Publications by authors named "Hannah Fell"
mutations have been reported in association with sick sinus syndrome. A more complex phenotype, including noncompaction cardiomyopathy and aortic dilatation, has recently emerged. We report 3 family members with the pathogenic p.
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- Variants in the cardiac myosin-binding protein C gene are a significant cause of hypertrophic cardiomyopathy (HCM) in children, with 62 patients studied showing varying clinical outcomes.
- The study followed these patients, finding a 14.5% rate of major adverse cardiac events (MACE) and an 8% mortality rate, with a notable portion experiencing life-threatening ventricular arrhythmias.
- Results indicate that children with one or two P/LP variants have different risks for MACE, underscoring the need for tailored clinical management based on specific genetic subtypes in childhood HCM.
Background: Hypertrophic cardiomyopathy (HCM) is a heritable myocardial disease with age-related penetrance. Current guidelines recommend clinical screening of relatives beginning at 10 years of age, but the clinical value of this approach has not been systematically evaluated.
Methods: Anonymized clinical data were collected from children referred for family screening between 1994 and 2017 after diagnosis of HCM in a first-degree relative.