Isolated congenital cleft mitral valve leaflet: a rare cause of refractory cardiogenic shock complicating acute myocardial infarction

We report a unique presentation of isolated congenital cleft mitral valve complicating cardiogenic shock from acute myocardial infarction. Isolated cleft mitral valve is an uncommon diagnosis that can have significant clinical implications, especially if not recognized in patients presenting to the catheterization lab with acute myocardial infarction and cardiogenic shock. A review of this rare diagnosis including the options and timing of therapeutic interventions, which can include MitraClip, is important for publication.The case is of a patient who presented with an anterior acute ST elevation myocardial infarction. Despite early coronary revascularization and conventional support, refractory cardiogenic shock ensued requiring mechanical circulatory support escalation to Veno-arterial extracorporeal membrane oxygenation. Subsequently, left ventriculography revealed a massively dilated left atrium and severe mitral regurgitation raising concerns for a mechanical mitral valve complication. The patient was taken to the operating room for possible mitral valve surgery, but a preoperative transesophageal echocardiogram revealed an isolated posterior cleft mitral valve. Since the patient had stabilized on mechanical circulatory support, emergent surgery was deferred. The patient successfully recovered during index hospitalization with mechanical circulatory support and discharged on guideline directed medical therapy.In conclusion, isolated cleft mitral valve is a rare diagnosis that can often be underrecognized without comprehensive 3-dimensional transesophageal echocardiography evaluation. If diagnosed early with significant regurgitation, surgical treatment results in good outcomes and preservation of LV systolic function. Percutaneous correction of a CMVL with MitraClip has been described and may offer an alternative approach for high risk surgical patients.

Profile of congenital heart disease and access to definitive care among children seen at Gulu Regional Referral Hospital in Northern Uganda: a four-year experience

Objectives The aim of this study was to describe the profile of Congenital Heart Disease [CHD] and access to definitive surgical or catheter-based care among children attending a regional referral hospital in Northern Uganda. Methods This was a retrospective chart review of all children aged less than 17 years attending Gulu Regional Referral Hospital Cardiac clinic from November 2013 to July 2017. Results A total of 295 children were diagnosed with CHD during the study period. The median age at initial diagnosis was 12 months [IQR: 4–48]. Females comprised 59.3% [n = 175] of cases. Diagnosis in the neonatal period accounted for only 7.5 % [n = 22] of cases. The commonest CHD seen was ventricular septal defect [VSD] in 19.7 % [n = 58] of cases, followed by atrioventricular septal defect (AVSD) in 17.3 % [n = 51] and patent ductus arteriosus (PDA) in 15.9 % [n = 47]. The commonest cyanotic CHD seen was tetralogy of Fallot [TOF] in 5.1 % [n = 15], followed by double outlet right ventricle [DORV] in 4.1 % [n = 12] and truncus arteriosus in 3.4% [n = 10]. Dextro-transposition of the great arteries [D-TGA] was seen in 1.3 % [n = 4]. At initial evaluation, 76 % [n = 224] of all CHD cases needed definitive intervention and 14 % of these children [n = 32] had accessed surgical or catheter-based therapy within 2 years of diagnosis. Three quarters of the cases who had intervention [n = 24] had definitive care at the Uganda Heart Institute (UHI), including all 12 cases who underwent catheter-based interventions. No mortalities were reported in the immediate post-operative period and in the first annual follow up in all cases who had intervention. Conclusions There is delayed diagnosis of most rural Ugandan Children with CHD and access to definitive care is severely limited. The commonest CHD seen was VSD followed by AVSD. The majority of patients who had definitive surgery or transcatheter intervention received care in Uganda.

Pregnancy in the FONTAN palliation: physiology, management and new insights from bioengineering

Fontan palliation for the single ventricle results in a challenging and delicate physiological state. At rest, the body adapts to a low cardiac output and high systemic venous pressure. However, when physiological demands increase, such as in the case of exercise or pregnancy, this delicate physiology struggles to adapt due to the inability of the heart to pump blood into the lungs and the consequent lack of augmentation of the cardiac output.Due to the advances in paediatric cardiology, surgery and intensive care, today most patients born with congenital heart disease reach adulthood. Consequently, many women with a Fontan circulation are becoming pregnant and so far data suggest that, although maternal risk is not high, the outcomes are poor for the foetus. Little is known about the reasons for this disparity and how the Fontan circulation adapts to the physiological demands of pregnancy.Here we review current knowledge about pregnancy in Fontan patients and explore the potential role of computational modelling as a means of better understanding this complex physiology in order to potentially improve outcomes, particularly for the foetus.

