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Long term CMR follow up of patients with right ventricular abnormality and clinically suspected arrhythmogenic right ventricular cardiomyopathy (ARVC).

J Cardiovasc Magn Reson. 2019 12 12;21(1):76

Authors: Femia G, Semsarian C, McGuire M, Sy RW, Puranik R

BACKGROUND: The Task Force Criteria (TFC) for arrhythmogenic right ventricular cardiomyopathy (ARVC) was updated in 2010 to improve specificity. There was concern however that the revised cardiovascular magnetic resonance (CMR) criteria was too restrictive and not sensitive enough to detect early forms of the condition. We previously described patients with clinically suspected ARVC who satisfied criteria from non-imaging TFC categories and fulfilled parameters from the original but not the revised CMR criteria; as a result, these patients were not confirmed as definite ARVC but may represent an early phenotype.
METHODS: Patients scanned between 2008 and 2015 who had either right ventricular (RV) dilatation or regional dyskinesia satisfying at least minor imaging parameters from the original criteria and without contra-indication underwent serial CMR scanning using a 1.5 T scanner. The aims were to assess the risk of progressive RV abnormalities, evaluate the accuracy of the revised CMR criteria and the need for guideline directed CMR surveillance in at-risk individuals.
RESULTS: Overall, 48 patients were re-scanned; 24 had a first-degree relative diagnosed with ARVC using the revised TFC or a first-degree relative with premature sudden death from suspected ARVC and 24 patients had either left bundle branch morphology ventricular tachycardia or > 500 ventricular extra-systoles in 24-h. Mean follow up was 69+/- 25 months. The indexed RV end-diastolic, end-systolic volumes and ejection fraction were calculated for both scans. There was significant reduction in RV volumes and improvement in RV ejection fraction (EF) irrespective of changes to body surface area; - 11.7+/- 15.2 mls/m2, - 6.4+/- 10.5 mls/m2 and + 3.3 +/- 7.9% (p = 0.01, 0.01 and 0.04). Applying the RV parameters to the revised CMR criteria, two patients from the family history group (one with confirmed ARVC and one with a premature death) had progressive RV abnormalities satisfying major criteria. The remaining patients (n = 46) did not satisfy the criteria and either had normal RV parameters with regression of structural abnormalities (27,56.3%) or stable abnormalities (19,43.7%).
CONCLUSION: The revised CMR criteria represents a robust tool in the evaluation of patients with clinical suspicion of ARVC, especially for those with ventricular arrhythmias without a family history for ARVC. For patients with RV abnormalities that do not fulfill the revised criteria but have a family history of ARVC or an ARVC associated gene mutation, a surveillance CMR scan should be considered as part of the clinical follow up protocol.

PMID: 31831077 [PubMed - indexed for MEDLINE]

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Changes in left and right ventricular longitudinal function after pulmonary valve replacement in patients with Tetralogy of Fallot.

Am J Physiol Heart Circ Physiol. 2020 02 01;318(2):H345-H353

Authors: Sjöberg P, Ostenfeld E, Hedström E, Arheden H, Gustafsson R, Nozohoor S, Carlsson M

