Prognosis of patients with familial hypertrophic cardiomyopathy: A single-center cohort study with ten-year follow-up by propensity score matching analysis

He, Yang; Chen, Yu; Zhou, Ling; Zhang, Hongmei; Ma, Huihui; Liu, Mingjiang; Tao, Jianhong; Hua, Wei; Liu, Tianhu; Li, Xiaoping

doi:10.1016/j.heliyon.2023.e17629

Cited by 1 publication

(1 citation statement)

References 32 publications

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“…One study examining the significance of multiple rare variants in 758 HCM patients revealed that those who carried multiple variants had worse all-cause mortality rates [ 67 ]. A single-center retrospective cohort study including 1243 patients with HCM (125 of them with familial HCM) revealed that a positive genetic test was an independent prognostic factor for cardiovascular mortality and cardiac transplantation in HCM patients [ 68 ]. Moreover, some studies have suggested that genetic heterogeneity underlies the variability in phenotype and severity of the disease, as disease course and outcomes differ depending on the implicated genes and even on the variant in the same gene [ 32 ].…”

Section: Role Of Genetic Testing In Predicting Prognosis and Guiding ...mentioning

confidence: 99%

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future

Abbas,

Baba Ali,

Farina

et al. 2024

Biomedicines

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Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy. It follows an autosomal dominant inheritance pattern in most cases, with incomplete penetrance and heterogeneity. It is familial in 60% of cases and most of these are caused by pathogenic variants in the core sarcomeric genes (MYH7, MYBPC3, TNNT2, TNNI3, MYL2, MYL3, TPM1, ACTC1). Genetic testing using targeted disease-specific panels that utilize next-generation sequencing (NGS) and include sarcomeric genes with the strongest evidence of association and syndrome-associated genes is highly recommended for every HCM patient to confirm the diagnosis, identify the molecular etiology, and guide screening and management. The yield of genetic testing for a disease-causing variant is 30% in sporadic cases and up to 60% in familial cases and in younger patients with typical asymmetrical septal hypertrophy. Genetic testing remains challenging in the interpretation of results and classification of variants. Therefore, in 2015 the American College of Medical Genetics and Genomics (ACMG) established guidelines to classify and interpret the variants with an emphasis on the necessity of periodic reassessment of variant classification as genetic knowledge rapidly expands. The current guidelines recommend focused cascade genetic testing regardless of age in phenotype-negative first-degree relatives if a variant with decisive evidence of pathogenicity has been identified in the proband. Genetic test results in family members guide longitudinal clinical surveillance. At present, there is emerging evidence for genetic test application in risk stratification and management but its implementation into clinical practice needs further study. Promising fields such as gene therapy and implementation of artificial intelligence in the diagnosis of HCM are emerging and paving the way for more effective screening and management, but many challenges and obstacles need to be overcome before establishing the practical implications of these new methods.

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Section: Role Of Genetic Testing In Predicting Prognosis and Guiding ...mentioning

confidence: 99%

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future

Abbas,

Baba Ali,

Farina

et al. 2024

Biomedicines

View full text Add to dashboard Cite

show abstract

Prognosis of patients with familial hypertrophic cardiomyopathy: A single-center cohort study with ten-year follow-up by propensity score matching analysis

Cited by 1 publication

References 32 publications

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future

Role of Genetics in Diagnosis and Management of Hypertrophic Cardiomyopathy: A Glimpse into the Future

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