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<p>In adults with congenital heart disease (ACHD patients), atrial arrhythmias (AA) and heart failure (HF) are common. Of these, AA is one of the leading causes for hospital admissions in ACHD care.<cross-ref type="bib" refid="R1">1</cross-ref> Factors related to congenital heart disease, such as underlying anatomy, surgical repair technique and scars, can all be considered as AA substrates. Scar-related re-entrant atrial tachycardias and atrial fibrillation (AF) are the most common types of AA, but focal atrial tachycardias, atrioventricular re-entrant tachycardia using an accessory pathway and atrioventricular nodal re-entrant tachycardia are also encountered.<cross-ref type="bib" refid="R2">2</cross-ref> To differentiate between these subtypes is a challenging clinical task due to pre-existent abnormal ECGs in these patients. Early diagnosis and ECG documentation is therefore essential for arrhythmia management. HF is also highly prevalent and is currently the most common cause of mortality in ACHD patients. In the current issue, Lauwers and coworkers<cross-ref type="bib" refid="R3">3</cross-ref> set out...
<p>Fabry disease (FD) is a rare X-linked genetic lysosomal storage disorder characterised by glycosphingolipid accumulation leading to multiorgan involvement including the heart typically in the second to fourth decades of life. Cardiomyopathy is a primary determinant of prognosis in FD and typically presents as a heart failure (HF) with a preserved ejection fraction phenotype.<cross-ref type="bib" refid="R1">1</cross-ref> Early identification and treatment are essential to mitigate disease progression leading to proposals for clinical staging of FD cardiomyopathy based on clinical and imaging variables to guide ongoing research and treatment strategies.<cross-ref type="bib" refid="R2">2</cross-ref></p> <p>Exercise intolerance is common in FD,<cross-ref type="bib" refid="R3">3</cross-ref> and cardiopulmonary exercise testing (CPET) may offer the collective advantage to quantify functional impairment, identify organ system-limiting causes, inform prognosis, evaluate therapeutic responses and detect subclinical changes.<cross-ref type="bib" refid="R4">4</cross-ref> Indeed, the use of CPET is recognised in HF guidelines<cross-ref type="bib" refid="R5">5</cross-ref> and parameters such as peak oxygen consumption (VO<SUB>2peak</SUB>) offer a...
<sec><st>Background</st>
<p>Accurate discrimination of functionally significant coronary stenosis using intravascular imaging remains uncertain, particularly with regard to vessel size. This meta-analysis evaluates the diagnostic performance of intravascular ultrasound (IVUS) and optical coherence tomography (OCT) for identifying functionally significant coronary stenosis as confirmed by fractional flow reserve (FFR).</p>
</sec>
<sec><st>Methods</st>
<p>A systematic search of PubMed, Scopus and Google Scholar identified studies that assessed the diagnostic accuracy of IVUS and OCT by minimal luminal area (MLA) with FFR as the reference standard. Sensitivity and specificity were analysed across different vessel diameters including left main coronary artery (LM) lesions. Hierarchical models estimated the summary receiver operating characteristic curve, sensitivity and specificity.</p>
</sec>
<sec><st>Results</st>
<p>31 studies involving 4039 patients and 4413 lesions were analysed. For IVUS, a median MLA threshold of 2.9 mm² (IQR: 2.6–3.2) predicted significant lesions, yielding an area under the curve (AUC) of 0.76. In vessels≥3 mm, this threshold increased to 3.0 mm² (IQR: 2.7–3.1) with an AUC of 0.76 while in smaller vessels it decreased to 2.6 mm² (IQR: 2.4–2.7) with an AUC of 0.79. For LM lesions, the median threshold was 6.0 mm² (IQR: 4.9–6.2) with an AUC of 0.88. OCT demonstrated a median threshold of 2.0 mm² (IQR: 1.7–2.3) and an AUC of 0.82 with better performance in larger vessels (≥3 mm, median 3.0 mm², AUC 0.87) than in smaller ones (<3 mm, median 1.8 mm², AUC 0.75).</p>
