The Importance of Sex Differences in Patients With Hypertrophic Cardiomyopathy – Tailoring Management and Future Perspectives

Fumagalli, Carlo; Olivotto, Iacopo

doi:10.1016/j.amjms.2020.07.004

Cited by 4 publications

(2 citation statements)

References 12 publications

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“…Consistently with different penetrance [ 80 , 81 ] women are usually older at the time of diagnosis [ 82 , 83 ]. Women are also known to have a higher prevalence of the obstructive phenotype, worse diastolic function, and more severe heart failure symptoms at presentation [ 82 , 84 ]. Increased overall mortality [ 82 ] and worse outcomes after septal reduction therapy [ 79 , 85 , 86 ] were also described.…”

Section: Genotype and Phenotype Correlationmentioning

confidence: 99%

Genetic Testing in Patients with Hypertrophic Cardiomyopathy

Bonaventura

Poláková

Vejtasová

et al. 2021

IJMS

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Hypertrophic cardiomyopathy (HCM) is a common inherited heart disease with an estimated prevalence of up to 1 in 200 individuals. In the majority of cases, HCM is considered a Mendelian disease, with mainly autosomal dominant inheritance. Most pathogenic variants are usually detected in genes for sarcomeric proteins. Nowadays, the genetic basis of HCM is believed to be rather complex. Thousands of mutations in more than 60 genes have been described in association with HCM. Nevertheless, screening large numbers of genes results in the identification of many genetic variants of uncertain significance and makes the interpretation of the results difficult. Patients lacking a pathogenic variant are now believed to have non-Mendelian HCM and probably have a better prognosis than patients with sarcomeric pathogenic mutations. Identifying the genetic basis of HCM creates remarkable opportunities to understand how the disease develops, and by extension, how to disrupt the disease progression in the future. The aim of this review is to discuss the brief history and recent advances in the genetics of HCM and the application of molecular genetic testing into common clinical practice.

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Section: Genotype and Phenotype Correlationmentioning

confidence: 99%

Genetic Testing in Patients with Hypertrophic Cardiomyopathy

Bonaventura

Poláková

Vejtasová

et al. 2021

IJMS

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“…Personalizing therapy: treatment strategies often need tailoring based on the specific mutations identified or the potential application of gene therapy methods [24].…”

mentioning

confidence: 99%

The Role of Genetics in the Management of Heart Failure Patients

Palmieri,

D’Ambrosio,

Correale

et al. 2023

IJMS

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Over the last decades, the relevance of genetics in cardiovascular diseases has expanded, especially in the context of cardiomyopathies. Its relevance extends to the management of patients diagnosed with heart failure (HF), given its capacity to provide invaluable insights into the etiology of cardiomyopathies and identify individuals at a heightened risk of poor outcomes. Notably, the identification of an etiological genetic variant necessitates a comprehensive evaluation of the family lineage of the affected patients. In the future, these genetic variants hold potential as therapeutic targets with the capability to modify gene expression. In this complex setting, collaboration among cardiologists, specifically those specializing in cardiomyopathies and HF, and geneticists becomes paramount to improving individual and family health outcomes, as well as therapeutic clinical results. This review is intended to offer geneticists and cardiologists an updated perspective on the value of genetic research in HF and its implications in clinical practice.

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