Severe Dilatation Research Articles

Lateral pancreatico-jejunostomy: a case series

Chronic pancreatitis and tropical pancreatitis lead to frequent abdominal pain. To reduce this pain, lateral pancreaticojejunostomy (LPJ) is the most common surgical procedure. Despite the evidence available for the effectiveness of surgical therapy, the decision for indication, type, and timing of surgical intervention is always been debated. In this case series we make an attempt to define the possible timing of the procedure and the category of patients who might benefit from it. The 14 out of 65 patients who were evaluated from July 2018 to December 2021 were included in this study. All patients were observed with pain in the abdomen, weight loss, steatorrhea, and malabsorption while none of the patients had pancreatic head mass as per cross-sectional imaging. Fourteen patients with confirmed chronic atrophic pancreatitis with severe symptoms and dilatation of the pancreatic duct were operated upon. Three of these were considered failures since they continued to have no weight gain and either pain or malabsorption. The failures were mainly due to impaired pancreas due to chronic disease and not due to failure of the procedure. Chronic pancreatitis cases, with a short duration of illness, have a better chance of success in surgery. We conclude that one can resort to LPJ in cases that do not respond to medical therapy, continue to suffer from pain, malabsorption, and weight loss. It is a relatively safe procedure that provides good pain relief with low postoperative morbidity, further preventing exacerbations and maintaining appropriate pancreatic exocrine and endocrine functions.

Peritumoral histopathologic findings in patients with chronic viral hepatitis-associated hepatocellular carcinoma.

Data on peritumoral histopathologic findings in patients with hepatocellular carcinoma (HCC) is limited. In this retrospective study, we evaluated the peritumoral histopathologic changes in patients with chronic viral hepatitis (CVH)-associated HCC (CVH-HCC) and their prognostic value. 61 consecutive cirrhotic patients who underwent liver transplantation due to CVH-HCC were included. Histopathologic features within 1 cm distance of the tumor, and their association with clinicopathological characteristics and prognosis were evaluated. A random representative slide of cirrhotic parenchyma unrelated to invasive and/or dysplastic foci was also evaluated for the same histopathologic criteria. The majority (85%, n = 52) were male with a median age of 55 ± 6.38 (range, 39-67). The etiologic agent was only HBV in 90% (n = 55). The most common peritumoral findings were portal inflammation (100%; n = 61), ductular reaction (100%; n = 61) and sinusoidal dilatation (95%; n = 58). Macrovascular invasion was observed only in four cases (7%) with mild peritumoral portal inflammation. Neutrophilic infiltration of the peritumoral portal tracts (n = 18; 30%) was significantly associated with pT4 tumor stage, tumor grade, macrovascular invasion, and pretransplant therapy. Patients with moderate or severe peritumoral sinusoidal dilatation tended to have worse prognosis, albeit not significantly. Peritumoral ballooning degeneration was associated with multifocality, recurrence and recurrence-free survival in both uni- and multivariate analysis. Peritumoral histopathologic changes in CVH-HCC can be classified as: changes related to pathogenesis, changes indirectly affecting prognosis, and changes directly affecting prognosis. Peritumoral prominent ballooning degeneration may be a predictor of recurrence while portal neutrophilic infiltration and sinusoidal dilatation seem to indicate poor prognosis.

Artificial Intelligence-Enabled Electrocardiogram Predicted Left Ventricle Diameter as an Independent Risk Factor of Long-Term Cardiovascular Outcome in Patients With Normal Ejection Fraction.

