RESUMEN
A 35-year-old woman was initially misdiagnosed with a muscular ventricular septal defect but was later correctly diagnosed with a double-chambered left ventricle following evaluation by echocardiography and cardiac computed tomography.
Asunto(s)
Errores Diagnósticos , Ecocardiografía , Defectos del Tabique Interventricular , Ventrículos Cardíacos , Humanos , Femenino , Defectos del Tabique Interventricular/diagnóstico por imagen , Defectos del Tabique Interventricular/diagnóstico , Adulto , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/anomalías , Ecocardiografía/métodos , Diagnóstico Diferencial , Tomografía Computarizada por Rayos X/métodosRESUMEN
BACKGROUND: Pregnant patients with single ventricle (SV) physiology carry a high risk of spontaneous pregnancy loss (SPL), yet the clinical factors contributing to this risk are not well defined. METHODS: Single-centre retrospective study of pregnant patients with SV physiology seen in cardio-obstetrics clinic over the past 20 years with chart review of their obstetric history. Patients without a known pregnancy outcome were excluded. Univariable Bayesian panel-data random effects logit was used to model the risk of SPL. RESULTS: The study included 20 patients with 44 pregnancies, 20 live births, 21 SPL and 3 elective abortions. All had Fontan palliation except for two with Waterston and Glenn shunts. 10 (50%) had a single right ventricle (RV). 14 (70%) had moderate or severe atrioventricular valve regurgitation (AVVR). Atrial arrhythmias were present in 16 (80%), Fontan-associated liver disease (FALD) in 15 (75%) and FALD stage 4 in 9 (45%). 12 (60%) were on anticoagulation. Average first-trimester oxygen saturation was 93.8% for live births and 90.8% for SPL. The following factors were associated with higher odds of SPL: RV morphology (OR 1.72 (95% credible interval (CrI) 1.0008-2.70)), moderate or severe AVVR (OR 1.64 (95% CrI 1.003-2.71)) and reduced first-trimester oxygen saturation (OR 1.83 (95% CrI 1.03-2.71) for each per cent decrease in O2 saturation. CONCLUSION: Pregnant patients with SV physiology, particularly those with RV morphology, moderate or severe AVVR, and lower first-trimester oxygen saturations, have a higher risk of SPL. Identifying these clinical risk factors can guide preconception counselling by the cardio-obstetrics team.
Asunto(s)
Aborto Espontáneo , Ventrículos Cardíacos , Complicaciones Cardiovasculares del Embarazo , Humanos , Femenino , Embarazo , Estudios Retrospectivos , Adulto , Factores de Riesgo , Complicaciones Cardiovasculares del Embarazo/fisiopatología , Complicaciones Cardiovasculares del Embarazo/diagnóstico , Aborto Espontáneo/etiología , Aborto Espontáneo/epidemiología , Aborto Espontáneo/diagnóstico , Ventrículos Cardíacos/fisiopatología , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/anomalías , Procedimiento de Fontan/efectos adversos , Medición de Riesgo , Corazón Univentricular/cirugía , Corazón Univentricular/fisiopatología , Corazón Univentricular/complicaciones , Adulto JovenRESUMEN
BACKGROUND: Despite a rigorous screening process, including cardiac catheterization, a subset of patients with a single right ventricle (SRV) demonstrates suboptimal short-term outcomes after the Fontan operation. The goal of this study was to perform a comprehensive assessment of diastolic function in pre-Fontan patients with an SRV using invasive reference-standard measures and determine their associations with post-Fontan outcomes. METHODS AND RESULTS: Children aged 2 to 6 years with SRV physiology undergoing pre-Fontan heart catheterization were recruited prospectively. Patients were divided into those who had an optimal or suboptimal outcome. A suboptimal outcome was defined as length of stay ≥14 days or heart transplant/cardiac death in first year after Fontan. Patients underwent pressure-volume loop analysis using reference-standard methods. The measure of ventricular stiffness, ß, was obtained via preload reduction. Cardiac magnetic resonance imaging for extracellular volume and serum draws for matrix metalloproteinase activity were performed. Of 19 patients with an SRV, 9 (47%) had a suboptimal outcome. Mean age was 4.2±0.7 years. Patients with suboptimal outcomes had lower ventricular stiffness (0.021 [0.009-0.049] versus 0.090 [0.031-0.118] mL-1; P=0.02), lower extracellular volume (25% [28%-32%] versus 31% [28%-33%]; P=0.02), and lower matrix metalloproteinase-2 (90 [79-104] versus 108 [79-128] ng/mL; P=0.01) compared with patients with optimal outcomes. The only invasive measure that had an association with suboptimal outcome was ß (P=0.038). CONCLUSIONS: Patients with an SRV with suboptimal outcome after the Fontan operation had lower ventricular stiffness and evidence of maladaptive extracellular matrix metabolism compared with patients with optimal outcome. This appears to be a novel phenotype that may have important clinical implications and requires further study.
