Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

Norrish, Gabrielle; Cleary, Aoife; Field, Ella; Cervi, Elena; Boleti, Olga; Ziółkowska, Lidia; Olivotto, Iacopo; Khraiche, Diala; Limongelli, Giuseppe; Anastasakis, Aris; Weintraub, Robert G.; Biagini, Elena; Ragni, Luca; Prendiville, Terence; Duignan, Sophie; McLeod, Karen; Ilina, Maria; Fernández, Adrián; Marrone, Chiara; Bökenkamp, Regina; Baban, Anwar; Kubuš, Peter; Daubeney, Piers E.F.; Sarquella‐Brugada, Georgia; César, Sergi; Klaassen, Sabine; Ojala, Tiina; Bhole, Vinay; Medrano, Constancio; Uzun, Orhan; Brown, Elspeth; Gran, Ferrán; Sinagra, Gianfranco; Castro, Francisco J.; Stuart, Graham; Yamazawa, Hirokuni; Barriales‐Villa, Roberto; García-Guereta, Luis; Adwani, Satish; Linter, Katie; Bharucha, Tara; Gonzales-Lopez, Esther; Siles, Ana; Rasmussen, Torsten Bloch; Calcagnino, Margherita; Jones, Caroline B.; Wilde, Hans De; Kubo, Toru; Felice, Tiziana; Popoiu, Anca; Mathur, Sujeev; Centeno, Fernando; Reinhardt, Zdenka; Schouvey, Sylvie; Elliott, Perry; Kaski, Juan Pablo

doi:10.1016/j.jacc.2022.03.347

Cited by 26 publications

(13 citation statements)

References 41 publications

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“…This risk increased markedly to a hazard ratio of 7.4 in a younger population (mean age 9.8 years) with a history of unexplained syncope within previous 6 months [10]. Even if the prevalence of unexplained syncope is lower (6.1%) in preadolescent population (age < 12 years), the longterm outcome did not differ by age of presentation [13]. All the abovecited articles did not provide a definition of unexplained syncope.…”

Section: Syncope In Paediatric Hcmmentioning

confidence: 97%

Syncope in hypertrophic cardiomyopathy (part II): An expert consensus statement on the diagnosis and management

Brignole

Cecchi²,

Anastasakis³

et al. 2023

International Journal of Cardiology

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Section: Syncope In Paediatric Hcmmentioning

confidence: 97%

Syncope in hypertrophic cardiomyopathy (part II): An expert consensus statement on the diagnosis and management

Brignole

Cecchi²,

Anastasakis³

et al. 2023

International Journal of Cardiology

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“…The underlying aetiology of childhood-onset hypertrophic cardiomyopathy is heterogeneous, including malformation syndromes, inborn errors of metabolism and neuromuscular disease, but most cases, even in very young children, are caused by variants in one or more cardiac sarcomere protein genes. [5][6][7][8][9] Sudden cardiac death is the most common cause of death during childhood and adolescence 6,10,11 and identifying those individuals with hypertrophic cardiomyopathy at highest risk of sudden cardiac death is a major aspect of clinical care in childhood hypertrophic cardiomyopathy. Early studies in small, highly selected childhood cohorts reported an annual incidence of sudden cardiac death of up to 7%, 12,13 but more recent data from larger population-based studies have shown sudden cardiac death rates between 0.8 and 2% per year, 10,14-16 much lower than the initial reports but nevertheless substantially higher than those seen in adults with…”

mentioning

confidence: 99%

Indications and management of implantable cardioverter-defibrillator therapy in childhood hypertrophic cardiomyopathy

et al. 2023

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Sudden cardiac death is the most common mode of death during childhood and adolescence in hypertrophic cardiomyopathy, and identifying those individuals at highest risk is a major aspect of clinical care. The mainstay of preventative therapy is the implantable cardioverter-defibrillator, which has been shown to be effective at terminating malignant ventricular arrhythmias in children with hypertrophic cardiomyopathy but can be associated with substantial morbidity. Accurate identification of those children at highest risk who would benefit most from implantable cardioverter-defibrillator implantation while minimising the risk of complications is, therefore, essential. This position statement, on behalf of the Association for European Paediatric and Congenital Cardiology (AEPC), reviews the currently available data on established and proposed risk factors for sudden cardiac death in childhood-onset hypertrophic cardiomyopathy and current approaches for risk stratification in this population. It also provides guidance on identification of individuals at risk of sudden cardiac death and optimal management of implantable cardioverter-defibrillators in children and adolescents with hypertrophic cardiomyopathy.

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“…In particular, male sex and an abnormal ECG were found to be associated with a higher risk of developing HCM ( 26 ), and combining these clinical presentations with genetic screening is expected to lead to earlier diagnosis of HCM. Because early-onset HCM cases present with early cardiac hypertrophy, left ventricular outflow tract obstruction, and fatal arrhythmia ( 27 ), familial genetic screening for presymptomatic diagnosis of cardiomyopathy is expected to advance in the future.…”

Section: Introductionmentioning

confidence: 99%

Precision and genomic medicine for dilated and hypertrophic cardiomyopathy

Nomura

Ōno²

2023

Front. Cardiovasc. Med.

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Cardiomyopathy develops through an interaction of genetic and environmental factors. The clinical manifestations of both dilated cardiomyopathy and hypertrophic cardiomyopathy are diverse, but genetic testing defines the causative genes in about half of cases and can predict clinical prognosis. It has become clear that cardiomyopathy is caused not only by single rare variants but also by combinations of multiple common variants, and genome-wide genetic research is important for accurate disease risk assessment. Single-cell analysis research aimed at understanding the pathophysiology of cardiomyopathy is progressing rapidly, and it is expected that genomic analysis and single-cell molecular profiling will be combined to contribute to more detailed stratification of cardiomyopathy.

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Clinical Features and Natural History of Preadolescent Nonsyndromic Hypertrophic Cardiomyopathy

Cited by 26 publications

References 41 publications

Syncope in hypertrophic cardiomyopathy (part II): An expert consensus statement on the diagnosis and management

Syncope in hypertrophic cardiomyopathy (part II): An expert consensus statement on the diagnosis and management

Indications and management of implantable cardioverter-defibrillator therapy in childhood hypertrophic cardiomyopathy

Precision and genomic medicine for dilated and hypertrophic cardiomyopathy

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