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1.
J Pediatr ; : 114156, 2024 Jun 17.
Artigo em Inglês | MEDLINE | ID: mdl-38897381

RESUMO

OBJECTIVE: To assess health-related quality of life (HRQOL) and global quality of life (QOL) in children and adolescents with Fontan physiology and identify key predictors influencing these outcomes. STUDY DESIGN: Cross-sectional analysis of 73 children and adolescents enrolled in the Australia and New Zealand Fontan Registry (ANZFR) aged 6-17 years, at least 12 months post-Fontan operation. Assessments included the Pediatric Quality of Life Inventory 4.0 (PedsQL) for HRQOL and a developmentally-tailored visual analogue scale (0-10) for global QOL, along with validated sociodemographic, clinical, psychological, relational, and parental measures. Clinical data were provided by the ANZFR. RESULTS: Participants (mean age: 11.5±2.6 years, 62% male) reported lower overall HRQOL (p<0.001), and lower scores across all HRQOL domains (all p<0.0001), compared with normative data. Median global QOL score was 7.0 (IQR 2.2), with most participants (79%) rating their global QOL ≥6. Anxiety and depressive symptoms requiring clinical assessment were reported by 21% and 26% of participants, respectively. Age, sex, and perceived seriousness of CHD explained 15% of the variation in HRQOL scores, while depressive symptoms and treatment-related anxiety explained an additional 37% (final model: 52% of variance explained). For global QOL, sociodemographic and clinical factors explained 13% of the variance in scores, while depressive symptoms explained a further 25% (final model: 38% of variance explained). Parental factors were not associated with child QOL outcomes. CONCLUSIONS: Children and adolescents with Fontan physiology experience lower HRQOL than community-based norms, despite reporting fair overall QOL. Psychological factors predominantly influenced QOL outcomes, indicating strategies to bolster psychological health could improve QOL in this population.

2.
Artigo em Inglês | MEDLINE | ID: mdl-38897544

RESUMO

OBJECTIVE: To evaluate the outcomes of the extracardiac (EC) Fontan operation at a single institution. METHODS: We conducted a retrospective study of 398 patients from a single institution who underwent their initial EC Fontan operation between 1997 and 2020. We determined the incidence of, and risk factors for, failure of the Fontan circulation (which includes death, Fontan takedown, heart transplantation, protein losing enteropathy, plastic bronchitis and functional status at the last follow up). RESULTS: The median follow-up time was 10.3 (IQR 6.4-14.6) years. The overall survival rate was 96% and 86% at 10 and 20 years after EC Fontan operation. There were 6 early (6/398, 1.5%) and 15 late deaths (15/398, 3.8%). Forty-nine patients (12.5%) developed failure of the Fontan circulation. Freedom from the failure of Fontan circulation at 10 years was 88% and 76% at 20 years. Risk factors for failure of the Fontan circulation were right ventricular (RV) dominance (hazard ratio [HR], 4.7; P < 0.001; 95% confidence interval [CI], 2.1-10.5), aortic atresia (HR 5.5; P < 0.001; 95% CI, 2.3-12.8) and elevated mean pulmonary artery (PA) pressure (HR, 2.3; P = 0.002; 95% CI, 1.2-6.7). CONCLUSIONS: Rates of failure of the Fontan circulation are low following the contemporary EC Fontan operation. Risk factors for failure of the EC Fontan circulation include RV dominance, aortic atresia and elevated PA pressures.

3.
Heart Lung Circ ; 2024 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-38871532

RESUMO

AIM: Heart transplantation (HT) in patients with failing univentricular circulation is often challenging. This is compounded by the ever-increasing number of patients with prior Norwood-type reconstruction of the aorta, large aortic root, and often dense adhesions from multiple prior operations. We aimed to elucidate differences in outcomes of HT in patients with prior univentricular palliations, with and without prior Norwood-type aortic arch reconstruction (ArchRec). METHODS: All patients who underwent HT for failed univentricular palliation during the 1990-2022 period were included in the study. RESULTS: Of 45 patients, 18 had undergone ArchRec. Hospital mortality improved in the recent era (17.4% before 2006 vs 0% after 2006; p=0.11), despite a higher proportion of patients with ArchRec (17.4% before 2006 vs 60.8% after 2006, p=0.002). Patients with ArchRec had a higher number of prior cardiac surgeries (4.1±1.5 vs 3.2±1.3, p=0.04), longer cardiopulmonary bypass time (320±23 vs 242±21 min, p=0.02), more concomitant arch reconstruction (33.3% vs 0%, p=0.02), greater need for post-HT extracorporeal membrane oxygenation (33.3% vs 3.7%; p=0.01) and longer hospital stay (37.1±30.5 days vs 23.6±11.8 days, p=0.04). Freedom from death or retransplantation for all patients was 91%, 73%, 67%, and 53% at 1, 5, 10, and 15-years, respectively. Prior ArchRec, Fontan procedure, and earlier eras were not risk factors for death. CONCLUSIONS: The outcomes of HT after univentricular palliation have improved in recent times and low operative mortality can be achieved. Despite increased complexity, good similar outcomes can be achieved in patients with and without prior arch reconstruction regardless of the palliation stage.