Asunto(s)
Procedimiento de Fontan , Ventrículos Cardíacos , Fenotipo , Humanos , Procedimiento de Fontan/efectos adversos , Preescolar , Masculino , Femenino , Niño , Ventrículos Cardíacos/fisiopatología , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/anomalías , Estudios Prospectivos , Resultado del Tratamiento , Cateterismo Cardíaco , Función Ventricular Derecha/fisiología , Trasplante de Corazón , Metaloproteinasa 2 de la Matriz/sangre , Corazón Univentricular/cirugía , Corazón Univentricular/fisiopatología , Corazón Univentricular/diagnóstico por imagen , Cardiopatías Congénitas/cirugía , Cardiopatías Congénitas/fisiopatología , Factores de TiempoRESUMEN
BACKGROUND: Reinterventions may influence the outcomes of children with functionally single-ventricle (f-SV) congenital heart disease. METHODS AND RESULTS: We undertook a retrospective cohort study of children starting treatment for f-SV between 2000 and 2018 in England, using the national procedure registry. Patients were categorized based on whether they survived free of transplant beyond 1 year of age. Among patients who had transplant-free survival beyond 1 year of age, we explored the relationship between reinterventions in infancy and the outcomes of survival and Fontan completion, adjusting for complexity. Of 3307 patients with f-SV, 909 (27.5%), had no follow-up beyond 1 year of age, among whom 323 (35.3%) had ≥1 reinterventions in infancy. A total of 2398 (72.5%) patients with f-SV had transplant-free survival beyond 1 year of age, among whom 756 (31.5%) had ≥1 reinterventions in infancy. The 5-year transplant-free survival and cumulative incidence of Fontan, among those who survived infancy, were 93.4% (95% CI, 92.4%-94.4%) and 79.3% (95% CI, 77.4%-81.2%), respectively. Both survival and Fontan completion were similar for those with a single reintervention and those who had no reinterventions. Patients who had >1 additional surgery (adjusted hazard ratio, 3.93 [95% CI, 1.87-8.27] P<0.001) had higher adjusted risk of mortality. Patients who had >1 additional interventional catheter (adjusted subdistribution hazard ratio, 0.71 [95% CI, 0.52-0.96] P=0.03) had a lower likelihood of achieving Fontan. CONCLUSIONS: Among children with f-SV, the occurrence of >1 reintervention in the first year of life, especially surgical reinterventions, was associated with poorer prognosis later in childhood.
Asunto(s)
Cuidados Paliativos , Reoperación , Humanos , Masculino , Inglaterra/epidemiología , Femenino , Estudios Retrospectivos , Gales/epidemiología , Lactante , Preescolar , Reoperación/estadística & datos numéricos , Trasplante de Corazón/estadística & datos numéricos , Sistema de Registros , Procedimiento de Fontan/mortalidad , Corazón Univentricular/cirugía , Corazón Univentricular/mortalidad , Corazón Univentricular/fisiopatología , Ventrículos Cardíacos/anomalías , Ventrículos Cardíacos/cirugía , Ventrículos Cardíacos/fisiopatología , Recién Nacido , Cardiopatías Congénitas/cirugía , Cardiopatías Congénitas/mortalidad , Factores de Tiempo , Resultado del TratamientoRESUMEN
Although the terms "single ventricle" and "univentricular heart" are frequently used to describe a variety of complex congenital heart defects, in fact, nearly all hearts have two ventricles, although one of the two may be too small to be functional. A better term for these hearts would therefore be "functional single ventricle."