BackgroundHeart failure (HF) is a global disease with increasing prevalence in an aging society. However, the survival rate is poor despite the patient receiving standard treatment. Early identification of patients with a high risk of HF is important but challenging. Left ventricular end-diastolic diameter (LV-D) increase was an independent risk factor of HF and adverse cardiovascular (CV) outcomes. In this study, we aimed to develop an artificial intelligence (AI) enabled electrocardiogram (ECG) system to detect LV-D increase early.ObjectiveWe developed a deep learning model (DLM) to predict left ventricular end-diastolic and end-systolic diameter (LV-D and LV-S) with internal and external validations and investigated the relationship between ECG-LV-D and echocardiographic LV-D and explored the contributions of ECG-LV-D on future CV outcomes.MethodsElectrocardiograms and corresponding echocardiography data within 7 days were collected and paired for DLM training with 99,692 ECGs in the development set and 20,197 ECGs in the tuning set. The other 7,551 and 11,644 ECGs were collected from two different hospitals to validate the DLM performance in internal and external validation sets. We analyzed the association and prediction ability of ECG-LVD for CV outcomes, including left ventricular (LV) dysfunction, CV mortality, acute myocardial infarction (AMI), and coronary artery disease (CAD).ResultsThe mean absolute errors (MAE) of ECG-LV-D were 5.25/5.29, and the area under the receiver operating characteristic (ROC) curves (AUCs) were 0.8297/0.8072 and 0.9295/0.9148 for the detection of mild (56 ≦ LV-D < 65 mm) and severe (LV-D ≧ 65 mm) LV-D dilation in internal/external validation sets, respectively. Patients with normal ejection fraction (EF) who were identified as high ECHO-LV-D had the higher hazard ratios (HRs) of developing new onset LV dysfunction [HR: 2.34, 95% conference interval (CI): 1.78–3.08], CV mortality (HR 2.30, 95% CI 1.05–5.05), new-onset AMI (HR 2.12, 95% CI 1.36–3.29), and CAD (HR 1.59, 95% CI 1.26–2.00) in the internal validation set. In addition, the ECG-LV-D presents a 1.88-fold risk (95% CI 1.47–2.39) on new-onset LV dysfunction in the external validation set.ConclusionThe ECG-LV-D not only identifies high-risk patients with normal EF but also serves as an independent risk factor of long-term CV outcomes.

Bidirectional Glenn shunt with tricuspid valve resection in patients with infective endocarditis.

Bidirectional Glenn shunt with tricuspid valve resection in patients with infective endocarditis.

Atrial Fibrillation Ablation Usually Improves Ejection Fraction In Otherwise Unexplained Cardiomyopathy

Introduction The prevalence of cardiomyopathy (CM) attributable to atrial fibrillation (AF) is uncertain among patients undergoing AF ablation without other known cause of CM. Objective: To (1) determine how often patients improved from left ventricular ejection fraction (LVEF) < 50% by at least 10 percentage points with ablation (AF-CM) and (2) compare AF-CM profiles to patients with AF and no history of LVEF < 50% (No AF-CM). Methods Patients with early-onset AF (age of onset < 65 without known structural or toxin-associated heart disease) were identified from a prospective AF ablation registry with LVEF measured before and after ablation. CM was defined as pre-ablation LVEF < 50% and AF-CM as CM that improved by at least 10 percentage points post-ablation to ≥ 50%. Results Of 302 patients (age 55 ± 10 years at first AF ablation), CM was present pre-ablation in 57 (19%) patients, of whom 51 (89%) met the definition of AF-CM, with mean LVEF improving from 38 ± 10% pre-ablation to 60 ± 6% post-ablation (Figure). Of 245 with normal LVEF pre-ablation, 6 developed CM after ablation. AF-CM patients were more likely than No AF-CM to be male, have persistent or permanent AF, and have shorter duration of known AF pre-ablation (4.9 ± 0.6 vs. 6.7 ± 0.7 years, p < 0.01). Pre-ablation heart rate was adequately controlled in both groups but higher in AF-CM (83 ± 26 vs. 70 ± 20 beats per minute, p < 0.01). LV end diastolic dimension was higher in AF-CM (5.2 ± 0.7 vs. 4.8 ± 0.6 cm, p < 0.01) but without severe dilation. Conclusion Patients with early-onset AF referred for ablation and otherwise unexplained CM are likely to improve to EF ≥ 50% after ablation. AF ablation should be considered to treat heart failure in these patients, regardless of symptom burden. The prevalence of cardiomyopathy (CM) attributable to atrial fibrillation (AF) is uncertain among patients undergoing AF ablation without other known cause of CM. Objective: To (1) determine how often patients improved from left ventricular ejection fraction (LVEF) < 50% by at least 10 percentage points with ablation (AF-CM) and (2) compare AF-CM profiles to patients with AF and no history of LVEF < 50% (No AF-CM). Patients with early-onset AF (age of onset < 65 without known structural or toxin-associated heart disease) were identified from a prospective AF ablation registry with LVEF measured before and after ablation. CM was defined as pre-ablation LVEF < 50% and AF-CM as CM that improved by at least 10 percentage points post-ablation to ≥ 50%. Of 302 patients (age 55 ± 10 years at first AF ablation), CM was present pre-ablation in 57 (19%) patients, of whom 51 (89%) met the definition of AF-CM, with mean LVEF improving from 38 ± 10% pre-ablation to 60 ± 6% post-ablation (Figure). Of 245 with normal LVEF pre-ablation, 6 developed CM after ablation. AF-CM patients were more likely than No AF-CM to be male, have persistent or permanent AF, and have shorter duration of known AF pre-ablation (4.9 ± 0.6 vs. 6.7 ± 0.7 years, p < 0.01). Pre-ablation heart rate was adequately controlled in both groups but higher in AF-CM (83 ± 26 vs. 70 ± 20 beats per minute, p < 0.01). LV end diastolic dimension was higher in AF-CM (5.2 ± 0.7 vs. 4.8 ± 0.6 cm, p < 0.01) but without severe dilation. Patients with early-onset AF referred for ablation and otherwise unexplained CM are likely to improve to EF ≥ 50% after ablation. AF ablation should be considered to treat heart failure in these patients, regardless of symptom burden.