Down syndrome and congenital heart disease: perioperative planning and management

Approximately 50% of newborns with Down syndrome have congenital heart disease. Non-cardiac comorbidities may also be present. Many of the principles and strategies of perioperative evaluation and management for patients with congenital heart disease apply to those with Down syndrome. Nevertheless, careful planning for cardiac surgery is required, evaluating for both cardiac and noncardiac disease, with careful consideration of the risk for pulmonary hypertension. In this manuscript, for children with Down syndrome and hemodynamically significant congenital heart disease, we will summarize the epidemiology of heart defects that warrant intervention. We will review perioperative planning for this unique population, including anesthetic considerations, common postoperative issues, nutritional strategies, and discharge planning. Special considerations for single ventricle palliation and heart transplantation evaluation will also be discussed. Overall, the risk of mortality with cardiac surgery in pediatric patients with Down syndrome is no more than the general population, except for those with functional single ventricle heart defects. Underlying comorbidities may contribute to postoperative complications and increased length of stay. A strong understanding of cardiac and non-cardiac considerations in children with Down syndrome will help clinicians optimize perioperative care and long-term outcomes.

Reversible acute Fontan circulation failure secondary to retrogradely conducted junctional rhythm: clinical echocardiographic correlation

Background Sequential atrioventricular activation plays a critical role in the physiology of Fontan circulation. Although bradycardia is usually well tolerated, retrogradely conducted junctional rhythm may acutely increase atrial pressure impairing cardiac output. Echocardiographic evaluation can reveal clues of this hemodynamic condition. The clinical impact of arrhythmic disturbance on the follow up of patients who had undergone total cavo-pulmonary connection is well recognized but the role of, transient periods of retrogradely conducted junctional rhythm on the immediate post-operative course is less defined. Case presentation We describe two cases of acute Fontan circulatory failure due to postoperative retrogradely conducted junctional escape rhythm despite an adequate heart rate and circadian variation. The patients rapidly improved after atrial pacing, allowing discharge with a minimal dose of diuretic. Conclusion In the absence of any hemodynamic target, hearth rhythm should be systematically checked after TCPC irrespective of adequacy of heart rate. Likewise, efficiency of temporary atrial pacing should be granted and surgeons should have a low threshold for epicardial lead implantation.

The microbiome’s relationship with congenital heart disease: more than a gut feeling

Patients with congenital heart disease (CHD) are at risk for developing intestinal dysbiosis and intestinal epithelial barrier dysfunction due to abnormal gut perfusion or hypoxemia in the context of low cardiac output or cyanosis. Intestinal dysbiosis may contribute to systemic inflammation thereby worsening clinical outcomes in this patient population. Despite significant advances in the management and survival of patients with CHD, morbidity remains significant and questions have arisen as to the role of the microbiome in the inflammatory process. Intestinal dysbiosis and barrier dysfunction experienced in this patient population are increasingly implicated in critical illness. This review highlights possible CHD-microbiome interactions, illustrates underlying signaling mechanisms, and discusses future directions and therapeutic translation of the basic research.

Update on fetal cardiovascular magnetic resonance and utility in congenital heart disease

