Acta Cardiologica Sinica最新文献

As an X-linked inherited lysosomal storage disease that is caused by α-galactosidase A gene variants resulting in progressive accumulation of pathogenic glycosphingolipid (Gb3) accumulation in multiple tissues and organs, Fabry disease (FD) can be classified into classic or late-onset phenotypes. In classic phenotype patients, α-galactosidase A activity is absent or severely reduced, resulting in a more progressive disease course with multi-systemic involvement. Conversely, late-onset phenotype, often with missense variants (e.g., IVS4+919G>A) in Taiwan, may present with a more chronic clinical course with predominant cardiac involvement (cardiac subtype), as they tend to have residual enzyme activity, remaining asymptomatic or clinically silent during childhood and adolescence. In either form, cardiac hypertrophy remains the most common feature of cardiac involvement, potentially leading to myocardial fibrosis, arrhythmias, and heart failure. Diagnosis is established through α-galactosidase enzyme activity assessment or biomarker analyisis (globotriaosylsphingosine, Lyso-Gb3), advanced imaging modalities (echocardiography and cardiac magnetic resonance imaging), and genotyping to differentiate FD from other cardiomyopathy. Successful therapeutic response relies on early recognition and by disease awareness from typical features in classic phenotype and cardiac red flags in cardiac variants for timely therapeutic interventions. Recent advances in pharmacological approach including enzyme replacement therapy (agalsidase alfa or beta), oral chaperone therapy (migalastat), and substrate reduction therapy (venglustat) aim to prevent from irreversible organ damage. Genotype- and gender-based monitoring of treatment effects through biomarker (Lyso-Gb3), renal assessment, and cardiac responses using advanced imaging modalities are key steps to optimizing patient care in FD.

Background: Lower extremity peripheral artery disease (LE-PAD) has been linked to unfavorable cardiovascular outcomes. The impact of potentially undiagnosed LE-PAD, suspected by abnormal ankle-brachial index (ABI), on the survival of sepsis patients admitted to the intensive care unit (ICU) remains uncertain.

Methods: We conducted a prospective cohort study and recruited adult patients admitted to the ICU with a primary diagnosis of sepsis (defined by a quick Sepsis-Related Organ Failure Assessment score of ≥ 2) between November 23, 2017 and July 22, 2018. ABI measurements were obtained within 24 hours of admission. The study compared the 30-day and 1-year all-cause mortality rates as well as the incidence of major adverse cardiovascular events (MACEs) between the groups with normal and abnormal ABI values.

Results: Of the 102 sepsis patients admitted to the ICU, 38 (37%) were diagnosed with LE-PAD based on their ABI measurements. The overall 30-day mortality rate was 30.0% in patients with LE-PAD and 25.8% in those with normal ABI (p = 0.56). At 1 year, the overall mortality rate was 52.6% in the patients with abnormal ABI and 40.6% in those with normal ABI (p = 0.24). Additionally, the incidence of MACEs was significantly higher in the patients with abnormal ABI compared to those with normal ABI at 1-year follow-up (21.1% vs. 3.1%, respectively; p = 0.003).

Conclusions: The patients with abnormal ABI had a higher incidence of MACEs within one year following hospital discharge. Future studies are needed to improve cardiovascular outcomes among sepsis survivors (ClinicalTrials.gov number, NCT03372330).

Objectives: Pericardial effusion is rare in children, and the diagnosis is often delayed due to varied presentation and lack of classical Beck's triad manifestation. Delayed initiation of management leads to high mortality (30%). This study aimed to identify the clinico-epidemiological profile of children with pericardial effusion and their outcome.

Methods: This retrospective study was conducted at the pediatric intensive care unit of a tertiary care center in northern India from January 2019-September 2021, and included children (1 month-18 years) with pericardial effusion. History, clinical presentation, examinations, radiological and laboratory investigations were analyzed.

