{"title":"[成人心力衰竭的遗传原因]。","authors":"Brenda Gerull","doi":"10.1055/a-2304-7182","DOIUrl":null,"url":null,"abstract":"<p><p>Genetic factors play a pivotal role in personalized care for heart failure. This article explores hereditary cardiomyopathies, a heterogeneous group of genetic heart muscle disorders, representing a major cause of heart failure. They are classified into distinct clinical phenotypes: hypertrophic (HCM), dilated (DCM), non-dilated left ventricular (NDLVC), arrhythmogenic right ventricular (ARVC), and restrictive cardiomyopathy (RCM). Diagnosis integrates a multiparametric approach, including clinical evaluation, electrocardiography, advanced imaging, and genetic testing. Genetic counselling and testing are recommended for precise subtyping, prognosis, and therapy guidance. Family cascade screening is critical due to variable penetrance and age-dependent clinical expression, identifying asymptomatic carriers and reducing follow-up burden in low-risk relatives. High-risk genotypes require individualized risk stratification, particularly for life-threatening arrhythmias and sudden cardiac death. Emerging genotype-specific strategies are advancing precision medicine.</p>","PeriodicalId":93975,"journal":{"name":"Deutsche medizinische Wochenschrift (1946)","volume":"150 14","pages":"831-844"},"PeriodicalIF":0.0000,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"[Genetic Causes of Heart Failure in Adults].\",\"authors\":\"Brenda Gerull\",\"doi\":\"10.1055/a-2304-7182\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p>Genetic factors play a pivotal role in personalized care for heart failure. This article explores hereditary cardiomyopathies, a heterogeneous group of genetic heart muscle disorders, representing a major cause of heart failure. They are classified into distinct clinical phenotypes: hypertrophic (HCM), dilated (DCM), non-dilated left ventricular (NDLVC), arrhythmogenic right ventricular (ARVC), and restrictive cardiomyopathy (RCM). Diagnosis integrates a multiparametric approach, including clinical evaluation, electrocardiography, advanced imaging, and genetic testing. Genetic counselling and testing are recommended for precise subtyping, prognosis, and therapy guidance. Family cascade screening is critical due to variable penetrance and age-dependent clinical expression, identifying asymptomatic carriers and reducing follow-up burden in low-risk relatives. High-risk genotypes require individualized risk stratification, particularly for life-threatening arrhythmias and sudden cardiac death. Emerging genotype-specific strategies are advancing precision medicine.</p>\",\"PeriodicalId\":93975,\"journal\":{\"name\":\"Deutsche medizinische Wochenschrift (1946)\",\"volume\":\"150 14\",\"pages\":\"831-844\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-07-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Deutsche medizinische Wochenschrift (1946)\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.1055/a-2304-7182\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2025/6/25 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Deutsche medizinische Wochenschrift (1946)","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/a-2304-7182","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2025/6/25 0:00:00","PubModel":"Epub","JCR":"","JCRName":"","Score":null,"Total":0}
Genetic factors play a pivotal role in personalized care for heart failure. This article explores hereditary cardiomyopathies, a heterogeneous group of genetic heart muscle disorders, representing a major cause of heart failure. They are classified into distinct clinical phenotypes: hypertrophic (HCM), dilated (DCM), non-dilated left ventricular (NDLVC), arrhythmogenic right ventricular (ARVC), and restrictive cardiomyopathy (RCM). Diagnosis integrates a multiparametric approach, including clinical evaluation, electrocardiography, advanced imaging, and genetic testing. Genetic counselling and testing are recommended for precise subtyping, prognosis, and therapy guidance. Family cascade screening is critical due to variable penetrance and age-dependent clinical expression, identifying asymptomatic carriers and reducing follow-up burden in low-risk relatives. High-risk genotypes require individualized risk stratification, particularly for life-threatening arrhythmias and sudden cardiac death. Emerging genotype-specific strategies are advancing precision medicine.