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Transthoracic Speckle Tracking Echocardiography for the Quantitative Assessment of Left Ventricular Myocardial Deformation
Published on: October 20, 2016
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.
Aims:
Genetic, dilated cardiomyopathy (DCM) can be caused by a large variety of mutations. Mutation carriers are often asymptomatic until DCM is well established, presenting with heart failure, arrhythmias, or sudden cardiac death. Preventive strategies can only be applied if DCM can be detected early. Echocardiographic, left ventricular (LV) global longitudinal strain (GLS) is a promising tool for early diagnosis, i.e. before a decrease in LV ejection fraction (EF) has occurred. We, therefore, investigated the role of LV GLS as an early disease marker in genetic DCM.
Methods And Results:
Genetic DCM patients and genotyped family members were evaluated. The study population was grouped as (i) genotype-positive, phenotype-positive (GPFP) patients with a pathogenic mutation and LVEF <55% (ii) genotype-positive, phenotype-negative (GPFN) individuals with a pathogenic mutation and LVEF ≥55%, and (iii) genotype-negative, phenotype-negative (GNFN) individuals without a pathogenic mutation and LVEF ≥55%. One hundred and fifteen individuals (53 ± 15 years, 51% male) were analysed: 28 (24%) were classified as GNFN, 50 (44%) as GPFN, and 37 (32%) as GPFP. Various mutations were represented: 39 (34%) titin, 14 (12%) lamin A/C, 13 (11%) sarcomeric, and 21 (18%) less frequent mutations (grouped together). The mean LVEF was 58 ± 14% for all subjects. The mean LV GLS in the GNFN group was -21.7 ± 1.5% vs. -19.7 ± 3.5% for the GPFN group (P = 0.036). The mean LV GLS was -12.9 ± 4.3% for the GPFP category (P < 0.001 vs. GPFN and GNFN).
Conclusion:
Decreased LV GLS discriminates GPFN individuals from normal controls, which may permit early institution of therapy for genetic DCM.
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