Results: Fifty-four children [median age 63 months (46.5, 132)] were included. Of these children, 78% had at least one feature of Beck's triad; muffling was predominant (42.6%). Overall, 35.2% had severe effusion. The incidence rates of tamponade (66.7%), muffling (68.4%), cardiomegaly (100%), and low voltage electrocardiography (100%) were higher in those with severe effusion compared to those without severe effusion (48.4%, 42.6%, 83.3%, 59.3% respectively). Overall, 44.4% of the children underwent pericardiocentesis, and 9.3% had pigtail catheterization. The children requiring pigtail catheter insertion underwent the procedure within 24 hours of admission. Pericardial effusion of tubercular etiology (19/54) mainly presented with breathlessness (84.2%), poor appetite (63.1%), and weight loss (42.9%), and the incidence rates of severe effusion and pericardiocentesis were 52.6% and 68.4%, respectively. Overall, the mean duration of pigtail catheter in situ was 11.4 days (±6.05), including 8.66 days (±3.77) in the non-tubercular group and 15.5 days (±6.5) in the tubercular group (p = 0.33).

Conclusions: Most of the children with pericardial effusion in this study had tubercular etiology, and most had a severe presentation and required pericardiocentesis. Early suspicion, even the presence of a single component of Beck's triad, may be helpful for prompt management.

Background: Poor sleep quality is an overlooked symptom in patients with pulmonary arterial hypertension (PAH), however it may significantly contribute to disease burden.

Objectives: The aim of this study was to assess the sleep quality of patients with PAH and investigate its association with dyspnea, fatigue, and exercise capacity.

Methods: Forty-five patients were included. Sleep quality of the patients was assessed by the Pittsburgh Sleep Quality Index (PSQI), dyspnea levels were assessed by the UCSD-Shortness of Breath Questionnaire (UCSD-SOBQ), Baseline Dyspnea Index (BDI), Modified Medical Research Council (MMRC) dyspnea scale and Modified Borg Dyspnea scale, fatigue levels were evaluated with the Fatigue Severity Scale and Borg Rating of Perceived Exertion, and functional exercise capacity was evaluated with the 6-minute walk test (6MWT).

Results: Among the patients with PAH, 64% had poor sleep quality (PSQI > 5). PSQI score was significantly correlated with MMRC scale (r = -0.561), UCSD-SOBQ (r = 0.497), BDI (r = -0.468), and 6MWT (r = -0.412) (p < 0.05). There was no significant relationship between sleep quality and fatigue. A regression model including MMRC and 6MWT could explain 32% of variance in PSQI (p < 0.05), and MMRC score was an independent predictor for PSQI (p < 0.05). In addition, MMRC score had a greater influence on PSQI than 6MWT (β = 0.548 vs. 0.019).

Conclusions: Poor sleep quality is common in patients with PAH and is associated with poor exercise capacity and dyspnea. Patients with severe dyspnea are particularly at higher risk of poor sleep quality. Consideration of sleep-related complaints and underlying mechanisms when planning symptomatic treatments for these patients may help provide better management for PAH.

Objective: This study aimed to validate the effectiveness, accuracy, and feasibility of the cut-plane method for measuring the side branch (SB) ostium area in three-dimensional optical coherence tomography (3D-OCT) pullbacks performed in the main branch (MB).

Methods: A total of 109 sets of OCT pullbacks from the MB and SB of coronary artery bifurcation lesions were analyzed using Vivolight OCT software. Measurements of the SB ostium area from the MB and SB pullbacks were analyzed. Measurements of the SB ostium area from the actual SB pullback were used as a reference. 3D cut-plane analysis was used to estimate the correlations and mean errors with the reference measurements.

Results: Thirty-four sets of OCT images from the C7XR system and 75 sets from the Cornaris^TM system were analyzed using Vivolight software. There was a strong correlation between the reference measurements of the SB ostium area and the measurements obtained through 3D cut-plane analysis in the overall dataset (r = 0.925). This correlation was observed consistently with both the C7XR system (r = 0.955) and Cornaris^TM system (r = 0.900). Similar results were found in subset analyses of true and nontrue bifurcations (r = 0.936; r = 0.898, respectively) and in left main (LM) or non-LM bifurcation subsets (r = 0.932; r = 0.873, respectively).

Conclusions: There were strong correlations between measurements of the SB ostium area by 3D-OCT and the reference measurements, and thus may be a reliable and accurate alternative to direct OCT pullback examinations of the SB.