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Journal of Cardiovascular Development... Apr 2022Traditional definitions of Ebstein's anomaly (EA) and left ventricular noncompaction (LVNC), two rare congenital heart defects (CHDs), confine disease to either the... (Review)
Review
Traditional definitions of Ebstein's anomaly (EA) and left ventricular noncompaction (LVNC), two rare congenital heart defects (CHDs), confine disease to either the right or left heart, respectively. Around 15-29% of patients with EA, which has a prevalence of 1 in 20,000 live births, commonly manifest with LVNC. While individual EA or LVNC literature is extensive, relatively little discussion is devoted to the joint appearance of EA and LVNC (EA/LVNC), which poses a higher risk of poor clinical outcomes. We queried PubMed, Medline, and Web of Science for all peer-reviewed publications from inception to February 2022 that discuss EA/LVNC and found 58 unique articles written in English. Here, we summarize and extrapolate commonalities in clinical and genetic understanding of EA/LVNC to date. We additionally postulate involvement of shared developmental pathways that may lead to this combined disease. Anatomical variation in EA/LVNC encompasses characteristics of both CHDs, including tricuspid valve displacement, right heart dilatation, and left ventricular trabeculation, and dictates clinical presentation in both age and severity. Disease treatment is non-specific, ranging from symptomatic management to invasive surgery. Apart from a few variant associations, mainly in sarcomeric genes and , the genetic etiology and pathogenesis of EA/LVNC remain largely unknown.
PubMed: 35448091
DOI: 10.3390/jcdd9040115 -
Journal of the American Society of... Feb 2024Speckle-tracking echocardiography (STE) is now routinely included in cardiac evaluations, but its role in predicting mortality and morbidity in congenital heart disease... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Speckle-tracking echocardiography (STE) is now routinely included in cardiac evaluations, but its role in predicting mortality and morbidity in congenital heart disease (CHD) is not well described. We conducted a systematic review to evaluate the prognostic value of STE in patients with CHD.
METHODS
The EMBASE, Medline, Web of Science, Scopus, and Cochrane Central Register of Controlled Trials (CENTRAL) databases were searched from inception to January 2023 for terms related to all CHD, STE, and prognosis. Meta-analysis of association of right ventricle and left ventricle strain (RV S and LV S, respectively) with major adverse cardiovascular events (MACEs) was performed in atrial switch transposition of the great arteries (asTGA)/congenitally corrected TGA (ccTGA), tetralogy of Fallot (ToF), and congenital aortic stenosis (cAS)/bicuspid aortic valve (BAV). P-value combination analysis was additionally performed for all CHD groups.
RESULTS
A total of 33 studies (30 cohorts, n = 8,619 patients, children, and adults) were included. Meta-analysis showed the following parameters as being associated with MACE: RV S in asTGA/ccTGA (hazard ratio [HR] = 1.1/%; CI, [1.03; 1.18]), RV S and LV S in ToF (HR = 1.14/%; CI, [1.03; 1.26] and HR = 1.14/%; CI, [1.08; 1.2], respectively), and LV S in cAS/BAV (HR = 1.19/%; CI, [1.15; 1.23]). The RV S and strain rate were associated with outcomes also in single ventricle/hypoplastic left heart syndrome (at all palliation stages except before Norwood stage 1) and LV S in Ebstein's anomaly.
CONCLUSIONS
This systematic review and meta-analysis showed that biventricular strain and strain rate were associated with outcomes in a variety of CHD, highlighting the need for updated recommendations on the use of STE in the current guidelines, specific to disease types.
Topics: Adult; Child; Humans; Transposition of Great Vessels; Heart Defects, Congenital; Echocardiography; Tetralogy of Fallot; Heart Ventricles; Heart Atria; Morbidity
PubMed: 37972793
DOI: 10.1016/j.echo.2023.11.003