Dataset Information

Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study.

ABSTRACT:

Aims

Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype, and outcomes of infantile HCM in a well-characterized multicentre European cohort.

Methods and results

Of 301 children diagnosed with infantile HCM between 1987 and 2019 presenting to 17 European centres [male n = 187 (62.1%)], underlying aetiology was non-syndromic (n = 138, 45.6%), RASopathy (n = 101, 33.6%), or inborn error of metabolism (IEM) (n = 49, 16.3%). The most common reasons for presentation were symptoms (n = 77, 29.3%), which were more prevalent in those with syndromic disease (n = 62, 61.4%, P < 0.001), and an isolated murmur (n = 75, 28.5%). One hundred and sixty-one (53.5%) had one or more co-morbidities. Genetic testing was performed in 163 (54.2%) patients, with a disease-causing variant identified in 115 (70.6%). Over median follow-up of 4.1 years, 50 (16.6%) underwent one or more surgical interventions; 15 (5.0%) had an arrhythmic event (6 in the first year of life); and 48 (15.9%) died, with an overall 5 year survival of 85%. Predictors of all-cause mortality were an underlying diagnosis of IEM [hazard ratio (HR) 4.4, P = 0.070], cardiac symptoms (HR 3.2, P = 0.005), and impaired left ventricular systolic function (HR 3.0, P = 0.028).

Conclusions

This large, multicentre study of infantile HCM describes a complex cohort of patients with a diverse phenotypic spectrum and clinical course. Although overall outcomes were poor, this was largely related to underlying aetiology emphasizing the importance of comprehensive aetiological investigations, including genetic testing, in infantile HCM.

SUBMITTER: Norrish G

PROVIDER: S-EPMC8712843 | biostudies-literature | 2021 Dec

REPOSITORIES: biostudies-literature

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Publications

Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study.

Norrish Gabrielle G Kolt Gali G Cervi Elena E Field Ella E Dady Kathleen K Ziółkowska Lidia L Olivotto Iacopo I Favilli Silvia S Passantino Silvia S Limongelli Giuseppe G Caiazza Martina M Rubino Marta M Baban Anwar A Drago Fabrizio F Mcleod Karen K Ilina Maria M McGowan Ruth R Stuart Graham G Bhole Vinay V Uzun Orhan O Wong Amos A Lazarou Laz L Brown Elspeth E Daubeney Piers E F PEF Lota Amrit A Delle Donne Grazia G Linter Katie K Mathur Sujeev S Bharucha Tara T Adwani Satish S Searle Jon J Popoiu Anca A Jones Caroline B CB Reinhardt Zdenka Z Kaski Juan Pablo JP

ESC heart failure 20210906 6

<h4>Aims</h4>Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype, and outcomes of infantile HCM in a well-characterized multicentre European cohort.<h4>Methods and results</h4>Of 301 children diagnosed with infantile HCM between 1987 and 2019 presenting to 17 European centres [male n = 187 (62.1%)], underlying aetio ...[more]

PMID: 34486247

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Dataset Information

Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study.

Aims

Methods and results

Conclusions

Publications

Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study.

Similar Datasets

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