of pre-adolescent HCM are similar to those in adults. Prognosis during childhood is more benign than previously reported, but diagnosis in early life is associated with an increased risk of progression to end-stage disease. Objective measures of disease severity, including BNP levels, suggest that many children with HCM have substantial functional limitation
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