Risk Assessment and Personalized Treatment Options in Inherited Dilated Cardiomyopathies: A Narrative Review

Diana-Aurora Arnautu1,2, Dragos Cozma3, Ioan-Radu Lala4

  • 1Multidisciplinary Heart Research Center, Victor Babes University of Medicine and Pharmacy, 300041 Timisoara, Romania.

Biomedicines
|August 29, 2024
PubMed

Insights

Understanding genetic dilated cardiomyopathy (DCM) is key to improving heart failure outcomes. Identifying genetic variants aids in risk assessment and personalized treatment strategies for patients and families.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology
  • Genomic Medicine

Background:

  • Heart failure, particularly dilated cardiomyopathy (DCM), poses a significant global health burden.
  • DCM, the most common cardiomyopathy, involves ventricular enlargement and reduced contractility, with complex genetic and non-genetic origins.
  • Advances in understanding the molecular mechanisms of DCM are crucial for developing effective interventions.

Purpose of the Study:

  • To highlight the importance of identifying genetic causes of DCM.
  • To explore genotype-phenotype correlations and risk stratification in hereditary DCM.
  • To emphasize the potential of personalized, genotype-guided therapy for DCM.

Main Methods:

  • Review of current literature on genetic variants in DCM.
  • Analysis of genotype-phenotype relationships in familial and sporadic DCM.
  • Discussion of the role of genetic testing in patient selection and family screening.

Main Results:

  • Genetic variants are significant contributors to DCM etiology and susceptibility.
  • DCM exhibits a wide spectrum of phenotypic variability influenced by genetic factors.
  • Genetic testing can identify individuals who may benefit from targeted interventions.

Conclusions:

  • Identifying genetic DCM is essential for accurate diagnosis and prognosis.
  • Understanding genetic underpinnings facilitates personalized risk assessment and management strategies.
  • Genotype-guided treatment approaches and disease-modifying medications hold promise for improving DCM outcomes.

Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
12.7K
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase01:11

Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase

Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...
84
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
2.0K
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
1.5K