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CJC Pediatric and Congenital Heart... Dec 2023Tetralogy of Fallot is the most common cyanotic congenital heart defect requiring surgical repair. Although surgical interventions have significantly reduced mortality,... (Review)
Review
Tetralogy of Fallot is the most common cyanotic congenital heart defect requiring surgical repair. Although surgical interventions have significantly reduced mortality, postrepair complications, such as pulmonary valve regurgitation and stenosis, may lead to adverse outcomes, including right ventricular dysfunction and increased risks of morbidity and mortality. This review explores the potential of advanced imaging technologies, including 4-dimensional-flow magnetic resonance imaging and high-frame-rate echocardiography, in providing valuable insights into blood flow dynamics and energy parameters. Quantitative measures, such as energy loss and vorticity, along with qualitative flow analysis, can provide additional insights into adverse haemodynamics at a potentially earlier and more reversible stage. Furthermore, personalized patient-specific information from these imaging modalities aids in guiding treatment decisions and monitoring postoperative interventions effectively. By characterizing flow patterns, these advanced imaging techniques hold great promise in improving the assessment and management of tetralogy of Fallot, providing tailored insights. However, further research and longitudinal studies are required to fully establish their clinical utility and potential impact on patient care.
PubMed: 38161669
DOI: 10.1016/j.cjcpc.2023.09.011 -
JACC. Cardiovascular Interventions Jan 2024
Topics: Humans; Pulmonary Valve; Tetralogy of Fallot; Treatment Outcome; Pulmonary Valve Insufficiency; Heart Valve Prosthesis Implantation; Bioengineering
PubMed: 38127023
DOI: 10.1016/j.jcin.2023.11.003 -
Advances in Experimental Medicine and... 2024Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic... (Review)
Review
Lesions of the semilunar valve and the aortic arch can occur either in isolation or as part of well-described clinical syndromes. The polygenic cause of calcific aortic valve disease will be discussed including the key role of NOTCH1 mutations. In addition, the complex trait of bicuspid aortic valve disease will be outlined, both in sporadic/familial cases and in the context of associated syndromes, such as Alagille, Williams, and Kabuki syndromes. Aortic arch abnormalities particularly coarctation of the aorta and interrupted aortic arch, including their association with syndromes such as Turner and 22q11 deletion, respectively, are also discussed. Finally, the genetic basis of congenital pulmonary valve stenosis is summarized, with particular note to Ras-/mitogen-activated protein kinase (Ras/MAPK) pathway syndromes and other less common associations, such as Holt-Oram syndrome.
Topics: Humans; Aorta, Thoracic; Aortic Valve; Abnormalities, Multiple; Heart Defects, Congenital; Bicuspid Aortic Valve Disease; Pulmonary Valve Stenosis; Mutation; Receptor, Notch1; Aortic Valve Disease; Heart Valve Diseases; Calcinosis; Hematologic Diseases; Vestibular Diseases
PubMed: 38884747
DOI: 10.1007/978-3-031-44087-8_45 -
JACC. Cardiovascular Interventions Jan 2024Robust data on changes in pulmonary valve replacement (PVR) procedural volume and predictors of bioprosthetic pulmonary valve (BPV) durability in patients with tetralogy...
BACKGROUND
Robust data on changes in pulmonary valve replacement (PVR) procedural volume and predictors of bioprosthetic pulmonary valve (BPV) durability in patients with tetralogy of Fallot (TOF) are scarce.
OBJECTIVES
This study sought to assess temporal trends in PVR procedural volume and BPV durability in a nationwide, retrospective TOF cohort.
METHODS
Data were obtained from patient records. Robust linear regression was used to assess temporal trends in PVR procedural volume. Piecewise exponential additive mixed models were used to estimate BPV durability, defined as the time from implantation to redo PVR with death as a competing risk, and to assess risk factors for reduced durability.
RESULTS
In total, 546 PVR were performed in 384 patients from 1976 to 2021. The annual number of PVR increased from 0.4 to 6.0 per million population (P < 0.001). In the last decade, the transcatheter PVR volume increased by 20% annually (P < 0.001), whereas the surgical PVR volume did not change significantly. The median BPV durability was 17 years (Q1: 10-Q3: 10 years-not applicable). There was no significant difference in the durability of different BPV after adjustment for confounders. Age at PVR (HR: 0.78 per 10 years from <1 year; 95% CI: 0.63-0.96; P = 0.02) and true inner valve diameter (9-17 mm vs 18-22 mm HR: 0.40; 95% CI: 0.22-0.73; P = 0.003 and 18-22 mm vs 23-30 mm HR: 0.59; 95% CI: 0.25-1.39; P = 0.23) were associated with reduced BPV durability in multivariate models.
CONCLUSIONS
The PVR procedural volume has increased over time, with a greater increment in transcatheter than surgical PVR during the last decade. Younger patient age at PVR and a smaller true inner valve diameter predicted reduced BPV durability.