Clinical, functional and prognostic implications of severe atrial dilation in secondary mitral regurgitation

ObjectiveAtrial dilation is known to be a poor prognostic indicator. However, its clinical, functional and prognostic implications have not been thoroughly explored in secondary mitral regurgitation (SMR). We sought to...

Pulmonary hypertensive crisis in children with pulmonary arterial hypertension undergoing cardiac catheterization.

Pediatric patients with pulmonary arterial hypertension (PAH) are considered to be at risk for pulmonary hypertensive crisis (PHC) or even death during right heart catheterization (RHC). This retrospective study was designed to identify the risks and clinical characteristics associated with PHC in pediatric PAH patients. We included 163 consecutive procedures from 147 pediatric patients diagnosed with PAH who underwent diagnostic RHC in Beijing Anzhen Hospital between January 2007 and December 2020. The average patient age was 9.0 ± 4.7 years and 84 (51.5%) were females. Before RHC, over 20% of patients were in New York Heart Association (NYHA) class III–IV. Sedation or general intravenous anesthesia was used in 103 procedures (63.2%), with spontaneous breathing in 93.2%. PHC occurred in 19 patients (11.7%), 5 (3.1%) required cardiac compression, and 1 died (0.6%). Compared to patients without PHC, those who experienced PHC were more likely to be in NYHA class III–IV (p = 0.012) before RHC, require sedation (p = 0.011), had echocardiographic indices of higher peak tricuspid regurgitation velocity (p = 0.018), and right ventricle (RV) to left ventricle (LV) ratio (p < 0.001). Multivariate logistic regression for PHC identified the need for sedation and a higher RV/LV ratio as independent predictors. In conclusion, the risk of RHC remains significant in children with PAH, particularly in those with severe RV dilation who require sedation during cardiac catheterization. Comprehensive evaluation, close monitoring, and appropriate treatment before and during the procedure are essential for reducing mortality.

