Childhood Hypertrophic Cardiomyopathy Caused by Beta-Myosin Heavy Chain Variants Is Associated With a More Obstructive but Less Arrhythmogenic Phenotype Than Myosin-Binding Protein C Disease

Norrish, Gabrielle; Kadirrajah, Vidthya; Field, Ella; Dady, Kathleen; Tollit, Jennifer; McLeod, Karen; McGowan, Ruth; Cervi, Elena; Kaski, Juan Pablo

doi:10.1161/circgen.123.004118

Circ: Genomic and Precision Medicine

2023

DOI: 10.1161/circgen.123.004118

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Childhood Hypertrophic Cardiomyopathy Caused by Beta-Myosin Heavy Chain Variants Is Associated With a More Obstructive but Less Arrhythmogenic Phenotype Than Myosin-Binding Protein C Disease

Gabrielle Norrish,

Vidthya Kadirrajah,

Ella Field

et al.

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2024

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Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants

Norrish,

Gasparini,

Field

et al. 2024

J Med Genet

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Up to 20% of children with sarcomeric hypertrophic cardiomyopathy (HCM) have disease-causing variants in genes coding for thin-filament proteins. However, data on genotype-phenotype correlations for thin-filament disease are limited. This study describes the natural history and outcomes of children with thin-filament-associated HCM and compares it to thick-filament-associated disease.Longitudinal data were collected from 40 children under 18 years with a disease-causing variant in a thin-filament protein from a single quaternary referral centre. Twenty-one (female n=6, 35.5%) were diagnosed with HCM at a median age of 13.0 years (IQR 8.3–14.0). Over a median follow-up of 5.0 years (IQR 4.0–8.5), three (14.3%) experienced one or more major adverse cardiac events (MACE) (two patients had an out-of-hospital arrest and eight appropriate implantable cardiac defibrillator (ICD) therapies in three patients). One gene carrier died suddenly at age 9 years. Compared with those with thick-filament disease, children with thin-filament variants more commonly experienced non-sustained ventricular tachycardia [NSVT; n=6 (28.6%) vs n=14 (10.8%), p=0.024] or underwent ICD insertion (thin, n=13 (61.9%) vs thick, n=50 (38.5%), p=0.040). However, there was no difference in the incidence of MACE (thin 2.47/100 pt years (95% CI 0.80 to 7.66) vs thick 3.63/100 pt years (95% CI 2.25 to 5.84)) or an arrhythmic event (thin 1.65/100 pt years (95% CI 0.41 to 6.58) vs thick 2.55/100 pt years (95% CI 1.45 to 4.48), p value 0.43).This study suggests that adverse events in thin-filament disease are predominantly arrhythmic and may occur in the absence of hypertrophy, but overall short-term outcomes do not differ significantly from thick-filament disease.

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Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants

Norrish,

Gasparini,

Field

et al. 2024

J Med Genet

Self Cite

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Childhood Hypertrophic Cardiomyopathy Caused by Beta-Myosin Heavy Chain Variants Is Associated With a More Obstructive but Less Arrhythmogenic Phenotype Than Myosin-Binding Protein C Disease

Cited by 1 publication

References 5 publications

Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants

Childhood-onset hypertrophic cardiomyopathy caused by thin-filament sarcomeric variants

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