Topics: Humans; Child; Pulmonary Valve; Tetralogy of Fallot; Retrospective Studies; Heart Valve Prosthesis Implantation; Treatment Outcome; Pulmonary Valve Insufficiency
PubMed: 38127022
DOI: 10.1016/j.jcin.2023.10.070 -
Orphanet Journal of Rare Diseases Sep 2023Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities,...
BACKGROUND
Cardio-facio-cutaneous (CFC) syndrome is a RASopathy subtype that presents with unique craniofacial dysmorphology, congenital heart disease, dermatologic abnormalities, growth retardation, and intellectual disability. This study describes the phenotypic spectrum of CFC in China and its association with CFC syndrome gene variants.
RESULTS
Twenty Chinese CFC patients, aged 0.6-9.5 years old, were included in this study and their clinical phenotypic spectrum was compared with that of 186 patients with CFC from non-Chinese ethnicities. All 20 Chinese patients with CFC carried de novo heterozygous BRAF, MAP2K1, and MAP2K2 variants. Two novel variants were detected and consistently predicted to be deleterious using bioinformatic tools. The clinical features of CFC in the Chinese patients included hypertrophic cardiomyopathy (2/20, 10%), pulmonary valve stenosis (2/20, 10%), curly or sparse hair (7/20, 35%), epilepsy (1/20, 5%), and hypotonia (10/20, 50%); these features were less frequently observed in Chinese patients than non-Chinese patients (p < 0.05). In contrast, feeding difficulties (19/20, 95%) were more frequently observed in the Chinese patients. Absent eyebrows and severe short stature were more common in patients with BRAF variants than in those with MAP2K1/2 variants. Facial recognition software was used to recognize most CFC patients using artificial intelligence.
CONCLUSION
This study identified novel and common variants in our cohort of 20 Chinese patients with CFC. We uncovered differences in clinical features between Chinese and non-Chinese patients and detected genotype-phenotype correlations among the BRAF and MAP2K1/2 variant subgroups. This is the largest cohort of Chinese CFC patients to our knowledge, providing new insights into a subtype of RASopathy.
Topics: Humans; Infant; Child, Preschool; Child; Artificial Intelligence; Proto-Oncogene Proteins B-raf; Heart Defects, Congenital; Ectodermal Dysplasia
PubMed: 37697378
DOI: 10.1186/s13023-023-02878-0 -
Current Problems in Cardiology Aug 2023Right ventricular-pulmonary arterial (RV-PA) coupling is an important determinant in the development of right ventricular dilatation. RV-PA coupling is defined as the... (Review)
Review
Right ventricular-pulmonary arterial (RV-PA) coupling is an important determinant in the development of right ventricular dilatation. RV-PA coupling is defined as the ratio of pulmonary arterial elastance (an index of arterial load) and right ventricular end-systolic elastance (an index of contractility). A retrospective study of postoperative 135 TOF patients who underwent for pulmonary valve replacement was conducted. RV-PA coupling was calculated noninvasively using Ea/Emax (cardiac magnetic resonance) = ventricular end-systolic volume/ventricular systolic volume, equation and patients were divided into coupling and uncoupling group and compared the results on the basis of echocardiography and cardiopulmonary exercise test. Lower tricuspid annular plane systolic excursion, percentage predictive peak VO, VE/VCO at anaerobic threshold, (AT), VE/VCO at peak, Minute ventilation, (VE) Volume of Carbondioxide output, (VCO) slope, volume of oxygen output (VO) work rate (WR) slope, and WR at VO peak were identified as risk factors for uncoupling of RV-PA. In RV-PA coupling combination of echocardiography and cardiopulmonary exercise test revealed the most important modality to identify risk factor and may be useful for therapeutic decision making by identifying patients of especially high risk for inadequate therapy.
Topics: Humans; Heart Ventricles; Pulmonary Artery; Exercise Test; Retrospective Studies; Hypertension, Pulmonary; Echocardiography; Stroke Volume; Ventricular Dysfunction, Right
PubMed: 35460685
DOI: 10.1016/j.cpcardiol.2022.101214 -
Pediatric Cardiology Dec 2023Mid-systolic notching (MSN) of the pulmonary valve Doppler signal represents a reflected systolic pressure wave from the pulmonary vasculature and is often seen in...
Mid-systolic notching (MSN) of the pulmonary valve Doppler signal represents a reflected systolic pressure wave from the pulmonary vasculature and is often seen in pulmonary hypertension (PH). We hypothesize that MSN is associated with a higher pulmonary vascular resistance (PVR) and mean pulmonary artery pressure (mPAP), and a diagnosis of PH in pediatric patients. This was a retrospective study of patients ≤ 18 years who had an echocardiogram obtained ≤ 30 days before catheterization for suspected PH. MSN was defined as an indentation in the initial two thirds of the systolic Doppler signal. PH was defined as mPAP > 20 mmHg and PVR ≥ 3.0 Wu m. Subgroups (MSN vs. normal) were compared. Receiver operator characteristic determined a continuous variable's discriminatory ability for a diagnosis of PH. Reproducibility of MSN was assessed. In total, 90 patients (73 with congenital heart disease) were included, of which 36 had MSN and 54 were normal. MSN patients were more likely to have PH, and had significantly higher mPAP, PVR, and lower pulmonary stroke volume. The presence of MSN had good discriminatory ability for PH diagnosis. The presence of MSN had high specificity (96%) for PH, whereas sensitivity was lower (54%). Reproducibility was 100% for MSN. MSN is a simple, highly reproducible echocardiographic metric associated with higher mPAP and PVR. When present, there is a high likelihood a diagnosis of PH confirmed by catheterization. Incorporation of MSN into imaging protocols may be useful. MSN appears worthy of further investigation in pediatric patients with suspected PH.
