Gabrielle Norrish, Ella Field, Karen Mcleod, Maria Ilina, Graham Stuart, Vinay Bhole, Orhan Uzun, Elspeth Brown, Piers E F Daubeney, Amrit Lota, Katie Linter, Sujeev Mathur, Tara Bharucha, Khoon Li Kok, Satish Adwani, Caroline B Jones, Zdenka Reinhardt, Juan Pablo Kaski; European Heart Journal, Volume 40, Issue 12, 21 March 2019, Pages 986–993, doi:10.1093/eurheartj/ehy798
This study describes the clinical characteristics and outcomes of childhood HCM over four decades in a well-characterized United Kingdom cohort.
Aetiology was: non-syndromic (n = 433, 63%), RASopathy (n = 126, 18.3%), Friedreich’s ataxia (n = 59, 8.6%) or inborn errors of metabolism (IEM) (n = 64, 9%). In infants (n = 159, 23%) underlying aetiology was more commonly a RASopathy (42% vs. 11.2%, P < 0.0001) or IEM (18.9% vs. 6.4% P < 0.0001)
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