Prevalence and Evolution of Right Ventricular Dysfunction Among Different Genetic Backgrounds in Dilated...

Area of Science:

• Cardiology
• Genetics
• Heart Failure

Background:

• Dilated cardiomyopathy (DCM) is a heterogeneous heart muscle disease.
• Titin (TTN)-related DCM is linked to better left ventricular reverse remodeling.
• Data on right ventricular dysfunction (RVD) evolution in DCM based on genetic background are lacking.

Purpose of the Study:

• To investigate the evolution of RVD in DCM patients based on their genetic etiology.
• To compare RVD recovery and right ventricular fractional area change (RVFAC) in TTN-related DCM versus other genetic DCM.
• To assess the impact of RVD evolution on clinical outcomes.

Main Methods:

• Analysis of 104 DCM patients with confirmed genetic variants (51 TTN-related, 53 other) and 139 controls.
• RVD defined as RVFAC < 35%.
• Follow-up data at 12-24 months to track RVD and RVFAC changes.

Main Results:

• RVD was initially present in 29.1% of genetically positive DCM patients without significant differences between groups.
• At follow-up, only 5.9% of TTN-related DCM patients had residual RVD compared to 35.8% in other genetic DCM (P < 0.001).
• RVFAC significantly improved in TTN-related DCM but remained impaired in other genetic DCM cohorts.

Conclusions:

• The evolution of RVD in DCM is heterogeneous and depends on the genetic background.
• TTN-related DCM is associated with a significantly higher likelihood of RVD recovery compared to other genetic DCM etiologies.
• RVD evolution did not significantly impact the composite outcome measure after adjustment.