International journal of cardiology. Congenital heart disease最新文献

Background

Heterotaxy syndromes encompass left and right atrial isomerism (LAI and RAI respectively) and are associated with variable cardiac and non-cardiac anomalies which greatly influence outcomes. RAI is usually associated with complex congenital heart disease (CHD), early surgical intervention and increased mortality. LAI is less commonly associated with complex CHD but can be associated with heart block. The objective of this study was to review the clinical features and outcomes of patients with heterotaxy syndromes in Western Australia (WA).

Methods

A retrospective review was performed of live born patients diagnosed with heterotaxy from 2003 to 2022 in a statewide tertiary cardiac service, representing all cases in WA with a view to compare the outcomes between LAI and RAI at our centre.

Results

30 patients (53% male) were diagnosed with heterotaxy; 16 (53%) with LAI and 14 (47%) with RAI. Overall incidence was 0.48 per 10,000 live births over the defined period. RAI patients were significantly more likely to have an antenatal diagnosis (81.8% versus LAI 28.6%, p = 0.03). Overall, 5-year survival was 56% for RAI and 87% for LAI. No deaths occurred after the first 12 months of life with a median follow-up of 65 months (IQR 114.8). RAI was associated with asplenia (91%), atrioventricular septal defect (91%) and a functionally univentricular circulation (71%). LAI was associated with polysplenia (100%) and complete heart block in 3 patients (19%). Surgical pathways included repair of anomalous pulmonary venous return (45%), Blalock Taussig shunt (60%), bidirectional cavopulmonary connection (50%) and Fontan completion (30%).

Conclusions

Patients with RAI suffer high mortality and early surgical intervention, with few making it to Fontan completion. By comparison patients with LAI have less morbidity and mortality. The management of heterotaxy continues to be challenging due to widely associated cardiac and extracardiac manifestations.

Long-term effects of systemic hypertension (HTN) and HTN-mediated damages have been largely studied in non-congenital adult populations. By contrast, robust data about the predisposing factors, prevalence, consequences, and treatment of HTN in adults with congenital heart diseases (ACHD) is still scarce. Different mechanisms including the underlying cardiac disease, cardiac surgery and its consequences, the development of metabolic syndrome and secondary forms seem to play a role in HTN in ACHDs. To mitigate the potential long-term effects of HTN in this complex population, a meticulous follow-up is mandatory to identify patients who should receive treatment, and tailored strategies should be applied to obtain the best as possible result.

Thus, this review will investigate risk factors, effects, and treatments of HTN in ACHD patients.

Compression of left main coronary artery is a severe complication in PAH and the treatment strategy is tricky and should be individualized. We presented a patient with large atrial septal defect (ASD) and non-Eisenmenger pulmonary arterial hypertension (PAH). Right heart catheterization (RHC) showed the defect was non-correctable due to a pulmonary vascular resistance (PVR) of 9.49 Wood Units. EKG suggested myocardial ischemia and coronary angiography and coronary CTA confirmed proximal left main coronary artery was compressed by extremely dilated pulmonary arterial trunk, which is named left main coronary compression syndrome (LMCS). Percutaneous coronary intervention (PCI) using drug-eluting stent was performed and combined PAH-specific medications was prescribed simultaneously. At 6-month following the PCI procedure, PVR had decreased to 3.43 Wood Units, and percutaneous ASD closure procedure was performed. A 6-month follow-up the patient was asymptomatic and had significantly improved pulmonary hemodynamics. LMCS is rare among patients with ASD-PAH. PCI combined with PAH-specific medications allowed the closure of ASD, resulting in clinical improvement.

The increasing population of adult patients with congenital heart disease (ACHD) is at risk of developing coronary artery disease (CAD) and other atherosclerotic cardiovascular diseases due to exposure to cardiovascular risk factors. The impact of this exposure is growing larger as life expectancy of these subjects increases with the progressive improvement in management of congenital heart disease. Studies have shown that ACHD patients have a higher risk for CAD than their non-ACHD matches, highlighting the need for awareness and prevention efforts among congenital heart disease specialists and non-ACHD cardiologists. At the same time, ACHD patients with CAD often present specific characteristics all practicing cardiologists should be aware of. While further research is needed to fully understand the mechanisms underlying the higher CAD risk in this population, this article summarizes key evidence on CAD in ACHD and emphasizes on one hand the importance of early screening and management of known cardiovascular risk factors in ACHD patients, particularly those who are younger, female, or have more complex/severe CHD. On the other hand, it calls for a broader knowledge of ACHD risk for CAD and its peculiarities among all cardiologists.