Timing and indication for pulmonary valve replacement (PVR) in patients with repaired Tetralogy of Fallot (rToF) and pulmonary regurgitation (PR) are uncertain. To improve understanding of pumping mechanics, we investigated atrioventricular coupling before and after surgical PVR. Cardiovascular magnetic resonance was performed in patients (n = 12) with rToF and PR > 35% before and after PVR and in healthy controls (n = 15). Atrioventricular plane displacement (AVPD), global longitudinal peak systolic strain (GLS), atrial and ventricular volumes, and caval blood flows were analyzed. Right ventricular (RV) AVPD and RV free wall GLS were lower in patients before PVR compared with controls (P < 0.0001; P < 0.01) and decreased after PVR (P < 0.0001 for both). Left ventricular AVPD was lower in patients before PVR compared with controls (P < 0.05) and decreased after PVR (P < 0.01). Left ventricular GLS did not differ between patients and controls (P > 0.05). Right atrial reservoir volume and RV stroke volume generated by AVPD correlated in controls (r = 0.93; P < 0.0001) and patients before PVR (r = 0.88; P < 0.001) but not after PVR. In conclusion, there is a clear atrioventricular coupling in patients before PVR that is lost after PVR, possibly because of loss of pericardial integrity. Impaired atrioventricular coupling complicates assessment of ventricular function after surgery using measurements of longitudinal function. Changes in atrioventricular coupling seen in patients with rToF may be energetically unfavorable, and long-term effects of surgery on atrioventricular coupling is therefore of interest. Also, AVPD and GLS cannot be used interchangeably to assess longitudinal function in rToF.NEW & NOTEWORTHY There is a clear atrioventricular coupling in patients with Tetralogy of Fallot (ToF) and pulmonary regurgitation before surgical pulmonary valve replacement (PVR) that is lost after operation, possibly because of loss of pericardial integrity. The impaired atrioventricular coupling complicates assessment of ventricular function after surgery when using measurements of longitudinal function. Left ventricular atrioventricular plane displacement (AVPD) found differences between patients and controls and changes after PVR that longitudinal strain could not detect. This indicates that AVPD and strain cannot be used interchangeably to assess longitudinal function in repaired ToF.

PMID: 31886724 [PubMed - indexed for MEDLINE]

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Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.

BMC Med Genet. 2020 03 12;21(1):50

Authors: Athota JP, Bhat M, Nampoothiri S, Gowrishankar K, Narayanachar SG, Puttamallesh V, Farooque MO, Shetty S

BACKGROUND: Noonan syndrome (NS), an autosomal dominant developmental genetic disorder, is caused by germline mutations in genes associated with the RAS / mitogen-activated protein kinase (MAPK) pathway. In several studies PTPN11 is one of the genes with a significant number of pathogenic variants in NS-affected patients. Therefore, clinically diagnosed NS individuals are initially tested for pathogenic variants in PTPN11 gene to confirm the relationship before studying genotype-phenotype correlation.
METHODS: Individuals (363) with clinically diagnosed NS from four hospitals in South India were recruited and the exons of PTPN11 gene were sequenced.
RESULTS: Thirty-two previously described pathogenic variants in eight different exons in PTPN11 gene were detected in 107 patients, of whom 10 were familial cases. Exons 3, 8 and 13 had the highest number of pathogenic variants. The most commonly identified pathogenic variants in this series were in exon 8 (c.922A > G, c.923A > G), observed in 22 of the affected. Congenital cardiac anomalies were present in 84% of the mutation-positive cohort, the majority being defects in the right side of the heart. The most common facial features were downward-slanting palpebral fissures, hypertelorism and low-set posteriorly rotated ears. Other clinical features included short stature (40%), pectus excavatum (54%) and, in males, unilateral or bilateral cryptorchidism (44%).
CONCLUSION: The clinical features and mutational spectrum observed in our cohort are similar to those reported in other large studies done worldwide. This is the largest case series of NS-affected individuals with PTPN11 mutations described till date from India.

PMID: 32164556 [PubMed - indexed for MEDLINE]

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The Assessment of the Paediatric Athlete.

J Cardiovasc Transl Res. 2020 May 04;:

Authors: Pieles GE, Oberhoffer R

The success of systematic early age talent development has led to the professionalisation of youth sports academies used by clubs and governing bodies alike, and sports physicians are nowadays commonly confronted with paediatric cardiological problems. Medical cardiac care of the paediatric athlete is however in its infancy, and the international guidelines that are present for adult athletes, are not yet available. Similarly, reference data for ECG and echocardiography are incomplete. The aim of this article is to provide and introduction to the cardiac care of the paediatric athlete to facilitate healthy and above all, safe talent development, but also provide guidance on how to distinguish adaptive, beneficial cardiovascular remodelling from underlying pathology of congenital or inherited cardiovascular disease. Differences in presentation, diagnosis and treatment between childhood and adult athletes are highlighted and can educate the reader in the emerging field of paediatric sports cardiology.