4.
Heart Lung Circ ; 33(2): 153-196, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38453293

RESUMO

These first Australian National Standards of Care for Childhood-onset Heart Disease (CoHD Standards) have been developed to inform the healthcare requirements for CoHD services and enable all Australian patients, families and carers impacted by CoHD (paediatric CoHD and adult congenital heart disease [ACHD]) to live their best and healthiest lives. The CoHD Standards are designed to provide the clarity and certainty required for healthcare services to deliver excellent, comprehensive, inclusive, and equitable CoHD care across Australia for patients, families and carers, and offer an iterative roadmap to the future of these services. The CoHD Standards provide a framework for excellent CoHD care, encompassing key requirements and expectations for whole-of-life, holistic and connected healthcare service delivery. The CoHD Standards should be implemented in health services in conjunction with the National Safety and Quality Health Service Standards developed by the Australian Commission on Safety and Quality in Health Care. All healthcare services should comply with the CoHD Standards, as well as working to their organisation's or jurisdiction's agreed clinical governance framework, to guide the implementation of structures and processes that support safe care.


Assuntos
Cardiopatias Congênitas , Humanos , Criança , Adulto , Austrália/epidemiologia , Cardiopatias Congênitas/terapia , Padrão de Cuidado , Atenção à Saúde
5.
J Med Genet ; 61(2): 171-175, 2024 Jan 19.
Artigo em Inglês | MEDLINE | ID: mdl-37657916

RESUMO

TBX20 encodes a cardiac transcription factor that is associated with atrial septal defects. Recent studies implicate loss-of-function TBX20 variants with left ventricular non-compaction cardiomyopathy (LVNC), although clinical and genetic data in families are limited. We report four families with TBX20 loss-of-function variants that segregate with LVNC. Genetic testing using genome or exome sequencing was performed in index cases, variants were validated with Sanger sequencing, and cascade genetic testing was performed in family members. A multi-exon deletion, small deletion, essential splice site variant and nonsense variant in TBX20 were found in four families. The index cases in two families were symptomatic children with identical congenital heart diseases and LVNC who developed different cardiomyopathy phenotypes with one developing heart failure requiring transplantation. In another family, the child index case had LVNC and congestive heart failure requiring heart transplantation. In the fourth family, the index case was a symptomatic adult with LVNC. In all families, the variants segregated in relatives with isolated LVNC, or with congenital heart disease or cardiomyopathy. Family members displayed a clinical spectrum from asymptomatic to severe presentations including heart failure. Our data strengthen TBX20 loss-of-function variants as a rare cause of LVNC and support TBX20 inclusion in genetic testing of LVNC.


Assuntos
Cardiomiopatias , Cardiopatias Congênitas , Insuficiência Cardíaca , Adulto , Criança , Humanos , Mutação , Cardiomiopatias/genética , Cardiopatias Congênitas/genética , Coração , Insuficiência Cardíaca/genética , Proteínas com Domínio T/genética
6.
Chest ; 165(4): 967-977, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37951349

