Genetic Characterization of Dilated Cardiomyopathy in Romanian Adult Patients

Area of Science:

• Cardiology
• Genetics
• Molecular Biology

Background:

• Dilated cardiomyopathy (DCM) is a heart muscle disorder with significant risk of heart failure and sudden cardiac death (SCD).
• Genetic factors frequently underlie DCM, making genetic testing crucial for patient management and family screening.
• There is a lack of data on the genetic causes of DCM within the Romanian population.

Purpose of the Study:

• To investigate the genetic etiology of dilated cardiomyopathy in adult Romanian patients.
• To identify specific disease-causing variants and affected genes in the Romanian DCM cohort.
• To establish genotype-phenotype correlations within this population.

Main Methods:

• Next-generation sequencing panels targeting known DCM genes were employed.
• Genetic testing was performed on 122 adult patients diagnosed with DCM across Romanian tertiary referral centers.
• Clinical data, including family history and cardiac function, were collected and analyzed alongside genetic findings.

Main Results:

• Pathogenic or likely pathogenic variants were identified in 50.8% of the DCM patients studied.
• Variants in TTN, LMNA, and DSP genes accounted for 75% of the identified genetic causes.
• Thirty-one novel variants were discovered, underscoring the genetic heterogeneity of DCM.

Conclusions:

• Genetic testing is highly valuable, revealing a substantial disease-causing variant frequency in Romanian DCM patients.
• The study elucidates the genetic landscape of DCM in Romania, identifying key implicated genes.
• Findings support the routine integration of genetic investigations for DCM diagnosis and management in Romania.