Heart Transplantation Strategies In Arrhythmogenic Right Ventricular Cardiomyopathy: The Johns Hopkins Experience

<h3>Background</h3> End stage heart failure necessitating evaluation for heart transplantation is increasingly recognized in arrhythmogenic right ventricular cardiomyopathy (ARVC). These patients present unique challenges in pre- and peri-transplant management given predominantly right ventricle (RV) failure and propensity for ventricular arrhythmias. We utilized a tertiary ARVC referral and heart transplant center experience to describe management of patients with ARVC undergoing heart transplantation. <h3>Methods</h3> We queried the Johns Hopkins ARVC Registry for all patients who underwent heart transplantation and studied the subset undergoing transplantation at Johns Hopkins. Patient demographics, clinical characteristics, and pre-transplant clinical course were obtained from the registry and medical records. <h3>Results</h3> Of the 532 patients in the ARVC Registry, 63 underwent heart transplantation. Nine (3 female) patients had known ARVC prior to transplant and were transplanted at Johns Hopkins Hospital from 2006 to 2020; 5 occurred after the 2018 allocation system revision. Plakophilin-2 (<i>PKP2</i>) pathogenic or likely pathogenic variant was present in 6 (67%) patients; the others were gene elusive. Six patients had a history of catheter ablation for ventricular arrhythmia (5 had at least 3 ablations). All 9 patients had significant right ventricular failure as demonstrated in <b>Figure</b>. Transplant evaluation occurred at a mean age of 42±14 years and was typically initiated within 1 year of developing heart failure. Initial waitlist status was 2 (old system) or 6 (revised system) in 7 (78%) patients; 1 patient underwent transplant at this status, the remaining required upgraded status because of clinical worsening. Bridge to transplant support included inotropes (n=3) and ECMO (n=2). Percutaneous RV mechanical support was unsuccessful in 2 patients due to severe RV dilation. Contraindication to inotropes or left ventricle mechanical support was common due to ventricular arrhythmia and RV predominant cardiomyopathy. <h3>Conclusion</h3> Heart transplantation is a curative treatment for ARVC, but due to frequent ventricular arrhythmia and RV predominant pathology, patients require unique considerations in regards to timing of evaluation, hemodynamic support options and wait listing qualification.

Meeting abstracts from the 15th international conference on neonatal and childhood pulmonary vascular disease

Meeting abstracts from the 15th international conference on neonatal and childhood pulmonary vascular disease

Repair of Mitral Valves with Severe Annular Dilatation and Abundant Leaflet Tissue Using a Prosthetic Ring with a Large Anterior-Posterior Diameter.

Backround: Mitral valve (MV) repair in the case of a large anterior-posterior diameter and redundant valve tissue remains challenging and favors repair with a ring that exhibits a large anterior-posterior diameter. Compared to other available rings, the Medtronic Simulus annuloplasty ring shows the largest anterior-posterior diameter. This study reports for the first time mid-term results using this annuloplasty ring. Methods: Between 11/2015 and 12/2019, a total of 378 patients underwent MV repair for degenerative mitral regurgitation using the Medtronic Simulus ring, according to the following selection criteria: large MV annuli, abundant leaflet tissue (i.e., Barlow disease), and risk for SAM. Results: Overall survival after 5 years was 90.8 ± 4.6%. Five patients required valve-related reoperations because of ring dehiscence (n = 1), progression of native valve disease (n = 2), dehiscence of quadrangular resection suture (n = 1), and endocarditis (n = 1). The cumulative incidence of valve-related reoperation at 5 years was 1.3 ± 0.5%. At latest follow-up, echocardiography demonstrated excellent valve function with no/mild MR in 299 patients (94.6%). Two patients (0.6%) had more than moderate MR. No patient developed SAM after repair. Conclusion: Repair of MV with large annuli and abundant leaflet tissue with the Medtronic Simulus annuloplasty ring shows excellent mid-term results regarding reoperation rates and recurrent MR.

Radiologic and clinical outcome of isolated fourth ventricle following post-hemorrhagic hydrocephalus in children.

