Characteristics and outcomes associated with sarcomere mutations in patients with hypertrophic cardiomyopathy: A systematic review and meta-analysis

Background and Aims Hypertrophic cardiomyopathy (HCM), the most common inherited cardiomyopathy, is characterized by phenotypic and genetic heterogeneity. The present study describes the genotype data of a Swedish cohort of patients with HCM, the largest genetics study on Swedish HCM patients to date. The primary aims of this study were to unravel the main genetic findings and explore genotype-phenotype associations in this HCM cohort. Methods and Results: Longitudinal data on 225 unrelated HCM index patients from the Southeast health care region in Sweden from 2010 until 2021 were assessed retrospectively. Patients were 46 ± 15.5 years-old, 67.6% males. In the cohort, 172/225 (76.4%) had genetic testing, of whom, 65/172 (38%) were considered genotype positive (G+) for a pathogenic/ likely pathogenic variant, mainly in the two most common sarcomeric genes: MYBPC3 (57%) and MYH7 (34%). In 43% (74/172) of patients no pathogenic variant was detected. Genotype positive patients (G+) were characterized by younger age (p = 0.010), higher prevalence of family history of HCM (p < 0.001), greater maximum left ventricle wall thickness (p=0.03) and an increased incidence of sudden cardiac death (SCD) (p=0.045). At first clinical screening, HCM was diagnosed in 28/65(43%) in the G+ families and in 2/74 (2.7%) G-families (p<0.001). Conclusion: Genotype-positive HCM patients differ with respect to age at presentation, family history of the disease, morphology, incidence of SCD and presence of HCM in their family members at first clinical assessment from genotype-negative patients. Genotype negative status in this HCM cohort, though, did not confer immunity from adverse complications.

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The Health of Female Astronauts

Fernandes,

Almeida,

de Oliveira

et al. 2024

Advances in Medical Diagnosis, Treatment, and Care

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There is vast scientific literature on the physiological changes astronauts experience during space travel. However, there is a gap in female astronauts' health risks. This gap has gradually been filled with the increase in missions in which women participate, even though they are subject to increased risks compared to men due to the lack of well-tested parameters. This chapter aims to map the breadth of evidence available on the correlation between female health susceptibility on Earth and the increased risk in space. We discuss the results of a systematic scoping review we performed for articles relevant to gender and health risks in space. Diseases associated with oxidative stress and inflammation are the risks in women astronauts. Researching and better understanding the relationships between these risks and the space environment is essential to designing new ways to support women's lives on space missions. This knowledge can also contribute to new therapeutic strategies for women on Earth.

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Characteristics and outcomes associated with sarcomere mutations in patients with hypertrophic cardiomyopathy: A systematic review and meta-analysis

Cited by 3 publications

References 42 publications

Sarcomere gene mutations in hypertrophic cardiomyopathy: how to clinically manage this information?

Sarcomere gene mutations in hypertrophic cardiomyopathy: how to clinically manage this information?

Genetic determinants of the phenotype in a Swedish cohort of patients with hypertrophic cardiomyopathy

The Health of Female Astronauts

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