</sec>
<sec><st>Conclusions</st>
<p>IVUS and OCT show moderate diagnostic accuracy for identifying functionally significant coronary stenosis with OCT providing improved accuracy in vessels≥3 mm. IVUS is more accurate in assessing LM lesions, suggesting that vessel size should guide modality selection.</p>
</sec>
<sec><st>PROSPERO registration number</st>
<p>CRD 42024514538.</p>
</sec>
<sec><st>Background</st>
<p>Cardiovascular disease (CVD) remains a significant public health challenge in China. This study aimed to project the burden of CVD from 2020 to 2030 using a nationwide cohort and to simulate the potential impact of various control measures on morbidity and mortality.</p>
</sec>
<sec><st>Methods</st>
<p>An agent-based model was employed to simulate annual CVD incidence and mortality from 2021 to 2030. The effects of different prevention and treatment interventions, modelled on international strategies, were also explored.</p>
</sec>
<sec><st>Results</st>
<p>The study included 106 259 participants. The annual CVD incidence rate is projected to increase from 0.74% in 2021 to 0.97% by 2030, with age-standardised and sex-standardised rates rising from 0.71% to 0.96%. CVD mortality is expected to rise from 0.39% in 2021 to 0.46% in 2024, after which it will stabilise at 0.44% by 2030. Community-based interventions and improved access to inpatient care are predicted to reduce the projected burden of CVD significantly.</p>
</sec>
<sec><st>Conclusions</st>
<p>The incidence of CVD in China is projected to increase steadily over the next decade, while mortality will plateau after 2024. Comprehensive interventions, including community-based screenings and enhanced healthcare access, could significantly mitigate the CVD burden.</p>
</sec>
<sec><st>Trial registration number</st>
<p> <A HREF="NCT02536456">NCT02536456</A>.</p>
</sec>
<sec><st>Background</st>
<p>Atrial arrhythmias (AA) and heart failure (HF) are major causes of hospitalisation in adult congenital heart disease (ACHD). This study aimed to evaluate the temporal relationship between AA and HF onset, the association between HF and the success of radiofrequency ablation (RFA), and how HF influences outcomes in patients with AA.</p>
</sec>
<sec><st>Methods</st>
<p>In this single-centre retrospective cohort study, data from 3995 patients with ACHD were analysed. Dates of first AA and HF presentations were documented, and outcomes of RFA, including acute and long-term success, were assessed. All-cause mortality was compared between patients with AA and those with both AA and HF.</p>
</sec>
<sec><st>Results</st>
<p>The median age at last follow-up was 33 years (IQR 26–42). AA was observed in 348 patients (8.7%), and HF in 256 (6.4%). Among patients who developed both AA and HF (n=130), AA preceded HF in 79% of cases, with a median interval of 6 years (IQR 2–13) before HF diagnosis. In the remaining cases, AA occurred after HF diagnosis (median 2 years, IQR 1–6). RFA was performed in 119 patients (34.2%), 45 of whom had HF. Two years after RFA, 72% of patients were free from AA recurrence. Patients without HF had higher acute success rates (98% vs 90%) and lower recurrence rates (48% vs 76%) than those with HF. Patients with AA with HF had worse overall survival compared with those without HF.</p>
</sec>
<sec><st>Conclusions</st>
<p>In patients with ACHD, AA frequently precedes HF by several years. RFA can be an effective treatment for AA, but acute success is lower and recurrence rate higher when HF is present.</p>
</sec>
<sec><st>Background</st>
<p>Bicuspid aortic valve (BAV) is the most common congenital heart defect in adults, often leading to complications such as thoracic aortic aneurysms and aortic stenosis. While BAV is frequently associated with 22q11.2 deletion syndrome (22q11.2DS), the contribution of rare copy number variants (CNVs) in this region to non-syndromic BAV is less clear. This study is aimed to assess the role of rare 22q11.2 CNVs in patients with early-onset BAV (EBAV) and to determine whether these variants are linked to an increased risk of complications.</p>