Few studies report radiologic and clinical outcome of post-hemorrhagic isolated fourth ventricle (IFV) with focus on surgical versus conservative management in neonates and children. Our aim is to investigate differences in radiological and clinical findings of IFV between patients who had surgical intervention versus patients who were treated conservatively. A retrospective analysis of patients diagnosed with IFV was performed. Data included demographics, clinical exam findings, surgical history, and imaging findings (dilated FV extent, supratentorial ventricle dilation, brainstem and cerebellar deformity, tectal plate elevation, basal cistern and cerebellar hemisphere effacement, posterior fossa upward/downward herniation). Sixty-four (30 females) patients were included. Prematurity was 94% with 90% being < 28weeks of gestation. Mean age at first ventricular shunt was 3.6 (range 1-19); at diagnosis of IFV, post-lateral ventricular shunting was 26.2 (1-173) months. Conservatively treated patients were 87.5% versus 12.5% treated with FV shunt/endoscopic fenestration. Severe FV dilation (41%), severe deformity of brainstem (39%) and cerebellum (47%) were noted at initial diagnosis and stable findings (34%, 47%, and 52%, respectively) were seen at last follow-up imaging. FV dilation (p = 0.0001) and upward herniation (p = 0.01) showed significant differences between surgery versus conservative management. No other radiologic or clinical outcome parameters were different between two groups. Only radiologic outcome results showed stable or normal FV dilation and stable or decreased upward herniation in the surgically treated group.

Spontaneous Echo Contrast in an Asymptomatic McDowell's Carpet Python (Morelia spilota mcdowelli) with Suspected Restrictive Cardiomyopathy

A nine-year-old female McDowell's carpet python (Morelia spilota mcdowelli) presented with an eight-month history of anorexia. A rostral subcutaneous abscess was diagnosed by cytology and surgical excision was elected. During ultrasound-guided cardiocentesis for pre-anaesthetic blood work, severe right atrial dilation and hypokinesis, thickened and irregular atrio-ventricular valves, ventricular myocardial hyperechoic foci and subjective ventricular hypokinesis were observed. Spontaneous echo contrast (SEC) was observed inside the right atrial cavity. Echocardiographic lesions were consistent with restrictive cardiomyopathy previously described in a case report involving the same subspecies, with additional concurrent thrombus formation. SEC has not been previously described in reptiles, and the presence of simultaneous SEC and restrictive cardiomyopathy suggests that it might be predictive of thrombus formation, as is the case in mammals. Following surgical excision of the rostral abscess, anorexia resolved, suggesting asymptomatic cardiopathy despite severe cardiac lesions. Further studies are needed to confirm the prevalence of cardiac diseases in reptiles and whether severe cardiac disease can be asymptomatic in captive snakes. Routine echocardiography in asymptomatic snakes with non-specific signs is encouraged.

Case Report: Aortic Regurgitation of Postocclusion and Long-Term Outcome Following PDA Correction in an Adult Dog

A 9-year-old intact female Maltese dog was admitted for further evaluation of previously diagnosed patent ductus arteriosus (PDA). The dog showed severe coughing and exercise intolerance. On physical examination, a grade VI/VI continuous heart murmur was auscultated. Thoracic radiography demonstrated cardiomegaly, pulmonary overcirculation, and moderate bronchointerstitial pattern. Echocardiography revealed severe dilation of the left ventricle and atrium, decreased left ventricular contractility, and left-to-right PDA. On electrocardiography (ECG), R amplitude was increased. Computed tomographic angiography revealed type IIA PDA. The serum N-terminal pro-B-type natriuretic peptide (NT-proBNP) concentration was >10,000 pmol/L. Transarterial occlusion was performed and the Amplatz® Canine Duct Occluder was successfully deployed. On echocardiography 48 h after the procedure, aortic regurgitation (AR) and residual ductal flow were noted. Long-term follow-up on clinical signs, physical examination, radiography, echocardiography, ECG, and serum NT-proBNP were evaluated until 30 months after correction of PDA. The clinical indices of physical examination, thoracic radiography, echocardiography, ECG, and serum NT-proBNP concentration were improved, although the postocclusion AR and residual ductal flow persisted. The dog followed up without clinical signs for 41 months following the correction. To our knowledge, this is the first case report to demonstrate quite a long time of follow-up (41 months) in an older dog with transarterial occlusion of PDA with postocclusion AR and residual flow.

