Project description:Uhl's anomaly is a rare congenital heart disease characterized by partial or complete absence of the right ventricle myocardium. We report the first case, in a 21-year-old man, of Uhl's anomaly-associated left ventricular noncompaction. This association represents a unique clinical entity and has important implications for management strategies. (Level of Difficulty: Intermediate.).

| S-EPMC8446256 | biostudies-literature

QRS alternans due to localized intraventricular block during ventricular tachycardia in Uhl's anomaly: a case report.

Project description:BackgroundUhl's anomaly is a rare congenital heart disease characterized by 'Paper-like thinning of the right ventricular (RV) wall'. Since most patients with Uhl's anomaly die in infancy or childhood, the adult cases of this disorder have been limitedly reported and there were no past report describing this anomaly with ventricular tachycardia (VT), in which catheter ablation was successfully performed.Case summaryWe report the case of a 43-year-old man with a suggested Uhl's anomaly and VT. He underwent a catheter ablation of the recurrent VT. An electrophysiological study showed the VT (cycle length = 460 ms) with a right bundle branch block pattern and inferior axis represented QRS alternans. Concealed entrainment by pacing from the anterior right ventricle (RV) suggested the mechanism of this VT was re-entry and the QRS alternans was simultaneously reproduced during the pacing. Furthermore, the intracardiac electrograms exhibiting local conduction blocks were documented on the RV free wall near the apex. The electrograms seen in a 2:1 ratio were coincident with slurs in the initial QRS on the 12-lead electrocardiogram. Since the anterior RV wall was considered to be a part of the VT circuit, a linear ablation in that area was performed resulting in VT termination.DiscussionThe local conduction blocks near the RV apex were related to the mechanism of the QRS alternans during the VT in this case. That might be based on the variations in the myocardium lying in the RV, which is the specific feature of Uhl's anomaly.

| S-EPMC6439377 | biostudies-literature

MicroRNA-29b/c-3p Indicate Advanced Liver Fibrosis/Cirrhosis in Univentricular Heart Patients With and Without Fontan Palliation.

Project description:Aim: The present study aims to identify those microRNAs (miRNAs) in patients with univentricular heart (UVH) disease with and without Fontan palliation that may be associated with advanced liver fibrosis/cirrhosis. Materials and Methods: SurePrint™ 8 × 60K Human v21 miRNA arrays were used to determine the miRNA abundance profiles in the blood of 48 UVH patients with and without Fontan palliation and 32 matched healthy controls. The abundance levels of selected miRNAs have been validated by quantitative reverse transcription-polymerase chain reaction (RT-qPCR). Results: According to microarray analysis, 50 miRNAs were found to be significantly abundant in UVH patients of which miR-29b-3p and miR-29c-3p were significantly related to the model of end-stage liver disease (MELD)-Albumin and albumin-bilirubin (ALBI) score representing advanced liver fibrosis/cirrhosis. Relative expression levels of both miRNAs were significantly higher in patients with a higher collapsibility index representing venous hepatic congestion, a higher MELD-Albumin or ALBI score and incomplete or no Fontan palliation. In the logistic regression analysis, a MELD-Albumin score ≥ 11 or ALBI score > -2.6 were best predicted by total bilirubin (OR 6.630, P = 0.016), albumin (OR 0.424, P = 0.026), and miR-29c-3p (OR 33.060, P = 0.047). After adjustment to the status of Fontan palliation, however, no statistical significance of these parameters was found thus underlining the importance of palliation status on progression of liver fibrosis/ cirrhosis in UVH patients. Conclusions: In UVH patients with and without Fontan palliation, miR-29b-3p and miR-29c-3p seem to be markers of advanced liver fibrosis/cirrhosis and thus may be used in the risk assessment of these patients.

| S-EPMC7820747 | biostudies-literature

Percutaneous closure of veno-venous collaterals in adult patients with univentricular physiology after Fontan palliation: Single centre experience and systematic review.

Project description:BackgroundThe Fontan operation resulted in improved survival of patients with congenital heart defects not equipped to sustain biventricular circulation. Long-term complications are common, such as veno-venous collaterals (VVC). The aim of this study was to evaluate patient characteristics, percutaneous treatment strategy and (short-term) outcomes in adult Fontan patients with VVC, and review literature to date.MethodsIn this single-centre retrospective observational cohort study, patients who underwent percutaneous VVC closure between 2017 and 2023 were identified.ResultsThirteen patients underwent percutaneous VVC closure (77 % female, age at intervention 24 ± 4 years, 77 % systemic left ventricle, 77 % extracardiac tunnel, median conduit size 16 [16-20]mm). Indications for closure were symptoms and/or significant exercise-related hypoxia. Mean Fontan pressure was 10±4 mmHg. The VVC originated from tributaries of the vena cava superior (VCS) and connected to pulmonary veins (8 VVC, 32 %), VCS to systemic atrium (3 VVC, 12 %), VCS to coronary sinus (3 VVC, 12 %) and tributaries of vena cava inferior to pulmonary veins (11 VVC, 44 %). Twenty-three VVC were occluded using coils and/or plugs. No periprocedural complications occurred. At first follow-up at least 6 months after closure (n = 11), 9 patients (82 %) reported symptom reduction. Saturation at rest and peak exercise increased significantly (96 ± 3 to 98 ± 1 %, p = 0.040; 89 ± 3 to 93 ± 5 %, p = 0.024, respectively). Exercise capacity remained unchanged.ConclusionsVVC typically connect the tributaries of the vena cava inferior and/or superior with the pulmonary veins. Low Fontan pressures do not exclude the presence of VVC. Percutaneous closure of VVC is technically feasible, safe, and associated with symptom reduction and a significant rise in resting and exercise oxygen saturation.

