-
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 -
Obstetrics and Gynecology Aug 2023To review and perform a meta-analysis of observational studies that examined associations between prenatal cannabis exposure and major structural birth defects. (Meta-Analysis)
Meta-Analysis
OBJECTIVE
To review and perform a meta-analysis of observational studies that examined associations between prenatal cannabis exposure and major structural birth defects.
DATA SOURCES
Information sources included Google Scholar, BIOSIS, PubMed/MEDLINE, EMBASE CINAHL, and ClinicalTrials.gov.
METHODS OF STUDY SELECTION
Study titles and abstracts were reviewed with Abstrackr software. We included observational studies that examined the risk of major structural birth defects in people who used cannabis during pregnancy compared with those who had not used cannabis. We excluded case reports, ecologic studies, conference abstracts, manuscript preprints, studies designed to examine effects of cannabis used concurrently with other drugs, and studies that included synthetic cannabinoids. This process yielded 23 studies that analyzed data from birth years 1968-2021.
TABULATION, INTEGRATION, AND RESULTS
We clustered and meta-analyzed measures of association for birth defects by anatomic group. Eleven articles reported an association between cannabis use and the risk of a nonspecific outcome (eg, congenital anomaly). We estimated a pooled odds ratio of 1.33 (95% CI 1.14-1.56) and a pooled adjusted odds ratio (aOR) of 1.22 (95% CI 1.00-1.50). Anatomic groups examined were cardiac (nine studies), oral cleft (three studies), digestive (four studies), genitourinary (three studies), musculoskeletal (seven studies), and nervous system (five studies). Across most outcomes, we reported positive pooled unadjusted associations that were usually attenuated after the inclusion of only adjusted estimates. Two specific anomalies, with limited data, had pooled effect estimates that did not attenuate to the null after adjustment: Ebstein anomaly (two studies, aOR 2.19, 95% CI 1.25-3.82) and gastroschisis (five studies, aOR 2.50, 95% CI 1.09-5.740).
CONCLUSION
Studies examining associations between prenatal exposure to cannabis and major structural birth defects were heterogeneous. Most published effect estimates were unadjusted and scored low on our risk-of-bias assessment. Overall, we found inconsistent evidence to suggest that prenatal cannabis exposure is associated with birth defects. However, findings related to specific anomalies should be considered in further research.
SYSTEMATIC REVIEW REGISTRATION
PROSPERO, CRD42022319041.
Topics: Pregnancy; Female; Humans; Cannabis; Prenatal Exposure Delayed Effects; Odds Ratio; Bias
PubMed: 37473409
DOI: 10.1097/AOG.0000000000005252 -
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 -
Clinical Research in Cardiology :... Nov 2019Left ventricular non-compaction has been increasingly diagnosed in recent years. However, it is still debated whether non-compaction is a pathological condition or a... (Meta-Analysis)
Meta-Analysis
BACKGROUND
Left ventricular non-compaction has been increasingly diagnosed in recent years. However, it is still debated whether non-compaction is a pathological condition or a physiological trait. In this meta-analysis and systematic review, we compare studies, which investigated these two different perspectives. Furthermore, we provide a comprehensive overview on the clinical outcome as well as genetic background of left ventricular non-compaction cardiomyopathy in adult patients.
METHODS AND RESULTS
We retrieved PubMed/Medline literatures in English language from 2000 to 19/09/2018 on clinical outcome and genotype of patients with non-compaction. We summarized and extensively reviewed all studies that passed selection criteria and performed a meta-analysis on key phenotypic parameters. Altogether, 35 studies with 2271 non-compaction patients were included in our meta-analysis. The mean age at diagnosis was the mid of their fifth decade. Two-thirds of patients were male. Congenital heart diseases including atrial or ventricular septum defect or Ebstein anomaly were reported in 7% of patients. Twenty-four percent presented with family history of cardiomyopathy. The mean frequency of neuromuscular diseases was 5%. Heart rhythm abnormalities were reported frequently: conduction disease in 26%, supraventricular tachycardia in 17%, and sustained or non-sustained ventricular tachycardia in 18% of patients. Three important outcome measures were reported including systemic thromboembolic events with a mean frequency of 9%, heart transplantation with 4%, and adequate ICD therapy with 15%. Nine studies investigated the genetics of non-compaction cardiomyopathy. The most frequently mutated gene was TTN with a pooled frequency of 11%. The average frequency of MYH7 mutations was 9%, for MYBPC3 mutations 5%, and for CASQ2 and LDB3 3% each. TPM1, MIB1, ACTC1, and LMNA mutations had an average frequency of 2% each. Mutations in PLN, HCN4, TAZ, DTNA, TNNT2, and RBM20 were reported with a frequency of 1% each. We also summarized the results of eight studies investigating the non-compaction in altogether 5327 athletes, pregnant women, patients with sickle cell disease, as well as individuals from population-based cohorts, in which the presence of left ventricular hypertrabeculation ranged from 1.3 to 37%.
CONCLUSION
The summarized data indicate that non-compaction may lead to unfavorable outcome in different cardiomyopathy entities. The presence of key features in a multimodal diagnostic approach could distinguish between benign morphological trait and manifest cardiomyopathy.
Topics: Humans; Isolated Noncompaction of the Ventricular Myocardium
PubMed: 30980206
DOI: 10.1007/s00392-019-01465-3 -
Prenatal Diagnosis Jun 2024Ebstein anomaly (EA) is a rare congenital cardiac malformation associated with high perinatal mortality. In this systematic review and meta-analysis, we aimed to... (Meta-Analysis)
Meta-Analysis Review
Ebstein anomaly (EA) is a rare congenital cardiac malformation associated with high perinatal mortality. In this systematic review and meta-analysis, we aimed to investigate the outcomes of pregnancies affected by EA or tricuspid valve dysplasia (TVD) with circular shunt, focusing on two prenatal management approaches: (1) expectant management (EM) and (2) transplacental non-steroidal anti-inflammatory drugs (NSAID) therapy. We searched PubMed, Scopus, and Web of Science systematically from its inception until June 2023. The random-effect model was used to pool the data. Heterogeneity was assessed using the I value. Twenty-one studies with a total of 610 fetuses with EA/TVD with circular shunt were included in the synthesis, of which 17 studies (583 fetuses) were on EM and 4 studies (27 fetuses) used transplacental NSAID therapy. The NSAID group had higher rates of moderate to severe tricuspid regurgitation, hydrops, and pericardial effusion on prenatal ultrasound compared with the EM group. However, ductal constriction was achieved in 81% of NSAID cases, mitigating the disease pathophysiology, although 65% of them experienced oligohydramnios. Notably, the NSAID group showed significantly higher rates of live birth (86%) and survival to hospital discharge (89%) compared with the EM group (67% and 43%, respectively). Despite these promising results, it's important to acknowledge that the number of cases treated with NSAIDs was small, with limited safety data. Therefore, caution is advised in interpreting these findings, and patients considering NSAID therapy should be informed about these limitations. Future multicenter studies are necessary to further explore the safety and effectiveness of NSAID therapy in this particular population.
Topics: Humans; Ebstein Anomaly; Pregnancy; Female; Anti-Inflammatory Agents, Non-Steroidal; Watchful Waiting; Ultrasonography, Prenatal
PubMed: 37902170
DOI: 10.1002/pd.6446