Asunto(s)
Atresia Tricúspide , Corazón Univentricular , Humanos , Ventrículos Cardíacos/fisiopatología , Ventrículos Cardíacos/anomalías , Atresia Tricúspide/cirugía , Atresia Tricúspide/fisiopatología , Atresia Tricúspide/diagnóstico por imagen , Corazón Univentricular/cirugía , Corazón Univentricular/fisiopatología , Corazón Univentricular/diagnóstico por imagen , Corazón Univentricular/terapia , Corazón Univentricular/genéticaRESUMEN
Uhl's anomaly is characterized by complete or partial absence of right ventricular myocardium. We describe a case of prenatally diagnosed Uhl's anomaly with biventricular dysfunction which was quantified with speckle tracking echocardiography using a novel fetal heart quantification (fetal HQ) technique.
Asunto(s)
Ecocardiografía , Corazón Fetal , Cardiopatías Congénitas , Ventrículos Cardíacos , Ultrasonografía Prenatal , Humanos , Femenino , Embarazo , Ultrasonografía Prenatal/métodos , Corazón Fetal/diagnóstico por imagen , Corazón Fetal/fisiopatología , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/fisiopatología , Ecocardiografía/métodos , Adulto , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/anomalías , Ventrículos Cardíacos/fisiopatología , Cardiomiopatía DilatadaRESUMEN
Background and aims of the study A functionally single ventricle (FSV) refers to a group of congenital heart defects that are not amenable for biventricular correction. The Fontan operation is utilized as surgical treatment for most of FSV patients. The evaluation of FSV function is extremely difficult due to its unique pathophysiology. This study aimed to explore the efficacy of speckle tracking echocardiography (STE) parameters measured at rest and during exercise for comprehensive assessment of univentricular heart. METHODS: We enrolled 37 patients with a functionally single ventricle after the Fontan operation, hospitalized in the Department of Congenital Heart Defects between years 2019 and 2021.The echocardiographic stress tests were performed in the Echocardiography Laboratory of the Congenital Heart Defects Department. The study was conducted on a bicycle ergometer in a semi-recumbent position. The parameters obtained by speckle tracking echocardiography (STE): the longitudinal strain of the FSV free wall (Æ) and the longitudinal strain of myocardial layers: subendocardial, medial and subepicardial were analyzed. A transmural longitudinal strain gradient (TG) was calculated as the difference between longitudinal deformation of the subendocardial and subepicardial layers. Current results of cardiac magnetic resonance imaging (CMR) and cardio-pulmonary test (CPET) were also incorporated. Demographic data, past interventions, pharmacological treatment and comorbidities were extracted from medical records. RESULTS: Æ at rest and during exercise were not related to the parameters of physical capacity obtained on CPET nor to the CMR results. The transmural strain gradient was dependent on physical performance parameter- peak oxygen uptake- and related to the FSV ejection fraction calculated by magnetic resonance imaging. CONCLUSIONS: The transmural strain gradient and FSV free wall strain are readily measurable and suitable for evaluating single ventricle function. The TG is positively correlated with peak oxygen uptake during the cardiopulmonary test and with the ejection fraction derived from cardiac magnetic resonance imaging. The applicability of these findings in patients undergoing the Fontan procedure warrants further exploration.