RESUMO

BACKGROUND: Current guidelines recommend initial monotherapy for pulmonary arterial hypertension (PAH) with cardiopulmonary comorbidities, despite limited available evidence to guide management. RESEARCH QUESTION: Do left heart disease (LHD) risk factors have an impact on treatment response and influence applicability of risk assessment in a real-world cohort of patients with PAH? STUDY DESIGN AND METHODS: The Ambrisentan and Tadalafil in Patients with Pulmonary Arterial Hypertension (AMBITION) trial criteria was used to define the phenotype of patients with PAH with risk factors for LHD. Treatment strategy, functional outcome, long-term survival, and risk discrimination were compared with a reference PAH cohort using the Pulmonary Hypertension Society of Australia and New Zealand Registry. RESULTS: A total of 487 incident patients with PAH diagnosed between 2011 and 2020 were included. Of these, 103 (21.1%) fulfilled the definition of PAH with LHD risk factors, with 384 (78.9%) remaining as the reference group. Patients in the PAH with LHD risk factors group were older (66 ± 13 vs 58 ± 19 years; P < .001), had lower pulmonary vascular resistance (393 ± 266 vs 708 ± 391 dyn.s/cm5; P = .031), and had worse 6-min walk distance (286 ± 130 vs 327 ± 136 m; P = .005) at diagnosis. The PAH with LHD risk factors group was less likely to receive initial combination therapy (27% vs 44%; P = .02). Changes in 6-min walk distance at 12 months were similar in both groups (43 ± 77 m in the PAH with LHD risk factors group and 50 ± 90 m in the reference group; P = .50), including when stratified by initial treatment strategy (PAH with LHD risk factors group vs reference PAH group: monotherapy: 40 ± 81 vs 38 ± 95 m, P = .87; combination therapy: 53 ± 78 vs 64 ± 106 m, P = .511). Functional class improvements were also similar in both groups. REVEAL Registry 2.0 risk score effectively discriminated risk in both populations (C statistic = 0.756 for the PAH with LHD risk factors group and C statistic = 0.750 for the reference PAH group). There was no difference in survival between the two groups (log-rank test, P = .29). INTERPRETATION: In a real-world cohort, patients with PAH with LHD risk factors were less likely to be exposed to initial combination therapy. Nevertheless, selected patients with PAH with LHD risk factors who were treated with initial combination therapy derived similar functional response compared with the reference group. Further studies are needed to phenotype patients with PAH with cardiopulmonary comorbidities who may benefit from initial combination therapy.


Assuntos
Hipertensão Pulmonar , Hipertensão Arterial Pulmonar , Humanos , Quimioterapia Combinada , Tadalafila/uso terapêutico , Hipertensão Pulmonar/tratamento farmacológico , Hipertensão Pulmonar/epidemiologia , Hipertensão Pulmonar/etiologia , Hipertensão Pulmonar Primária Familiar/complicações , Fatores de Risco de Doenças Cardíacas
7.
Open Heart ; 10(2)2023 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-37935560

RESUMO

BACKGROUND: Peak oxygen pulse (O2pulse=oxygen consumption/heart rate) is calculated by the product of stroke volume (SV) and oxygen extraction. It has been shown to be reduced in patients with a Fontan circulation. However, in the Fontan population, it may be a poor marker of SV. We propose that the slope of the O2 pulse curve may be more reflective of SV during exercise. METHODS: We analysed cardiopulmonary exercise test data in 22 subjects with a Fontan circulation (cohort A) and examined the association between peak SV during exercise (aortic flow measured on exercise cardiac MRI), and O2 pulse parameters (absolute O2 pulse and O2 pulse slopes up to anaerobic threshold (AT) and peak exercise). In a separate Fontan cohort (cohort B, n=131), associations between clinical characteristics and O2 pulse kinetics were examined. RESULTS: In cohort A, peak aortic flow was moderately and significantly associated with O2pulseslopePEAK (r=0.47, p=0.02). However, neither absolute O2pulseAT nor O2pulsePEAK was significantly associated with peak aortic flow. In cohort B, O2pulseslopePEAK and O2pulseslopeAT were not significantly associated with clinical parameters, apart from a weak association with forced vital capacity. CONCLUSION: The slope of the O2 pulse curve to peak exercise may be more reflective of peak SV in the Fontan population than a single peak O2 pulse value.


Assuntos
Técnica de Fontan , Humanos , Técnica de Fontan/efeitos adversos , Volume Sistólico/fisiologia , Frequência Cardíaca/fisiologia , Teste de Esforço , Oxigênio
8.
NPJ Genom Med ; 8(1): 29, 2023 Oct 11.
Artigo em Inglês | MEDLINE | ID: mdl-37821546

RESUMO

There is an incomplete understanding of the burden of splice-disrupting variants in definitively associated inherited heart disease genes and whether these genes can amplify from blood RNA to support functional confirmation of splicing outcomes. We performed burden testing of rare splice-disrupting variants in people with inherited heart disease and sudden unexplained death compared to 125,748 population controls. ClinGen definitively disease-associated inherited heart disease genes were amplified using RNA extracted from fresh blood, derived cardiomyocytes, and myectomy tissue. Variants were functionally assessed and classified for pathogenicity. We found 88 in silico-predicted splice-disrupting variants in 128 out of 1242 (10.3%) unrelated participants. There was an excess burden of splice-disrupting variants in PKP2 (5.9%), FLNC (2.7%), TTN (2.8%), MYBPC3 (8.2%) and MYH7 (1.3%), in distinct cardiomyopathy subtypes, and KCNQ1 (3.6%) in long QT syndrome. Blood RNA supported the amplification of 21 out of 31 definitive disease-associated inherited heart disease genes. Our functional studies confirmed altered splicing in six variants. Eleven variants of uncertain significance were reclassified as likely pathogenic based on functional studies and six were used for cascade genetic testing in 12 family members. Our study highlights that splice-disrupting variants are a significant cause of inherited heart disease, and that analysis of blood RNA confirms splicing outcomes and supports variant pathogenicity classification.