Background

In adult patients, after a Fontan procedure, high central venous pressure (CVP) is a hemodynamic risk factor associated with poor prognosis. High liver stiffness (LS) on transient elastography (TE) is associated with high CVP in patients with heart failure without liver disease. Here, we investigated whether LS assessment using TE is a reliable method to noninvasively evaluate CVP in adult patients after a Fontan procedure, who can present varying degrees of liver fibrosis as a complication.

Methods

We measured LS using TE and CVP by cardiac catheterization in 24 adult patients who had undergone a Fontan procedure. The estimated CVP was calculated using the previously reported formula: −5.8 + 6.7 × ln[LS]. We examined the correlation between LS and CVP, and degree of agreement between the estimated and measured CVPs. Patients were divided into two groups, with or without suspected liver cirrhosis, based on abdominal imaging studies.

Results

The median patient age was 35 years (interquartile range 25, 39). Overall, there was a strong correlation between LS and CVP (ρ = 0.83, p < 0.001). The estimated CVP based on LS and the CVP measured using cardiac catheterization were positively correlated; however, the estimated CVP tended to be higher than the measured CVP (mean difference 0.9 mmHg [95% limits of agreement: −2.8 to 4.6 mmHg]). These results were consistent across all groups.

Conclusions

In adult patients after a Fontan procedure, LS measured by TE showed a positive correlation with CVP by cardiac catheterization. TE can be useful as a noninvasive estimation of CVP.

Congenital heart disease (CHD) often involves the systemic right ventricle (SRV), which is the morphological right ventricle that supports systemic circulation. SRV patients are at a higher risk of sudden cardiac death (SCD) than other adult CHD patients and continues to be a significant cause of death in this aging population. However, the pathophysiology of ventricular arrhythmias in SRV is still not fully understood, and there may be differences between subtypes of CHD. Although these events are rare, predicting them is challenging. This review discusses contemporary strategies for assessing and preventing the risk of ventricular arrhythmias in SRV patients. Several risk factors have been identified to be associated with ventricular arrhythmias in patients with SRV. A recent risk stratification model combines independently associated factors into a risk score, and subpulmonary left ventricle dysfunction is emerging as a critical factor in risk assessment. Cardiac magnetic resonance imaging, biomarkers, and genetic data may refine the ability to predict ventricular arrhythmias in SRV. However, the question of whether implantable cardioverter-defibrillators (ICDs) should be used as a preventive measure in this cohort remains unanswered. Multicenter studies are needed to evaluate risk models and ICD use in this aging population. Given that ICDs have drawbacks, such as a high rate of inappropriate shocks and late lead-related complications, shared clinical decision-making is crucial when considering their use. The review emphasizes the need for further research in this area to improve the identification of patients at risk of clinical ventricular arrhythmias and to develop effective prevention strategies.

A case of unilateral vascular hypoplasia is presented. A female patient was born with a complex aortic arch anatomy - a double aortic arch with an interrupted left arch. Surgical correction was performed at the age of 3 months. The patient was also noted to have had an ipsilateral large infantile haemangioma. These findings raised the suspicion of the diagnosis of PHACE syndrome. PHACE syndrome is an acronym for Posterior fossa abnormalities, Haemangioma, Arterial anomalies, Cardiac anomalies and Eye anomalies. Future research is needed to elucidate the underlying pathophysiology in PHACE syndrome.

Patients with repaired Tetralogy of Fallot (rTOF) have risks of late life-threatening sequelae, including right ventricular (RV) dilation and failure, arrhythmias, and sudden death. QRS prolongation is a well-known ECG predictor of these outcomes but has poor sensitivity for mortality. Growing evidence demonstrates QRS fragmentation (fQRS) as a better prognostic marker for mortality in adults with rTOF, though the two markers have not been directly compared as correlates for CMR abnormalities. Additionally, fQRS has never been studied in pediatric TOF. This single institution retrospectively reviewed 138 CMRs in rTOF patients (median age 21.7 years) who had a corresponding 12-lead ECG within 1 year. fQRS was defined as ≥3 R-waves/notches in the R/S complex (>2 in right bundle branch block) in ≥2 contiguous leads. QRS prolongation was defined as QRS ≥160 ms. Nearly half (46%) the sample had fQRS (42.1% of pediatric subgroup), and 26% had QRS prolongation. Both markers were significantly associated with reduced RV ejection fraction (EF%) (p < 0.01) and larger RV end-diastolic volumes (p < 0.01). QRS prolongation alone predicted lower LV EF% (p = 0.02). Regression analyses showed both QRS prolongation (p < 0.01) and fQRS (p < 0.01) independently associated with reduced RV EF%; QRS prolongation alone predicted RV dilation (p < 0.01). We concluded that both QRS prolongation and fQRS are equivalent as significant markers of RV dysfunction in rTOF patients. QRS prolongation may be a better surrogate for RV dilation specifically. fQRS was frequently seen in children with rTOF and was significantly associated with similar late structural sequelae.