Asunto(s)
Ecocardiografía , Procedimiento de Fontan , Humanos , Procedimiento de Fontan/métodos , Masculino , Femenino , Ecocardiografía/métodos , Adolescente , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/fisiopatología , Ventrículos Cardíacos/anomalías , Adulto , Corazón Univentricular/cirugía , Corazón Univentricular/diagnóstico por imagen , Cardiopatías Congénitas/cirugía , Cardiopatías Congénitas/diagnóstico por imagen , Niño , Adulto Joven , Prueba de Esfuerzo/métodos , Cuidados Paliativos/métodosRESUMEN
Ventricular septal defects (VSD) with outflow tract (OFT) malalignment are a common group of congenital heart diseases with varying severity. The developmental process of these defects is challenging to understand due to the complex nature of cardiac morphogenesis and the difficulties in visualizing the temporal and spatial changes that occur during pathogenesis. However, recent advancements in imaging techniques, such as high-resolution episcopic microscopy, have provided valuable insights into the normal septation of ventricular chambers and OFT alignment. Building upon this knowledge, we have utilized lightsheet microscopy, another innovative imaging method, to further investigate the developmental processes that lead to abnormal formation of the ventricular septum and the malalignment of arterial roots with the ventricular chambers. Our study highlights endocardial cushion hypoplasia and insufficient rotation of the outflow tract as two interrelated central factors contributing to the pathogenesis of these defects. This finding has the potential to enhance our understanding of the etiology of congenital heart diseases and may contribute to the development of improved diagnostic and therapeutic strategies in the future.
Asunto(s)
Defectos del Tabique Interventricular , Animales , Humanos , Defectos del Tabique Interventricular/diagnóstico por imagen , Defectos del Tabique Interventricular/patología , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/anomalías , Ventrículos Cardíacos/patologíaAsunto(s)
Oxigenación por Membrana Extracorpórea , Procedimientos de Norwood , Cuidados Posoperatorios , Humanos , Oxigenación por Membrana Extracorpórea/métodos , Procedimientos de Norwood/métodos , Cuidados Posoperatorios/métodos , Recién Nacido , Ventrículos Cardíacos/cirugía , Ventrículos Cardíacos/anomalías , Corazón Univentricular/cirugíaRESUMEN
Various surgical approaches address complex heart disease with arch anomalies. Bilateral pulmonary artery banding (bPAB) is a strategy for critically ill patients with complex arch anomalies. Some reports argued the potential effect of bPAB on the growth of the left ventricular outflow tract (LVOT) during inter-stage after bPAB. This study aimed to analyze the LVOT growth for biventricular repair candidates with arch anomaly and systemic ventricular outflow tract (SVOT) for univentricular repair candidates with arch anomaly. This retrospective study analyzed 17 patients undergoing initial bPAB followed by arch repair. The Z-scores of LVOT and SVOT were compared between pre-bPAB and pre-arch repair. Patient characteristics, transthoracic echocardiogram data, and PAB circumferences were reviewed. The diameter of the minimum LVOT for biventricular repair (BVR) candidates, the pulmonary valve (neo-aortic valve, neo-AoV) and the pulmonary trunk (the neo-ascending aorta, neo-AAo) for univentricular repair (UVR) candidates, and the degree of aortic or neo-aortic insufficiency in each candidate was statistically analyzed. 17 patients were divided into the UVR candidates (group U) with 9 patients and the BVR candidates (group B) with 8 patients. In group B, the median value of the Z-score of the minimum LVOT increased from -3.2 (range: - 4.1 ~ - 1.0) at pre-PAB to -2.8 (range: - 3.6 ~ - 0.3) at pre-arch repair with a significant difference (p = 0.012). In group U, the median value of the Z-score of the neo-AoV increased from 0.5 (range: - 1.0 ~ 1.7) at pre-bPAB to 1.2 (range: 0.2 ~ 1.9) at pre-arch repair with a significant difference (p < 0.01). The median value of the Z-score of the neo-AAo was also increased from 3.1 (range: 1.5 ~ 4.6) to 4.3 (range: 3.1 ~ 5.9) with a significant difference (p = 0.028). The growth of the LVOT for BVR candidates and SVOT for UVR candidates during the inter-stage between bPAB and arch repair was observed. These results suggest the potential advantage of bPAB in surgical strategies. Further research is needed to validate these findings and refine surgical approaches.