9.
J Am Coll Cardiol ; 81(11): 1035-1045, 2023 03 21.
Artigo em Inglês | MEDLINE | ID: mdl-36922089

RESUMO

BACKGROUND: Genetic defects in the RAS/mitogen-activated protein kinase pathway are an important cause of hypertrophic cardiomyopathy (RAS-HCM). Unlike primary HCM (P-HCM), the risk of sudden cardiac death (SCD) and long-term survival in RAS-HCM are poorly understood. OBJECTIVES: The study's objective was to compare transplant-free survival, incidence of SCD, and implantable cardioverter-defibrillator (ICD) use between RAS-HCM and P-HCM patients. METHODS: In an international, 21-center cohort study, we analyzed phenotype-positive pediatric RAS-HCM (n = 188) and P-HCM (n = 567) patients. The between-group differences in cumulative incidence of all outcomes from first evaluation were compared using Gray's tests, and age-related hazard of all-cause mortality was determined. RESULTS: RAS-HCM patients had a lower median age at diagnosis compared to P-HCM (0.9 years [IQR: 0.2-5.0 years] vs 9.8 years [IQR: 2.0-13.9 years], respectively) (P < 0.001). The 10-year cumulative incidence of SCD from first evaluation was not different between RAS-HCM and P-HCM (4.7% vs 4.2%, respectively; P = 0.59). The 10-year cumulative incidence of nonarrhythmic deaths or transplant was higher in RAS-HCM compared with P-HCM (11.0% vs 5.4%, respectively; P = 0.011). The 10-year cumulative incidence of ICD insertions, however, was 5-fold lower in RAS-HCM compared with P-HCM (6.9% vs 36.6%; P < 0.001). Nonarrhythmic deaths occurred primarily in infancy and SCD primarily in adolescence. CONCLUSIONS: RAS-HCM was associated with a higher incidence of nonarrhythmic death or transplant but similar incidence of SCD as P-HCM. However, ICDs were used less frequently in RAS-HCM compared to P-HCM. In addition to monitoring for heart failure and timely consideration of advanced heart failure therapies, better risk stratification is needed to guide ICD practices in RAS-HCM.


Assuntos
Cardiomiopatia Hipertrófica , Desfibriladores Implantáveis , Insuficiência Cardíaca , Humanos , Estudos de Coortes , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Desfibriladores Implantáveis/efeitos adversos , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/diagnóstico , Insuficiência Cardíaca/complicações , Fatores de Risco , Medição de Risco
10.
J Pediatr ; 257: 113332, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36708874

RESUMO

OBJECTIVES: To define the baseline characteristics of long-term tube-fed (TF) single ventricle patients, investigate associations between long-term enteral tube feeding and growth, and determine associations with long-term outcomes after Fontan procedure. STUDY DESIGN: We performed a retrospective cohort study of patients in the Australia and New Zealand Fontan Registry undergoing treatment at the Royal Children's Hospital, the Children's Hospital at Westmead, Royal Melbourne Hospital, and Royal Prince Alfred Hospital from 1981 to 2018. Patients were defined as TF or non-tube-fed (NTF) based on enteral tube feeding at the age of 90 days. Feeding groups were compared regarding body mass index (BMI) trajectory, BMI at last follow-up, and long-term incidence of severe Fontan failure. RESULTS: Of 390 patients (56 [14%] TF, 334 [86%] NTF), TF was associated with right ventricular dominance, hypoplastic left heart syndrome, Norwood procedure, increased procedures prior to Fontan, extracardiac conduit Fontan, Fontan fenestration, and atrioventricular valve repair/replacement. TF patients were less likely to be in the higher compared with lowest 0-6 month BMI trajectory (P < .01; P = .03), had lower 6 month weight-for-age z-scores (P < .01) and length-for-age z-scores (P = .01). TF were less likely to be overweight/obese at pediatric follow-up (hazard ratio [HR] = 0.31, 95% CI: 0.12-0.80; P = .02) and more likely to be underweight at adult follow-up (HR = 16.51; 5% CI: 2.70-101.10; P < .01). TF compared with NTF was associated with increased risk of severe Fontan failure (HR = 4.13; 95% CI = 1.65-10.31; P < .01). CONCLUSIONS: Prolonged infant enteral tube feeding is an independent marker of poor growth and adverse clinical outcomes extending long-term post-Fontan procedure.