EP459: Rare clinical gene variant of SOX9: Acampomelic campomelic dysplasia

eP459: Rare clinical gene variant of SOX9: Acampomelic campomelic dysplasia

Diagnosis and treatment of congenital hydrocephalus in a red fox (Vulpes vulpes) with seizures

AbstractA 2‐year‐old male red fox (Vulpes vulpes) was presented for generalised tonic‐clonic seizures, blindness, compulsive circling and behavioural changes that occurred since the animal was 2 months old. Neurological examination indicated a diffuse forebrain lesion. On magnetic resonance imaging of the brain, a severe dilation of both lateral ventricles was identified. Congenital hydrocephalus was suspected and the fox was treated with methylprednisolone, omeprazole and phenobarbital. Sixteen months later, the neurological signs had improved: the frequency of seizures had decreased to one seizure every 3 months and compulsive circling was less pronounced.

COVID-19-Associated Multisystem Inflammatory Syndrome in a Neonate with Atypical Coronary Artery Involvement.

The study aimed to report a novel coronavirus disease 2019 (COVID-19)-associated multisystem inflammatory syndrome in children (MIS-C) in a neonate found to have an atypical diffuse thickening in coronary artery walls whose diagnosis required a multi-imaging approach. A neonate presented at birth with multiple organ involvement and coronary artery anomalies. A diagnosis of MIS-C associated with COVID-19 was supported by maternal severe acute respiratory syndrome-coronavirus-2 (SARS-CoV-2) infection during pregnancy, and by the presence of both immunoglobulin (Ig)-G against SARS-CoV-2 and spike-specific memory B-cells response in the neonatal blood. Other plausible causes of the multiple organ involvement were excluded. At admission, a severe coronary artery dilatation was identified on echocardiography, supporting the diagnosis of the MIS-C Kawasaki-like disease; however, coronary artery internal diameters were found to be normal using cardiac computed tomography angiography. At discharge, comparing the two imaging techniques each other, the correct diagnosis resulted to be an abnormal thickening in coronary arterial walls. These findings suggest that the inflammatory process affecting the coronary arterial wall in MIS-C could result not only in typical coronary artery lesions such as dilatation of the lumen or aneurysms development but also in abnormal thickening of the coronary artery wall. Our case provides an alert for pediatric cardiologists about the complexity to assess coronary artery involvement in MIS-C and raises the question that whether an abnormal vascular remodeling, with normal inner diameters, is to be considered like coronary artery dilatation for risk stratification. · COVID-19 associated MIS-C can present in neonates with multiple organ involvement.. · Coronary artery assessment in neonatal MIS-C could be complex, and a multi-imaging approach could be required.. · Beside the typical coronary artery lesions, such as dilatation of the lumen or aneurysms, also abnormal thickening of the coronary artery wall can occur..

Concomitant pulmonary and neurological embolisation in a Down patient after SARS-CoV-2 vaccine: what is missing?

A 40-year-old Down patient without previous cardiological history was admitted to our institution for dyspnoea after COVID-19 vaccine. CT scan revealed a pulmonary thromboembolism. One week later, he developed neurological impairment and CT scan evidenced a left parietal ischaemic lesion. Concomitantly, he underwent echocardiography showing an atrioventricular septal defect typically associated to Down syndrome and never diagnosed earlier. The diagnosis of paradoxical embolisation was then supposed. Echocardiography also revealed a severe right heart section dilatation, with bidirectional shunt on the septal defects and systemic right heart pressure. Down patients affected by CHD are more prone to develop pulmonary vasculopathy than non-syndromic patients. In this case, the pulmonary vasculopathy was further exacerbated by the pulmonary embolism and by the late diagnosis of CHD. Finally, an appropriate timely diagnosis of atrioventricular septal defect could potentially avoid the neurological complication in this patient.

Predictors of optimal procedural result after transcatheter edge-to-edge mitral valve repair in secondary mitral regurgitation.