Asunto(s)
Aorta Torácica , Procedimientos Quirúrgicos Cardíacos , Ventrículos Cardíacos , Arteria Pulmonar , Humanos , Estudios Retrospectivos , Masculino , Arteria Pulmonar/cirugía , Arteria Pulmonar/diagnóstico por imagen , Arteria Pulmonar/anomalías , Femenino , Aorta Torácica/cirugía , Aorta Torácica/diagnóstico por imagen , Aorta Torácica/anomalías , Procedimientos Quirúrgicos Cardíacos/métodos , Lactante , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/anomalías , Ventrículos Cardíacos/cirugía , Ventrículos Cardíacos/fisiopatología , Resultado del Tratamiento , Ecocardiografía , Preescolar , Cardiopatías Congénitas/cirugía , Cardiopatías Congénitas/fisiopatología , Cardiopatías Congénitas/diagnóstico , Corazón Univentricular/cirugía , Corazón Univentricular/fisiopatología , Niño , Recién NacidoRESUMEN
Congenital diverticulum is an uncommonly detected cardiac lesion, especially in infancy. However, its association with cyanotic congenital heart disease is extremely rare. In the current work, we report a case diagnosed in the neonatal period with tetralogy of Fallot and pulmonary valve atresia associated with a large congenital diverticulum originating from the right ventricle.
Asunto(s)
Divertículo , Ventrículos Cardíacos , Atresia Pulmonar , Tetralogía de Fallot , Humanos , Tetralogía de Fallot/complicaciones , Tetralogía de Fallot/diagnóstico por imagen , Atresia Pulmonar/complicaciones , Atresia Pulmonar/diagnóstico por imagen , Divertículo/complicaciones , Divertículo/diagnóstico por imagen , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/anomalías , Recién Nacido , Ecocardiografía/métodos , Masculino , Anomalías Múltiples , Femenino , Diagnóstico DiferencialRESUMEN
OBJECTIVES: Left ventricular outflow tract obstruction (LVOTO) is a major cause of morbidity and mortality in infants with interrupted aortic arch (IAA). Left Ventricular Outflow Tract (LVOT) development may be flow-mediated, thus IAA morphology may influence LVOT diameter and subsequent reintervention. We investigated the association of IAA morphology [type and presence of aortic arch aberrancy (AAb)] with LVOT diameter and reintervention. METHODS: All surgical patients with IAA (2001-2022) were reviewed at a single institution. We compared IAA-A versus IAA-B; IAA with aortic AAb versus none; IAA-B with aberrant subclavian (AAbS) artery versus others. Primary outcomes included LVOT diameter (mm), LVOTO at discharge (≥50 mmHg), and LVOT reintervention. RESULTS: Seventy-seven infants (mean age 10 ± 19 days) were followed for 7.6 (5.5-9.7) years. Perioperative mortality was 3.9% (3/77) and long-term mortality was 5.2% (4/77). Out of 51 IAA-B (66%) and 22 IAA-A (31%) patients, 30% (n = 22) had AAb. Smaller LVOT diameter was associated with IAA-B [IAA-A: 5.40 (4.68-5.80), IAA-B: 4.60 (3.92-5.50), P = 0.007], AAb [AAb: 4.00 (3.70-5.04) versus none: 5.15 (4.30-5.68), P = 0.006], and combined IAA-B + AAbS [IAA-B + AAbS: 4.00 (3.70-5.02) versus other: 5.00 (4.30-5.68), P = 0.002]. The likelihood of LVOTO was higher among AAb [N = 6 (25%) vs N = 1 (2%), P = 0.004] and IAA-B + AAbS [N = 1 (2%) vs N = 6 (30%), P = 0.002]. Time-to-event analysis showed a signal towards increased LVOT reintervention in IAA-B + AAbS (P = 0.11). CONCLUSIONS: IAA-B and AAb are associated with small LVOT diameter and early LVOTO, especially in combination. This may reflect lower flow in the proximal arch during development. Most reinterventions occur in IAA-B + AAbS, hence these patients should be carefully considered for LVOT intervention at the time of initial repair.