</sec>
<sec><st>Methods</st>
<p>Whole genome microarray genotyping was conducted on 272 patients with BAV with early onset valve or aortic disease (EBAV) and 272 biological relatives. CNVs were detected using three independent algorithms, focusing on the 22q11.2 region (18–24 Mb). CNV burden in the EBAV cohort was compared with unselected European ancestry controls.</p>
</sec>
<sec><st>Results</st>
<p>Rare duplications and deletions within the 22q11.2 region, particularly involving genes associated with cardiac development, were identified in 7.4% of EBAV probands. These CNVs were significantly enriched compared with the general population and segregated with BAV in families. Individuals carrying rare 22q11.2 CNVs had a higher prevalence of psychiatric diagnoses and learning difficulties, although they did not exhibit the typical features of 22q11.2DS. Importantly, these CNVs were associated with early onset or complex BAV cases, underscoring their potential clinical relevance.</p>
</sec>
<sec><st>Conclusions</st>
<p>Rare 22q11.2 CNVs play a role in non-syndromic BAV, particularly in cases with early onset or complex presentations. CNV screening could be considered as part of risk stratification for patients with BAV, helping to predict complications and guide management.</p>
</sec>
<sec><st>Trial registration number</st>
<p> <A HREF="NCT01823432">NCT01823432</A>.</p>
</sec>
<sec><st>Background</st>
<p>Fabry disease (FD) causes multiorgan sphingolipid accumulation, with cardiac involvement responsible for the largest burden of morbidity and mortality. Exercise intolerance in FD is prevalent, yet the mechanisms of this are poorly understood. The aim of this study was to assess exercise intolerance in FD and identify whether this correlates with the phase of cardiomyopathy.</p>
</sec>
<sec><st>Methods</st>
<p>This was a retrospective observational study of adults with FD undergoing cardiopulmonary exercise testing (CPEX) between September 2011 and September 2023 at a national referral centre in the UK. The primary outcome measure was peak oxygen uptake (VO<SUB>2peak</SUB>), with forced expiratory volume in 1 s (FEV<SUB>1</SUB>) used to quantify respiratory impairment. Age-normalised/sex-normalised values were additionally calculated, based on published normal ranges for subgroups of age and sex. The cardiomyopathy phase was classified on a 4-point scale by two FD experts using contemporaneous imaging and biochemistry results.</p>
</sec>
<sec><st>Results</st>
<p>CPEX was completed by 42 patients, with a median age of 54 years and of whom 62% were male. Patients were approximately equally distributed across the four cardiomyopathy phases. At phase I, the mean (±SD) VO<SUB>2peak</SUB> was 28.7±7.7 mL/kg/min, which represented a significant underperformance of 23%, relative to age-normalised and sex-normalised values (expected mean: 37.3±3.2 mL/kg/min, p=0.006). VO<SUB>2peak</SUB> declined significantly across the cardiomyopathy phases (p=0.010), reaching a mean of 21.2±6.1 mL/kg/min at phase IV. Normalised FEV<SUB>1</SUB> was not found to show a corresponding significant change with cardiomyopathy phase (p=0.683). Impaired left atrial global longitudinal strain as well as biochemical markers of inflammation were associated with impaired VO<SUB>2peak</SUB>.</p>
</sec>
<sec><st>Conclusions</st>
<p>This study identifies significantly impaired aerobic capacity in FD, even in those without phenotypic cardiomyopathy. No corresponding changes in respiratory impairment were observed, suggesting that exercise intolerance may be due to early cardiac sphingolipid accumulation and subsequent atrial and ventricular dysfunction, which increases as cardiomyopathy progresses. As such, peak VO<SUB>2peak</SUB> holds promise as a therapeutic marker of response to FD-specific therapy.</p>
</sec>
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