Assuntos
Técnica de Fontan , Cardiopatias Congênitas , Síndrome do Coração Esquerdo Hipoplásico , Coração Univentricular , Adulto , Criança , Humanos , Lactente , Estudos Retrospectivos , Nutrição Enteral , Resultado do Tratamento , Síndrome do Coração Esquerdo Hipoplásico/cirurgia , Técnica de Fontan/efeitos adversos , Cardiopatias Congênitas/cirurgia , Cardiopatias Congênitas/etiologia
11.
Semin Thorac Cardiovasc Surg ; 35(3): 549-561, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-35594979

RESUMO

Repair of tetralogy of Fallot (TOF) can be complicated by the presence of an anomalous coronary artery (ACA) crossing the right ventricular outflow tract (RVOT). This study sought to evaluate the late outcomes of a policy of transatrial-transpulmonary repair for this condition. The transatrial-transpulmonary approach was used in 864 consecutive TOF repairs between 1993 and 2018 at a single institution, of which 55 (6%) patients had an ACA. Nineteen (35%,19/55) patients underwent prior palliation. Late survival and freedom from reoperations were compared with the general cohort of 809 patients who underwent complete repair during the same period. Early mortality was 2% (1/55). Median follow-up was 15.6 years. Late mortality was 6% (3/54). Absence of a preoperative diagnosis of ACA was not a risk factor for worse outcomes in terms of late re-interventions, acute coronary syndrome, residual RVOT gradient, and late mortality. Survival was 91% (95% confidence interval [CI]: 77-96%) at 20 years and was comparable to the general TOF cohort (95%, 95% CI: 90-98%, P = 0.12). Actuarial freedom from any re-intervention was 46% (95% CI: 27-62%) at 20 years, which was also comparable to the general cohort (31%, 95% CI: 20-42%, P = 0.19). The presence of an ACA does not appear to affect late survival or re-intervention rates in patients undergoing transatrial-transpulmonary repair of TOF.

12.
Circulation ; 147(9): 718-727, 2023 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-36335467

RESUMO

BACKGROUND: Hypertrophic cardiomyopathy (HCM) can be associated with an abnormal exercise response. In adults with HCM, abnormal results on exercise stress testing are predictive of heart failure outcomes. Our goal was to determine whether an abnormal exercise response is associated with adverse outcomes in pediatric patients with HCM. METHODS: In an international cohort study including 20 centers, phenotype-positive patients with primary HCM who were <18 years of age at diagnosis were included. Abnormal exercise response was defined as a blunted blood pressure response and new or worsened ST- or T-wave segment changes or complex ventricular ectopy. Sudden cardiac death (SCD) events were defined as a composite of SCD and aborted sudden cardiac arrest. Using Kaplan-Meier survival, competing outcomes, and Cox regression analyses, we analyzed the association of abnormal exercise test results with transplant and SCD event-free survival. RESULTS: Of 724 eligible patients, 630 underwent at least 1 exercise test. There were no major differences in clinical characteristics between those with or without an exercise test. The median age at exercise testing was 13.8 years (interquartile range, 4.7 years); 78% were male and 39% were receiving beta-blockers. A total of 175 (28%) had abnormal test results. Patients with abnormal test results had more severe septal hypertrophy, higher left atrial diameter z scores, higher resting left ventricular outflow tract gradient, and higher frequency of myectomy compared with participants with normal test results (P<0.05). Compared with normal test results, abnormal test results were independently associated with lower 5-year transplant-free survival (97% versus 88%, respectively; P=0.005). Patients with exercise-induced ischemia were most likely to experience all-cause death or transplant (hazard ratio, 4.86 [95% CI, 1.69-13.99]), followed by those with an abnormal blood pressure response (hazard ratio, 3.19 [95% CI, 1.32-7.71]). Exercise-induced ischemia was also independently associated with lower SCD event-free survival (hazard ratio, 3.32 [95% CI, 1.27-8.70]). Exercise-induced ectopy was not associated with survival. CONCLUSIONS: Exercise abnormalities are common in childhood HCM. An abnormal exercise test result was independently associated with lower transplant-free survival, especially in those with an ischemic or abnormal blood pressure response with exercise. Exercise-induced ischemia was also independently associated with SCD events. These findings argue for routine exercise testing in childhood HCM as part of ongoing risk assessment.