Asunto(s)
Aorta Torácica , Obstrucción del Flujo Ventricular Externo , Humanos , Aorta Torácica/diagnóstico por imagen , Aorta Torácica/cirugía , Aorta Torácica/anomalías , Obstrucción del Flujo Ventricular Externo/cirugía , Femenino , Recién Nacido , Masculino , Estudios Retrospectivos , Lactante , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/anomalías , Ventrículos Cardíacos/patologíaRESUMEN
This article will detail Dr. James Tweddell's operative technique and considerations for 26 all three stages of SVP in patients with HLHS. This will include the Norwood Procedure with 27 Right-Ventricle-to-Pulmonary-Artery Conduit (Sano Modification), Bidirectional Glenn 28 (Superior Cavopulmonary Connection), and Extracardiac, Fenestrated Fontan Completion (Total 29 Cavopulmonary Connection). These techniques are the culmination of over 20 years of experience 30 and represent the final techniques he employed at both Children's Hospital of Wisconsin and 31 Cincinnati Children's Hospital Medical Center.
Asunto(s)
Procedimiento de Fontan , Síndrome del Corazón Izquierdo Hipoplásico , Procedimientos de Norwood , Cuidados Paliativos , Síndrome del Corazón Izquierdo Hipoplásico/cirugía , Síndrome del Corazón Izquierdo Hipoplásico/historia , Humanos , Procedimiento de Fontan/historia , Procedimiento de Fontan/métodos , Procedimientos de Norwood/historia , Historia del Siglo XX , Resultado del Tratamiento , Historia del Siglo XXI , Ventrículos Cardíacos/cirugía , Ventrículos Cardíacos/anomalíasRESUMEN
BACKGROUND: We describe outcomes and management strategies for single-ventricle and bilaterally discontinuous pulmonary arteries (PAs) originating from bilateral ductus arteriosus. METHODS: We reviewed 22 patients with aforementioned anatomy and PA centralization from 1995 to 2023, excluding those with biventricular repair. RESULTS: Median age at centralization was 9 days (minimum-maximum, 0 days-2 years). Centralization was performed with systemic-to-pulmonary shunt (n =20 [91%]; 2 after bilateral ductal stents) or bidirectional cavopulmonary connection (n = 2 [9%]) using pericardial roll (n = 14 [64%]), patch-augmented direct anastomosis (n = 7 [32%]), and interposition graft (n = 1 [5%]) techniques. Concurrent total anomalous pulmonary venous connection (TAPVC, n = 11 [50%]) was associated with significantly inferior survival (P = .01). Five patients (23%) died at a median of 59 days (minimum-maximum, 6-257 days) after centralization, all with noncardiac TAPVC. At the latest follow-up for 17 survivors (median, 13.5 years; minimum-maximum, 0.5-25.1 years after centralization), 12 completed Fontan, 4 completed second-stage palliation, and 1 received a transplant before second-stage palliation. PA reintervention was required in 14 patients (64%), including 3 with reoperations independent of staged palliation. Echocardiography from baseline to before the second stage demonstrated branch PA growth with significantly increased diameters (left, P = .0006; right, P = .0002); z-scores significantly increased for right (P = .004) but not left (P = .11). CONCLUSIONS: Successful single-ventricle palliation is possible, although high risk, for patients with bilateral discontinuous ductal PAs. Early postcentralization mortality remains substantial, particularly with associated noncardiac TAPVC. Many require reintervention to maintain PA growth, typically concurrently with staged palliation.
Asunto(s)
Ventrículos Cardíacos , Arteria Pulmonar , Humanos , Lactante , Arteria Pulmonar/cirugía , Arteria Pulmonar/anomalías , Recién Nacido , Femenino , Masculino , Estudios Retrospectivos , Preescolar , Ventrículos Cardíacos/anomalías , Ventrículos Cardíacos/cirugía , Resultado del Tratamiento , Corazón Univentricular/cirugía , Conducto Arterial/cirugía , Conducto Arterial/diagnóstico por imagen , Cardiopatías Congénitas/cirugía , Anomalías Múltiples/cirugíaRESUMEN
A 19-year-old gravida underwent genetic counseling at the 26th week of gestation due to sonographically detected fetal anomalies, including Dandy-Walker malformation, characterized by cerebellar vermis hypoplasia and an enlarged cisterna magna, and single ventricle heart. Following amniocentesis at the 27th week, after the normal quantitative fluorescence polymerase chain reaction and chromosomal microarray results, trio clinical exome sequencing was performed, revealing a novel homozygous pathogenic variant in the MPDZ gene, c.4576G>T (NM_001378778.1). So far, homozygous and compound heterozygous variants in MPDZ have been strongly linked to congenital hydrocephalus type 2 with or without accompanying brain or eye anomalies. The reported variant, absent in control databases, resulted in premature termination of protein synthesis, consistent with pathogenicity predictions. Both parents were identified as heterozygous carriers. Pregnancy termination was chosen post-diagnosis. Postmortem findings correlated with prenatal ultrasound. Our case broadens the prenatal phenotypic spectrum associated with MPDZ variants, necessitating further studies for comprehensive understanding of molecular mechanisms beneath the clinical manifestations.