PMID: 32367344 [PubMed - as supplied by publisher]

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Permanent His-bundle Pacing in Pediatrics and Congenital Heart Disease.

J Innov Card Rhythm Manag. 2020 Feb;11(2):4005-4012

Authors: Lyon S, Dandamudi G, Kean AC

Permanent His-bundle pacing has been gaining popularity in the adult population requiring cardiac resynchronization therapy. Initial procedural challenges are being overcome, and this method of pacing has been shown to improve left ventricular function and heart failure symptoms secondary to ventricular dyssynchrony. Though the etiologies of ventricular dyssynchrony may differ in children and those with congenital heart disease than in adults with structurally normal hearts, His-bundle pacing may also be a preferred option in these groups to restore more physiologic electric conduction and improve ventricular function. We present a review of the current literature and suggested directions involving deploying permanent His-bundle pacing in the pediatric and congenital heart disease population.

PMID: 32368373 [PubMed]

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Mildly symptomatic heart failure with reduced ejection fraction: diagnostic and therapeutic considerations.

ESC Heart Fail. 2020 May 05;:

Authors: Arvanitaki A, Michou E, Kalogeropoulos A, Karvounis H, Giannakoulas G

AIMS: Whereas up to about half of patients with heart failure with reduced ejection fraction (HFrEF) report no or only mild symptoms and are considered as clinically stable, the progressive nature of HFrEF, often silent, renders clinical stability a misleading situation, especially if disease progression is unrecognized. We highlight the challenges in the definition of clinical stability and mild symptomatic status in HFrEF, outline clinical characteristics and available diagnostic tools, and discuss evidence and gaps in the current guidelines for the management of these patients.
METHODS AND RESULTS: This is a state-of-the-art review that focuses on clinical, diagnostic, and therapeutic aspects in mildly symptomatic HFrEF patients; summarizes the challenges; and proposes directions for future research in this group of patients. The New York Heart Association classification has been widely used as a measure of prognosis in HFrEF, but it lacks objectivity and reproducibility in terms of symptoms assessment. The definition of clinical stability as described in current guidelines is vague and may often lead to underdiagnosis of disease progression in patients who appear to be 'stable' but in fact are at an increased risk of clinical worsening, hospitalization, or death. Although an increasing number of clinical trials proved that the efficacy of HFrEF therapies was unrelated to the symptomatic status of patients and led to their implementation early in the course of the disease, clinical inertia in terms of under-prescription or underdosing of guideline-recommended medications in mildly symptomatic HFrEF patients is still a challenging issue to deal with.
CONCLUSIONS: Mildly symptomatic status in a patient with HFrEF is very frequent; it should not be ignored and should not be regarded as an index of disease stability. The application of risk scores designed to predict mortality and mode of death should be engaged among mildly symptomatic patients, not only to identify the most suitable HF candidates for cardioverter defibrillator implantation, but also to identify patients who might benefit from early intensification of medical treatment before the implementation of more interventional approaches.

PMID: 32368873 [PubMed - as supplied by publisher]

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Prevalence and Types of Aortic Arch Variants and Anomalies in Congenital Heart Diseases.