Assuntos
Cardiomiopatia Hipertrófica , Teste de Esforço , Masculino , Feminino , Humanos , Estudos de Coortes , Prevalência , Morte Súbita Cardíaca/epidemiologia , Morte Súbita Cardíaca/etiologia , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/cirurgia , Arritmias Cardíacas/etiologia , Fatores de Risco
13.
Heart Lung Circ ; 32(2): 156-165, 2023 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-36503731

RESUMO

BACKGROUND: Pulmonary arterial hypertension (PAH) has a progressive, unremitting clinical course. Vasoreactivity testing (VdT) during right heart catheterisation (RHC) identifies a subgroup with excellent long-term response to calcium channel blockade (CCB). Reporting on these patients is limited. Established in 2011, the Pulmonary Hypertension Society of Australia and New Zealand (PHSANZ) registry offers the opportunity to assess the frequency of VdT during RHC, treatment and follow up of PAH patients. METHODS: Registry data from 3,972 PAH patients with index RHC revealed 1,194 VdT appropriate patients. Data was analysed in three groups: 1) VdT+CCB+: VdT positive, CCB treated; 2) VdT+CCB-: VdT positive, no CCB prescribed, 3) VdT-/noVdT: VdT negative, or VdT not tested. Data was reviewed for adherence to guidelines, clinical response (World Health Organization functional class [WHO FC], 6-minute-walk-distance [6MWD], RHC), and outcomes (survival or lung transplantation). RESULTS: Patients included had idiopathic (IPAH=1,087), heritable (HPAH=67) and drug or toxin-induced PAH (DPAH=40). A VdT was performed in 22% (268/1,194), with incomplete data in 26% (70/268); 28% (55/198) were VdT+. Analysis group allocation was: VdT+CCB+ (33/55), VdT+CCB- (22/55), VdT- (143)/noVdT (996). From patients with 1-year data VdT+CCB+ and VdT-/noVdT patients improved WHO FC, 6MWD and cardiac index (CI); VdT+CCB- data remained similar. Within the VdT+CCB+ group, 30% (10/33) were long-term CCB responders with a 100% 5-year survival; non-responders had a 61% survival at 5.4 years. Long-term responders were younger at diagnosis (40 yrs vs 54 yrs). CONCLUSION: Use of VdT testing and documentation is poor in this contemporary patient cohort. Nonetheless, survival in VdT+CCB+ patients from the PHSANZ registry is excellent, supporting guidelines promoting VdT testing. Strategies to promote the use of VdT are warranted.


Assuntos
Hipertensão Pulmonar , Hipertensão Arterial Pulmonar , Humanos , Bloqueadores dos Canais de Cálcio/uso terapêutico , Hipertensão Arterial Pulmonar/terapia , Hipertensão Arterial Pulmonar/tratamento farmacológico , Hipertensão Pulmonar Primária Familiar , Hipertensão Pulmonar/terapia , Hipertensão Pulmonar/tratamento farmacológico , Cateterismo Cardíaco
14.
Ann Thorac Surg ; 115(2): 445-451, 2023 02.
Artigo em Inglês | MEDLINE | ID: mdl-36155772

RESUMO

BACKGROUND: The optimal strategy for pulmonary atresia with ventricular septal defect (PA-VSD) without major aortopulmonary collateral arteries is yet to be defined. It remains unclear how primary complete repair compares with staged repair. METHODS: This study reviewed the records of 107 patients with PA-VSD who were managed with systemic-to-pulmonary shunts from February 1989 to November 2019. Tables presenting summary statistics of patient and surgical data and Kaplan-Meier curves showing repair, mortality, and reoperation were created. Logistic regression analysis was performed to identify risk factors for repair, morbidity, and mortality. RESULTS: A total of 91 (85%) patients achieved complete repair at a median age of 1 year (interquartile range [IQR], 8-20 months). Survival was as follows: 97 (90%) patients at 6 months, 91 (85%) at 20 months, and 87 (81%) at 10 years. A shunt diameter of 3.5 mm or less (P = .006) and shunt after 2009 (P < .001) were associated with earlier progression to complete repair. A shunt diameter of 3.5 mm or less was an independent risk factor for interstage morbidity (hazard ratio, 4.5; IQR, 1.1-18.5; P = .039), but it was not associated with complete repair (P = .75) or mortality (P = .62). The median follow-up period was 10.5 years (IQR, 3.6-18.8 years) from birth. CONCLUSIONS: The complete repair and long-term survival rates of staged PA-VSD repair are high. The use of smaller shunts has resulted in earlier complete repair and is associated with increased risk of morbidity but not mortality.


Assuntos
Comunicação Interventricular , Defeitos dos Septos Cardíacos , Atresia Pulmonar , Humanos , Lactente , Artéria Pulmonar/cirurgia , Resultado do Tratamento , Estudos Retrospectivos , Defeitos dos Septos Cardíacos/cirurgia , Circulação Colateral
15.
J Thorac Cardiovasc Surg ; 165(6): 2169-2180.e3, 2023 06.
Artigo em Inglês | MEDLINE | ID: mdl-36116957