Procedural success after transcatheter edge-to-edge mitral valve repair (TEER) is defined as a reduction of mitral regurgitation (MR) degree to <moderate (2+). However, post-procedural MR 0/1+ was found to be associated with a better outcome and a lower rate of MR recurrence compared to post-procedural MR 2+. To evaluate predictors and prognostic impact of optimal procedural result (MR 0/1+) after TEER. The Italian Society of Interventional Cardiology (GIse) Registry of Transcatheter Treatment of Mitral Valve RegurgitaTiOn (GIOTTO) is a large multicenter registry including patients undergoing TEER in 19 Italian centers between January 2016 and March 2020. For the purpose of this analysis, only patients with secondary MR and successful TEER were included. Among 950 patients enrolled, 637 (67%) had an optimal procedural result (MR 0/1+) and 313 (33%) had an acceptable procedural result (MR 2+) after TEER. Moderate-to-severe, rather than severe, MR, left ventricular end-systolic diameter <70 mm at baseline, and treatment in centers performing ≥20 procedures/year were independent predictors of the optimal procedural result. Compared to patients with acceptable procedural result, those with optimal result had shorter device time and length of stay and better outcomes with lower rates of all-cause and cardiac deaths (25.7% vs. 40%, p < 0.001 and 16.3% vs. 24.8%, p = 0.003, respectively) and HF hospitalizations (24% vs. 30%; p = 0.035) at 2-year follow-up. In patients with secondary MR undergoing TEER, an optimal procedural result is associated with favorable outcomes and can be achieved by selecting patients with moderate-to-severe MR, without severe left ventricular dilatation, and treated in high-volume centers. mitral regurgitation, mitral valve repair, chronic heart failure.

Biventricular non-compaction cardiomyopathy and tricuspid hypoplasia in a novel non-POU domain-containing octamer-binding gene variant.

A maternally inherited novel pathogenic non-POU domain-containing octamer-binding gene variant c.767G>T, p.R256I [NM_001145408], manifested in a male infant as dilated cardiomyopathy with severe left ventricular dysfunction and dilation, biventricular non-compaction, tricuspid hypoplasia, and hydrocephaly. To the best of our knowledge, no previous non-POU domain-containing octamer-binding gene variants with biventricular non-compaction have been associated with tricuspid valve hypoplasia. Hence, this case introduces a new pathogenic variant observed in the non-POU domain-containing octamer-binding gene and adds to the range of cardiac phenotypes identified in non-POU domain-containing octamer-binding gene variants.

Prognostic Impact of Extra–Mitral Valve Cardiac Involvement in Patients With Primary Mitral Regurgitation

BackgroundIn patients with severe primary mitral regurgitation (MR), the indication for surgery is currently based on the presence of symptoms, left ventricular dilatation and dysfunction, atrial fibrillation, and pulmonary hypertension. ObjectivesThe aim of this study was to evaluate the prognostic impact of the presence of extra–mitral valve cardiac involvement (including known risk factors but also severe left atrial [LA] dilatation and right ventricular [RV] dysfunction) in a large multicenter study of patients with primary MR. MethodsPatients with severe primary MR undergoing surgery were included and categorized according to the extent (highest) of cardiac involvement: group 0, no cardiac involvement; group 1, left ventricular involvement; group 2, LA involvement; group 3, pulmonary vasculature or tricuspid valve involvement; or group 4, RV involvement. The outcome was all-cause mortality. ResultsA total of 1,106 patients were included (mean age 63 ± 12 years, 68% male). In total, 377 patients (34%) were classified in group 0, 239 (22%) in group 1, 213 (19%) in group 2, 180 (16%) in group 3, and 97 (9%) in group 4. Kaplan-Meier curve analysis revealed significantly worse survival (log-rank chi-square = 43.4; P < 0.001) with higher group. On multivariable analysis, age, male sex, chronic obstructive pulmonary disease, kidney function, and group of cardiac involvement were independently associated with all-cause mortality. For each increase in group, a 17% higher risk for all-cause mortality was observed (95% CI: 1.051-1.313; P = 0.005) during a median follow-up time of 88 months. ConclusionsIn patients with severe primary MR, a novel classification system based on extra–mitral valve cardiac involvement may help refine risk stratification and timing of surgery, particularly including severe LA dilatation and RV dysfunction in the assessment.