Acad Radiol. 2019 07;26(7):930-936

Authors: Tawfik AM, Sobh DM, Ashamallah GA, Batouty NM

RATIONALE AND OBJECTIVES: Aortic arch (AA) variants and anomalies are important to recognize in patients with congenital heart disease (CHD) before surgery or intervention. The aim was to study the prevalence of AA anomalies and variants in patients with CHD compared to a control group. The secondary outcome was to report the associations between common variations of AA and specific types of CHD.
MATERIALS AND METHODS: After institutional review board approval, computed tomography studies of 352 CHD patients and control group of 400 consecutive computed tomography scans of the thorax were evaluated. The AA was assigned to one of seven common types, and their distribution was compared between CHD and control. The distribution of the AA anomalies and variants was evaluated as regard specific types of CHD and the visceroatrial situs.
RESULTS: Normal three-vessel branching pattern was the commonest in both groups, but was present in only 50.5% in the CHD compared to 68.5% in the control group, p < 0.00001. Right AA and aberrant right subclavian artery were significantly more common in CHD than control group (18.1% versus 0.25%, p < 0.00001) and (4.5% versus 0.25%, p = 0.0001), respectively. Direct aortic origin of left vertebral artery was insignificantly more common in CHD group (4.2% versus 2.7%, p = 0.258). Brachiobicephalic trunk was significantly more common in control than CHD group (27.7% versus 19.3%, p = 0.007).
CONCLUSION: Normal three-vessel AA was significantly less common in CHD. AA anomalies (right arch and aberrant right subclavian) were more common in CHD than control, while AA variants (brachiobicephalic trunk and direct aortic origin of left vertebral artery) were not.

PMID: 30266547 [PubMed - indexed for MEDLINE]

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Congenital heart disease in adults (when kids grow up) pediatric geriatric anesthesia.

Curr Opin Anaesthesiol. 2020 May 04;:

Authors: Motta P, Manrique AM, Partington SL, Ullah S, Zabala LM

PURPOSE OF REVIEW: The current review focuses on the new development of adult congenital heart disease (ACHD) patients in the areas of imaging, percutaneous interventions, ventricular assist devices and transplantation.
RECENT FINDINGS: Since the last ACHD publication on the journal, several advances have been made in the evaluation and treatment of these patients. As CHD patients' longevity increases pregnancy, comorbities and acquired heart disease become a concern. Recent data show that the incidence of complications in low-risk CHD is not higher that the regular population. In addition, breakthrough research in percutaneous valve implantation has been published showing good outcomes but needing intensive care recovery in a significant number of patients. In the ACHD heart failure, assist device and transplant fields mounting evidence shows that these therapies should not be the last resort since low-risk ACHD patient may have similar outcomes to those with acquired heart disease. Finally risk stratification is important in ACHD to define better ways to recover from surgery and anesthesia.
SUMMARY: The field of anesthesia for ACHD is growing with new indications for diagnostic, interventional and surgical procedures. Tailoring cardiac and noncardiac care to the different risk profile in ACHD patients will be defined in the next few years.
VIDEO ABSTRACT: Motta summary clip:

PMID: 32371630 [PubMed - as supplied by publisher]

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CHA2DS2-VASc Score Predicts Adverse Outcome in Patients with Simple Congenital Heart Disease Regardless of Cardiac Rhythm.

Pediatr Cardiol. 2020 May 05;:

Authors: Faganello G, Barbati G, Russo G, Scagnetto A, Mazzone C, Mottolese BD', Zaccari M, Sinagra G, Lenarda AD, Cioffi G