Asunto(s)
Síndrome de Dandy-Walker , Fenotipo , Ultrasonografía Prenatal , Humanos , Femenino , Síndrome de Dandy-Walker/genética , Síndrome de Dandy-Walker/diagnóstico por imagen , Síndrome de Dandy-Walker/diagnóstico , Embarazo , Adulto Joven , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/anomalías , Cardiopatías Congénitas/genética , Cardiopatías Congénitas/diagnóstico por imagen , Cardiopatías Congénitas/diagnósticoAsunto(s)
Ventrículos Cardíacos , Arteria Pulmonar , Humanos , Arteria Pulmonar/anomalías , Arteria Pulmonar/diagnóstico por imagen , Ventrículos Cardíacos/anomalías , Ventrículos Cardíacos/diagnóstico por imagen , Arteria Coronaria Izquierda Anómala/cirugía , Arteria Coronaria Izquierda Anómala/diagnóstico por imagen , Masculino , Anomalías de los Vasos Coronarios/diagnóstico por imagen , Anomalías de los Vasos Coronarios/cirugía , FemeninoRESUMEN
Uhl's anomaly is a rare congenital syndrome characterized by the absence of right ventricular myocardium. The widely accepted pathological mechanism is intrauterine myocardial apoptosis. Uhl's syndrome carries a poor prognosis. In rare situations, patients with Uhl's anomaly reach adulthood. We will present a case of a 29-year-old patient with Uhl's syndrome treated at our center, highlighting the diagnostic, surgical, and postoperative challenges in management.
Asunto(s)
Cardiopatías Congénitas , Humanos , Adulto , Cardiopatías Congénitas/cirugía , Femenino , Ventrículos Cardíacos/anomalías , Ventrículos Cardíacos/cirugía , Masculino , Procedimientos Quirúrgicos Cardíacos/métodos , Cardiomiopatía DilatadaRESUMEN
BACKGROUND: The Fontan operation is used to palliate single ventricle congenital heart defects (CHD) but poses significant morbidity and mortality risks. We present the design, planned analyses, and rationale for a long-term Fontan cohort study aiming to examine the association of patient characteristics at the time of Fontan with post-Fontan morbidity and mortality. METHODS AND RESULTS: We used the Pediatric Cardiac Care Consortium (PCCC), a US-based, multicenter registry of pediatric cardiac surgeries to identify patients who underwent the Fontan procedure for single ventricle CHD between 1 and 21 years of age. The primary outcomes are in-hospital Fontan failure (death or takedown) and post-discharge mortality through 2022. A total of 1461 (males 62.1%) patients met eligibility criteria and were included in the analytical cohort. The median age at Fontan evaluation was 3.1 years (IQR: 2.4-4.3). While 95 patients experienced in-hospital Fontan failure (78 deaths and 17 Fontan takedown), 1366 (93.5%) survived to discharge with Fontan physiology and formed the long-term analysis cohort. Over a median follow-up of 21.2 years (IQR: 18.4-24.5) 184 post-discharge deaths occurred. Thirty-year post Fontan survival was 75.0% (95% CI: 72.3%-77.8%) for all Fontan types with higher rates for current techniques such as lateral tunnel and extracardiac conduit 77.1% (95% CI: 73.5-80.8). CONCLUSION: The PCCC Fontan study aims to identify predictors for post-Fontan morbidity and mortality, enabling risk- stratification and informing surveillance practices. Additionally, the study may guide therapeutic interventions aiming to optimize hemodynamics and enhance Fontan longevity for individual patients.