RESUMO

BACKGROUND: The optimal management strategy for symptomatic young infants with tetralogy of Fallot (TOF) is yet to be determined. We aimed to evaluate the long-term outcomes of a staged approach with initial shunt palliation followed by complete repair. METHODS: Between January 1993 and July 2021, 160 children with TOF underwent a systemic-to-pulmonary shunt at our institution, including 65 neonates (41%). The mean duration of follow-up was 12.3 ± 8.1 years. RESULTS: Hospital mortality was 3% (4 of 160), all occurring in patients with a shunt size-to-weight ratio ≥1.2 mm/kg. Composite morbidity-defined as cardiac arrest, postoperative mechanical circulatory support, or unplanned reoperation-occurred in 21% (33 of 160). On multivariable analysis, a shunt size-to-weight ratio ≥1.2 mm/kg and prematurity were independent predictors of composite morbidity. Interstage mortality was 3% (4 of 156). A limited transannular patch was used in 75% (113 of 150) of TOF repairs. Actuarial survival at 20 years after shunt was 90% (95% confidence interval [CI], 79%-95%). Actuarial freedom from reinterventions at 20 years after TOF repair was 40% (95% CI, 28%-52%). Neonates had comparable composite morbidity, mortality, and late risk of reinterventions to older children. CONCLUSIONS: Staged repair of TOF in symptomatic young infants results in low mortality but high rates of reinterventions at long-term follow-up. A shunt size-to-weight ratio ≥1.2 mm/kg is a significant risk factor for mortality and morbidity prior to complete repair. Neonates undergoing shunt insertion have comparable outcomes to older children.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Tetralogia de Fallot , Lactente , Recém-Nascido , Criança , Humanos , Adolescente , Tetralogia de Fallot/cirurgia , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/métodos , Reoperação , Cuidados Paliativos/métodos , Fatores de Risco , Resultado do Tratamento , Estudos Retrospectivos
16.
JTCVS Open ; 16: 825-835, 2023 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38204641

RESUMO

Objectives: Antegrade pulmonary blood flow (APBF) may be left or eliminated at the time of the superior cavopulmonary connection (SCPC). Our aim was to assess the impact of leaving native APBF at the SCPC on long-term Fontan outcomes. Methods: In the Australia and New Zealand Fontan Registry (1985-2021), 587 patients had pre-existing native APBF at the SCPC. At the SCPC, 302 patients had APBF eliminated (APBF-) and 285 patients had APBF maintained (APBF+). The incidence of Fontan failure (composite end point of Fontan takedown, transplant, plastic bronchitis, protein losing enteropathy and death) and atrioventricular (AV) valve repair/replacement post SCPC was compared between the 2 groups. Results: Sex, predominant-ventricle morphology, isomerism, primary diagnosis, and age/type of Fontan were similar between groups. APBF- versus APBF+ had a higher incidence of arch obstruction/coarctation (17% vs 7%) and previous pulmonary artery band (54% vs 45%) and a lower rate of Fontan fenestration (27% vs 41%). The risk of Fontan failure was similar between the 2 groups (hazard ratio [HR], 1.01; 95% confidence interval [CI], 0.58-1.78; P = .96). The risk of AV-valve repair/replacement was greater in APBF+ versus APBF- (HR, 2.32; CI, 1.13-4.75; P = .022). The risk of AV-valve repair/replacement remained after adjustment for arch obstruction/coarctation, previous pulmonary artery band and Fontan fenestration (HR, 2.27; CI, 1.07-4.81; P = .033). Conclusions: Maintaining APBF at the time of the SCPC does not impact the risk of Fontan failure but may increase the incidence of AV-valve repair and/or replacement post-SCPC.

18.
Circ Genom Precis Med ; 15(6): e003686, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36252119

RESUMO

BACKGROUND: The causes of cardiomyopathy in children are less well described than in adults. We evaluated the clinical diagnoses and genetic causes of childhood cardiomyopathy and outcomes of cascade genetic testing in family members. METHODS: We recruited children from a pediatric cardiology service or genetic heart diseases clinic. We performed Sanger, gene panel, exome or genome sequencing and classified variants for pathogenicity using American College of Molecular Genetics and Genomics guidelines. RESULTS: Cardiomyopathy was diagnosed in 221 unrelated children aged ≤18 years. Children mostly had hypertrophic cardiomyopathy (n=98, 44%) or dilated cardiomyopathy (n=89, 40%). The highest genetic testing diagnostic yields were in restrictive cardiomyopathy (n=16, 80%) and hypertrophic cardiomyopathy (n=65, 66%), and lowest in dilated cardiomyopathy (n=26, 29%) and left ventricular noncompaction (n=3, 25%). Pathogenic variants were primarily found in genes encoding sarcomere proteins, with TNNT2 and TNNI3 variants associated with more severe clinical outcomes. Ten children (4.5%) had multiple pathogenic variants. Genetic test results prompted review of clinical diagnosis in 14 families with syndromic, mitochondrial or metabolic gene variants. Cascade genetic testing in 127 families confirmed 24 de novo variants, recessive inheritance in 8 families, and supported reclassification of 12 variants. CONCLUSIONS: Genetic testing of children with cardiomyopathy supports a precise clinical diagnosis, which may inform prognosis.


