UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Clinical and genetic characterisation of pre-adolescent hypertrophic cardiomyopathy

Kaski, J.P.; (2010) Clinical and genetic characterisation of pre-adolescent hypertrophic cardiomyopathy. Doctoral thesis , UCL (University College London).

Full text not available from this repository.


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.

Type: Thesis (Doctoral)
Title: Clinical and genetic characterisation of pre-adolescent hypertrophic cardiomyopathy
Language: English
Additional information: Permission for digitisation not received
UCL classification:
URI: https://discovery.ucl.ac.uk/id/eprint/20226
Downloads since deposit
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item