| S-EPMC11657254 | biostudies-literature

Thoracic lymphatic anomalies in patients with univentricular hearts: correlation of morphologic findings in isotropic T2-weighted MRI with the outcome after fontan palliation.

Project description:ObjectivesIn this study we examined the correlation between the extent of thoracic lymphatic anomalies in patients after surgical palliation by total cavopulmonary connection (TCPC) and their outcome in terms of clinical and laboratory parameters.Materials and methodsWe prospectively examined 33 patients after TCPC with an isotropic heavily T2-weighted MRI sequence on a 3.0 T scanner. Examinations were performed after a solid meal, slice thickness of 0.6 mm, TR of 2400 ms, TE of 692 ms, FoV of 460 mm, covering thoracic and abdominal regions. Findings of the lymphatic system were correlated with clinical and laboratory parameters obtained at the annual routine check-up.ResultsEight patients (group 1) showed type 4 lymphatic abnormalities. Twentyfive patients (group 2) presented less severe anomalies (type 1-3). In the treadmill CPET, group 2 reached step 7.0;6.0/8.0 vs. 6.0;3.5/6.8 in group 1 (p = 0.006*) and a distance of 775;638/854 m vs. 513;315/661 m (p = 0.006*). In the laboratory examinations, group 2 showed significantly lower levels of AST, ALT and stool calprotectin as compared to group 1. There were no significant differences in NT-pro-BNP, total protein, IgG, lymphocytes or platelets, but trends. A history of ascites showed 5/8 patients in group 1 vs. 4/25 patients in group 2 (p = 0.02*), PLE occurred in 4/8 patient in group 1 vs. 1/25 patients in group 2 (p = 0.008*).ConclusionIn the long-term follow-up after TCPC, patients with severe thoracic and cervical lymphatic abnormalities showed restrictions in exercise capacity, higher liver enzymes and an increased rate of symptoms of imminent Fontan-failure such as ascites and PLE.

| S-EPMC10203211 | biostudies-literature

A rare case with Uhl's anomaly whose hemodynamics largely dependent on right atrial hyper-contraction and a patent foramen ovale - A "double-edged sword" of ventricularized right atrium.

Project description:We report the case of a 31-year-old man with Uhl's anomaly. Echocardiography revealed severely enlarged nonfunctioning right ventricle and unusual findings of the premature opening of the pulmonary valve along with substantial forward flow during late-diastole, indicating that pulmonary circulation was largely dependent on compensatory right atrial contraction. Moreover, right-to-left shunt through the patent foramen ovale (PFO) achieved systemic circulation at the expense of severe hypoxia. During accelerated idioventricular rhythm (AIVR) accompanied by ventriculo-atrial (VA) conduction, hypoxemia deteriorated further because of an increased right-to-left shunt through the PFO. We report the case of an adult with Uhl's anomaly whose hemodynamics was largely dependent on the ventricularized right atrium and PFO. Although the unique hemodynamics contributed to his survival into adulthood, detrimental aspects manifested themselves during AIVR with VA conduction like a "double-edged sword." <Learning objective: Uhl's anomaly is a rare congenital heart disease, characterized by the absence of right ventricular myocardium. Thus, once diagnosed with Uhl's anomaly in childhood, patients rarely survive to attain adulthood owing to progressive right ventricular deterioration. Although this patient could survive into adulthood by virtue of the "ventricularized right atrium" and the presence of a patent foramen ovale, these unique hemodynamics could be a "double-edged sword" during repeated accelerated idioventricular rhythm with ventriculo-atrial conduction.>.

| S-EPMC7718537 | biostudies-literature

Tourette syndrome and klippel-feil anomaly in a child with chromosome 22q11 duplication.

Project description:This is the first case description of the association of Klippel-Feil Syndrome (KFS), Tourette Syndrome (TS), Motor Stereotypies, and Obsessive Compulsive Behavior, with chromosome 22q11.2 Duplication Syndrome (22q11DupS). Neuropsychiatric symptoms in persons with 22q11.2 deletion, including obsessive compulsiveness, anxiety, hyperactivity, and one prior case report of TS, have been attributed to low copy number effects on Catechol-O-Methyltransferase (COMT). However, the present unique case of 22q11DupS and TS suggests a more complex relationship, either for low- or high-COMT activity, or for other genes at this locus.

| S-EPMC2797364 | biostudies-literature

Systemic thrombolysis for a mechanical atrioventricular valve thrombosis in a child with a single-ventricle palliation at Fontan stage.

Project description: Not available

| S-EPMC11518958 | biostudies-literature