Associations between female sex, sarcomere variants, and clinical outcomes in hypertrophic cardiomyopathy

NK Lakdawala, I Olivotto, SM Day, L Han… - Circulation: Genomic …, 2021 - Am Heart Assoc
Background: The impact of sex on phenotypic expression in hypertrophic cardiomyopathy
(HCM) has not been well characterized in genotyped cohorts. Methods: Retrospective cohort …

Cardiac myosin inhibitors as a novel treatment option for obstructive hypertrophic cardiomyopathy: addressing the core of the matter

A Masri, I Olivotto - Journal of the American Heart Association, 2022 - Am Heart Assoc
The modern perception of hypertrophic cardio-myopathy (HCM), matured over the past 6
decades, is that of a common, genetically diverse, multi-faceted disease. The meticulous …

Establishment of specialized clinical cardiovascular genetics programs: recognizing the need and meeting standards: a scientific statement from the American Heart …

F Ahmad, EM McNally, MJ Ackerman… - Circulation: Genomic …, 2019 - Am Heart Assoc
Cardiovascular genetics is a rapidly evolving subspecialty within cardiovascular medicine,
and its growth is attributed to advances in genome sequencing and genetic testing and the …

[HTML][HTML] Effects of MYBPC3 loss-of-function mutations preceding hypertrophic cardiomyopathy

AS Helms, VT Tang, TS O'Leary, S Friedline… - JCI insight, 2020 - ncbi.nlm.nih.gov
Mutations in cardiac myosin binding protein C (MyBP-C, encoded by MYBPC3) are the most
common cause of hypertrophic cardiomyopathy (HCM). Most MYBPC3 mutations result in …

Sex differences in hypertrophic cardiomyopathy: interaction with genetics and environment

A Butters, NK Lakdawala, J Ingles - Current heart failure reports, 2021 - Springer
Abstract Purpose of Review We explore the sex-specific interaction of genetics and the
environment on the clinical course and outcomes of hypertrophic cardiomyopathy (HCM) …

External validation of the HCM Risk-Kids model for predicting sudden cardiac death in childhood hypertrophic cardiomyopathy

G Norrish, C Qu, E Field, E Cervi… - European journal of …, 2022 - academic.oup.com
Aims Sudden cardiac death (SCD) is the most common mode of death in childhood
hypertrophic cardiomyopathy (HCM). The newly developed HCM Risk-Kids model provides …

Temporal trend of age at diagnosis in hypertrophic cardiomyopathy: an analysis of the international sarcomeric human cardiomyopathy registry

M Canepa, C Fumagalli, G Tini… - Circulation: Heart …, 2020 - Am Heart Assoc
Background: Over the last 50 years, the epidemiology of hypertrophic cardiomyopathy
(HCM) has changed because of increased awareness and availability of advanced …

Mortality among referral patients with hypertrophic cardiomyopathy vs the general European population

M Lorenzini, Z Anastasiou, C O'Mahony… - JAMA …, 2020 - jamanetwork.com
Importance It is unclear whether hypertrophic cardiomyopathy (HCM) conveys excess
mortality when compared with the general population. Objective To compare the survival of …

Contemporary insights into the genetics of hypertrophic cardiomyopathy: toward a new era in clinical testing?

F Mazzarotto, I Olivotto, B Boschi… - Journal of the …, 2020 - Am Heart Assoc
Genetic testing for hypertrophic cardiomyopathy (HCM) is an established clinical technique,
supported by 30 years of research into its genetic etiology. Although pathogenic variants are …

Study design and rationale of EXPLORER-HCM: evaluation of mavacamten in adults with symptomatic obstructive hypertrophic cardiomyopathy

CY Ho, I Olivotto, D Jacoby, SJ Lester… - Circulation: Heart …, 2020 - Am Heart Assoc
Background: Obstructive hypertrophic cardiomyopathy (oHCM) is characterized by
unexplained left ventricular (LV) hypertrophy associated with dynamic LV outflow tract …