Left ventricular 2D speckle tracking echocardiography for detection of systolic dysfunction in genetic, dilated

Pieter van der Bijl1, Marianne Bootsma1, Yasmine L Hiemstra1

  • 1Department of Cardiology, Heart Lung Center, Leiden University Medical Center, Albinusdreef 2, Leiden RC, The Netherlands.

Insights

Left ventricular global longitudinal strain (LV GLS) can detect early signs of genetic dilated cardiomyopathy (DCM) before ejection fraction decreases. This allows for earlier intervention in mutation carriers, improving outcomes for genetic heart disease.

Area of Science:

  • Cardiology
  • Genetics
  • Medical Diagnostics

Background:

  • Genetic dilated cardiomyopathy (DCM) often presents late, leading to severe heart failure or sudden death.
  • Early detection of DCM is crucial for implementing preventive strategies.
  • Mutation carriers may be asymptomatic until the disease is advanced.

Purpose of the Study:

  • To investigate the role of left ventricular (LV) global longitudinal strain (GLS) as an early disease marker in genetic DCM.
  • To determine if LV GLS can identify individuals with pathogenic mutations before changes in LV ejection fraction (LVEF).

Main Methods:

  • Evaluated 115 individuals, including genotype-positive/phenotype-positive (GPFP), genotype-positive/phenotype-negative (GPFN), and genotype-negative/phenotype-negative (GNFN) groups.
  • Assessed LV global longitudinal strain (GLS) and LV ejection fraction (LVEF) using echocardiography.
  • Analyzed various genetic mutations, including titin, lamin A/C, and sarcomeric genes.

Main Results:

  • LV GLS was significantly reduced in GPFN individuals (-19.7 ± 3.5%) compared to genotype-negative, phenotype-negative (GNFN) controls (-21.7 ± 1.5%) (P=0.036).
  • The genotype-positive, phenotype-positive (GPFP) group showed the most significant reduction in LV GLS (-12.9 ± 4.3%) (P<0.001).
  • These findings were observed despite similar LVEF values across groups initially.

Conclusions:

  • Decreased LV GLS can differentiate individuals with pathogenic mutations (GPFN) from healthy controls.
  • LV GLS serves as a sensitive early marker for genetic DCM, enabling timely therapeutic interventions.
  • Early detection through LV GLS may improve management and prognosis for genetic DCM.
Abstract

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