Topics: Humans; Child; Hypertension, Pulmonary; Pulmonary Valve; Reproducibility of Results; Retrospective Studies; Ultrasonography, Doppler
PubMed: 37676274
DOI: 10.1007/s00246-023-03285-9 -
SAGE Open Medical Case Reports 2023Primary cardiac tumours are rare and most of them are benign. Myxomas, fibroelastomas and lipomas are common in adults. Primary valvular cardiac tumours are even more...
Primary cardiac tumours are rare and most of them are benign. Myxomas, fibroelastomas and lipomas are common in adults. Primary valvular cardiac tumours are even more rare and affect all four valves in a similar proportion. Valvular lipomas are very rare. In the pulmonary valve there is only one described. Lipomas can be spindle-cell varieties. But of these, there is only one described in a valve, and it is placed in the aortic valve. Pulmonary valve lipomas can produce obstruction to the right ventricular outflow tract as well as pulmonary valve regurgitation, or pulmonary embolism. Symptoms may be dyspnoea, angina, arrhythmias, or syncope. We aim to illustrate with this case report how we came into this very rare pathology, so we present a 54-year-old woman with a giant spindle-cell lipoma located in the anterior pulmonary leaflet and severe dyspnoea. Total resection of the tumour was performed and restoration of valve function was obtained by means of bicuspidization of the remaining pulmonary leaflets. She had a good recovery after surgery and no complication during the postoperative evolution, being discharged from hospital after 7 days from surgery, with echocardiographic control showing good biventricular function, absence of tumour or obstruction, and minimal pulmonary valve regurgitation.
PubMed: 38033915
DOI: 10.1177/2050313X231216544 -
Pediatric Cardiology Nov 2023Complex congenital heart disease (CHD) in each of dichorionic diamniotic (DiDi) twin pairs is extremely rare and has not been well characterized. Four DiDi twin pairs...
Complex congenital heart disease (CHD) in each of dichorionic diamniotic (DiDi) twin pairs is extremely rare and has not been well characterized. Four DiDi twin pairs were included in this multi-institutional case series. The congenital cardiac abnormalities noted included tetralogy of Fallot (ToF) with pulmonary atresia and collaterals (n = 1), ToF with absent pulmonary valve (n = 1), ToF (n = 2), discontinuous right pulmonary artery (RPA) (n = 1), tricuspid atresia (TA) with normally related great arteries and pulmonary valve stenosis or atresia (n = 2) and coarctation of aorta (CoA) with bicuspid aortic valve (BAV) and borderline left-sided structures (n = 1). Genetic testing was obtained on seven of the eight twins but did not reveal any causal abnormality. A comprehensive review of literature yielded another 8 DiDi twin pairs with complex CHD. The CHD noted in these twin pairs included ToF (n = 2), CoA (n = 4), corrected transposition of great arteries (ccTGA) (n = 2), truncus arteriosus (n = 2), complete common atrioventricular canal (CCAVC) (n = 2), hypoplastic left heart syndrome (HLHS) (n = 2), Shone's complex (n = 1), and hypoplastic right heart syndrome (HRHS) (n = 1). Limited genetic testing was obtained on 4 of these twins and revealed trisomy 21 in a twin pair. Conotruncal abnormalities (42%), CoA (21%), and abnormalities of the right ventricle, the right ventricular outflow tract and pulmonary arteries (17%) are more prevalent in DiDi twins with complex CHD. Clustering of these abnormalities suggests a possible genetic basis; however, genetic testing was obtained on eleven of the twins, and except for trisomy 21 in a twin pair both of whom had CCAVC, did not reveal any causal abnormality. A major direct genetic contribution is therefore unlikely and like other CHD, the underlying etiopathological basis is likely multifactorial.
PubMed: 37964109
DOI: 10.1007/s00246-023-03339-y -
Radiologic Clinics of North America May 2024The range of potential transcatheter solutions to valve disease is increasing, bringing treatment options to those in whom surgery confers prohibitively high risk. As... (Review)
Review
The range of potential transcatheter solutions to valve disease is increasing, bringing treatment options to those in whom surgery confers prohibitively high risk. As the range of devices and their indications grow, so too will the demand for procedural planning. Computed tomography will continue to enable this growth through the provision of accurate device sizing and procedural risk assessment.
Topics: Humans; Aortic Valve; Tomography, X-Ray Computed; Risk Assessment; Treatment Outcome; Multidetector Computed Tomography
PubMed: 38553178
DOI: 10.1016/j.rcl.2024.01.007