Assuntos
Cardiomiopatias , Cardiomiopatia Dilatada , Cardiomiopatia Hipertrófica , Cardiopatias , Adulto , Criança , Humanos , Cardiomiopatia Dilatada/genética , Cardiomiopatias/genética , Testes Genéticos , Cardiomiopatia Hipertrófica/genética , Cardiopatias/genética
19.
J Am Heart Assoc ; 11(18): e025931, 2022 09 20.
Artigo em Inglês | MEDLINE | ID: mdl-36073652

RESUMO

Background Patients with a single ventricle who experience early life growth failure suffer high morbidity and mortality in the perisurgical period. However, long-term implications of poor infant growth, as well as associations between body mass index (BMI) and outcome in adulthood, remain unclear. We aimed to model BMI trajectories of patients with a single ventricle undergoing a Fontan procedure to determine trajectory-based differences in baseline characteristics and long-term clinical outcomes. Methods and Results We performed a retrospective analysis of medical records from patients in the Australia and New Zealand Fontan Registry receiving treatment at the Royal Children's Hospital, The Children's Hospital at Westmead, Royal Melbourne Hospital, and Royal Prince Alfred Hospital from 1981 to 2018. BMI trajectories were modeled in 496 patients using latent class growth analysis from 0 to 6 months, 6 to 60 months, and 5 to 16 years. Trajectories were compared regarding long-term incidence of severe Fontan failure (defined as mortality, heart transplantation, Fontan takedown, or New York Heart Association class III/IV heart failure). Three trajectories were found for male and female subjects at each age group-lower, middle, higher. Subjects in the lower trajectory at 0 to 6 months were more likely to have an atriopulmonary Fontan and experienced increased mortality long term. No association was found between higher BMI trajectory, current BMI, and long-term outcome. Conclusions Poor growth in early life correlates with increased long-term severe Fontan failure. Delineation of distinct BMI trajectories can be used in larger and older cohorts to find optimal BMI targets for patient outcome.


Assuntos
Técnica de Fontan , Cardiopatias Congênitas , Adulto , Austrália/epidemiologia , Índice de Massa Corporal , Criança , Feminino , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/cirurgia , Humanos , Lactente , Masculino , Estudos Retrospectivos , Resultado do Tratamento
20.
Int J Cardiol ; 364: 38-43, 2022 10 01.
Artigo em Inglês | MEDLINE | ID: mdl-35714716

RESUMO

BACKGROUND: Fontan patients have abnormal lung function, in particular restrictive lung disease and low diffusing capacity of carbon monoxide (DLCO). We sought to further characterise these abnormalities with detailed pulmonary function testing and examine associations with clinical parameters. METHODS: 132 Fontan patients across Australia and New Zealand underwent spirometry, with 126 subjects included in final analyses. Measurement of diffusion capacity (DLCO) including its components (alveolar volume (VA) and rate of uptake of CO (KCO)) and oscillometry (reactance (X5) and resistance (R5)) were assessed in a subset of Fontan patients (n = 44) and healthy controls (n = 12). Double diffusion (to assess diffusing capacity of nitric oxide (DLNO), capillary blood volume (Vc), alveolar capillary membrane function (DmCO)) was performed in Fontan patients (n = 18) and healthy controls (n = 12). RESULTS: FEV1 and FVC z-scores were low in Fontan subjects (mean - 1.67 ± 1.24 and - 1.61 ± 1.29, respectively) and correlated with exercise capacity. Compared to controls, z-scores for X5, DLCO, KCO, VA and DLNO were significantly lower in Fontan patients. R5, Vc and DmCO z-scores were preserved. X5 was associated with VA (r = 0.41,p = 0.009) and DmCO (r = 0.61,p = 0.008). Older age at Fontan completion was associated with lower z-scores for FEV1 (r = -0.46,p = 0.002), FVC (r = -0.47,p = 0.002), X5 (r = -0.32,p = 0.033) and VA (r = -0.36,p = 0.022). CONCLUSION: Fontan patients have a reduced DLCO which is largely driven by low VA. Lung stiffness (X5) is increased which is associated with VA and DmCO. These parameters negatively correlate with older age of Fontan completion suggesting that earlier Fontan completion may have a beneficial effect on lung function.


Assuntos
Monóxido de Carbono , Capacidade de Difusão Pulmonar , Idoso , Humanos , Pulmão , Medidas de Volume Pulmonar , Espirometria
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