Adult patients with simple congenital heart disease (sACHD) represent an expanding population vulnerable to atrial arrhythmias (AA). CHA2DS2-VASc score estimates thromboembolic risk in non-valvular atrial fibrillation patients. We investigated the prognostic role of CHA2DS2-VASc score in a non-selected sACHD population regardless of cardiac rhythm. Between November 2009 and June 2018, 427 sACHD patients (377 in sinus rhythm, 50 in AA) were consecutively referred to our ACHD service. Cardiovascular hospitalization and/or all-cause death were considered as composite primary end-point. Patients were divided into group A with CHA2DS2-VASc score = 0 or 1 point, and group B with a score greater than 1 point. Group B included 197 patients (46%) who were older with larger prevalence of cardiovascular risk factors than group A. During a mean follow-up of 70 months (IQR 40-93), primary end-point occurred in 94 patients (22%): 72 (37%) in group B and 22 (10%, p < 0.001) in group A. Rate of death for all causes was also significantly higher in the group B than A (22% vs 2%, respectively, p < 0.001). Multivariable Cox regression analysis revealed that CHA2DS2-VASc score was independently related to the primary end-point (HR 1.84 [1.22-2.77], p = 0.004) together with retrospective AA, stroke/TIA/peripheral thromboembolism and diabetes. Furthermore, CHA2DS2-VASc score independently predicted primary end-point in the large subgroup of 377 patients with sinus rhythm (HR 2.79 [1.54-5.07], p = 0.01). In conclusion, CHA2DS2-VASc score accurately stratifies sACHD patients with different risk for adverse clinical events in the long term regardless of cardiac rhythm.

PMID: 32372107 [PubMed - as supplied by publisher]

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Normal human and sheep fetal vessel oxygen saturations by T2 magnetic resonance imaging.

J Physiol. 2020 May 05;:

Authors: Saini BS, Darby JRT, Portnoy S, Sun L, van Amerom J, Lock MC, Soo JY, Holman SL, Perumal SR, Kingdom JC, Sled JG, Macgowan CK, Morrison JL, Seed M

KEY POINTS: Human fetal Doppler ultrasound and invasive blood gas measurements obtained by cordocentesis or at the time of delivery reveal similarities with sheep (an extensively used model of human fetal cardiovascular physiology). Oxygen saturation (SO2 ) measurements in human fetuses have been limited to the umbilical and scalp vessels, providing little information about normal regional SO2 differences in the fetus. Blood T2 MRI relaxometry presents a non-invasive measure of SO2 in the major fetal vessels. This study presents the first in vivo validation of fetal vessel T2 oximetry against the in vitro T2-SO2 relationship using catheterized sheep fetuses and compares the normal SO2 in the major vessels between the human and sheep fetal circulations. Human fetal vessel SO2 by T2 MRI confirms many similarities with the sheep fetal circulation and is able to demonstrate regional differences in SO2 , in particular the significantly higher SO2 in the left versus right heart.
ABSTRACT: Blood T2 magnetic resonance imaging (MRI) relaxometry non-invasively measures oxygen saturation (SO2 ) in major vessels but has not been validated in fetuses in vivo. We compared the blood T2-SO2 relationship in vitro (tubes) and in vivo (vessels) in sheep and measured SO2 across the normal human and sheep fetal circulations by T2. Singleton pregnant ewes underwent surgery to implant vascular catheters. In vitro and in vivo sheep blood T2 measurements were related to corresponding SO2 measured using a blood gas analyser, as well as relating T2 and SO2 of human fetal blood in vitro. MRI oximetry was performed in major vessels of 30 human fetuses at 36 weeks (term, 40 weeks) and 10 fetal sheep (125 days; term, 150 days). The fidelity of in vivo fetal T2 oximetry was confirmed through comparison of in vitro and in vivo sheep blood T2-SO2 relationships (P = 0.1). SO2 was similar between human and sheep fetuses as was fetal oxygen extraction fraction (human, 33 ± 11%; sheep, 34 ± 7%; P = 0.798). The presence of streaming in the human fetal circulation was demonstrated by the SO2 gradient between the ascending aorta (68 ± 10%) and the main pulmonary artery (49 ± 9%; P<0.001). Human and sheep fetal vessel MRI oximetry based on T2 is a validated approach that confirms the presence of streaming of umbilical venous blood towards the heart and brain. Streaming is important in ensuring oxygen delivery to these organs and its disruption may have important implications for organ development, especially in conditions such as congenital heart disease and fetal growth restriction. This article is protected by copyright. All rights reserved.

PMID: 32372463 [PubMed - as supplied by publisher]