Background Congenital heart disease (CHD) is the most common birth defect, affecting approximately eight per thousand newborns. Between one and two neonates per thousand have congenital cardiac lesions that require immediate post-natal treatment to stabilize the circulation, and the management of these patients in particular has been greatly enhanced by prenatal detection. The antenatal diagnosis of CHD has been made possible through the development of fetal echocardiography, which provides excellent visualization of cardiac anatomy and physiology and is widely available. However, late gestational fetal echocardiographic imaging can be hampered by suboptimal sonographic windows, particularly in the setting of oligohydramnios or adverse maternal body habitus. Main body Recent advances in fetal cardiovascular magnetic resonance (CMR) technology now provide a feasible alternative that could be helpful when echocardiography is inconclusive or limited. Fetal CMR has also been used to study fetal circulatory physiology in human fetuses with CHD, providing new insights into how these common anatomical abnormalities impact the distribution of blood flow and oxygen across the fetal circulation. In combination with conventional fetal and neonatal magnetic resonance imaging (MRI) techniques, fetal CMR can be used to explore the relationship between abnormal cardiovascular physiology and fetal development. Similarly, fetal CMR has been successfully applied in large animal models of the human fetal circulation, aiding in the evaluation of experimental interventions aimed at improving in utero development. With the advent of accelerated image acquisition techniques, post-processing approaches to correcting motion artifacts and commercial MRI compatible cardiotocography units for acquiring gated fetal cardiac imaging, an increasing number of CMR methods including angiography, ventricular volumetry, and the quantification of vessel blood flow and oxygen content are now possible. Conclusion Fetal CMR has reached an exciting stage whereby it may now be used to enhance the assessment of cardiac morphology and fetal hemodynamics in the setting of prenatal CHD.

Routine surveillance of patients post Fontan palliation: lessons learnt from cardiac catheterisation

Background There is no consensus on the clinical utility of ‘routine’ diagnostic cardiac catheterisation in patients with Fontan palliation in the absence of symptoms or haemodynamic lesions. Objective We sought to evaluate whether diagnostic cardiac catheterisation for a variety of indications led to a change in the clinical management of patients with a Fontan circulation. Methods All adult patients (≥16 years) with Fontan palliation undergoing diagnostic cardiac catheterisation at our institution from 2016 to 2019 were included retrospectively. Patients undergoing electrophysiological studies were excluded as haemodynamic measurements were not taken. Routine cardiac catheterisation at our institution is considered in adult patients who have not had a diagnostic cardiac catheter for more than 5 years. Results Thirty-eight patients, mean age 27 ± 7 years, 60% NYHA I, 31% NYHA II, 8% NYHA III, at mean duration post Fontan of 20 ± 6 years, lateral tunnel (LT) n = 20, extracardiac (EC) n = 14 and atriopulmonary (AP) n = 4, underwent 41 diagnostic cardiac catheterisation procedures. Indication for cardiac catheterisation was as follows: haemodynamic lesion identified on cross-sectional imaging in 12; routine catheterisation in 9; cyanosis in 8; dyspnoea in 8; significant liver stiffness on ultrasound hepatic elastography in 2; and arrhythmia in 2. Of the 9 patients undergoing routine diagnostic catheterisation, 3 had not had any diagnostic catheterisation since their Fontan completion and, in the remaining six, the mean time lapsed since the last diagnostic catheter was 8 ± 3 years. The diagnostic catheterisation led to a recommended change in clinical management on 24 occasions (59%): catheter intervention in 17 (40%); surgery in 4 (10%); medication change in 3 (17%); and transplant referral in 2 (5%). The clinical indications that led to changes in clinical management were: cyanosis (8/8), dyspnoea (7/8), haemodynamic lesions on cross-sectional imaging (8/11) and arrhythmia (1/2). None of the 9 patients listed for routine diagnostic catheterisation or as a result of findings on ultrasound hepatic elastography had a recommended change in clinical management. Conclusion Diagnostic cardiac catheterisation frequently leads to changes in the clinical management of patients with Fontan palliation presenting with dyspnoea, cyanosis, and for further evaluation of potential haemodynamic lesions identified on cross-sectional imaging. Routine cardiac catheterisation in the absence of the above indications had limited impact on clinical management in our cohort.

Cardiac disease in Down Syndrome: literature review and international expert consensus in collaboration with Down Syndrome International (DSi)

Background Congenital heart disease is common in patients with Down syndrome, yet clinical recommendations relating to its diagnosis and management in this patient group are lacking. Main body We discuss the ongoing collaboration between an international panel of cardiovascular experts and expert stakeholders from Down Syndrome International, an international disabled people's organisation with membership of organisations and individuals from 136 countries worldwide. The aim of this collaboration is to describe best clinical practice, focusing on 10 key areas relating to Down syndrome and cardiac disease, from prenatal diagnosis to the care of patients in areas of differing resource availability. Conclusions The planned expert consensus statement on cardiac disease in people with Down syndrome aims to foster communication between experts, direct future research and inform future practice guidelines for the diagnosis and management of cardiovascular disease in people with Down syndrome.

Congenital heart disease in Down syndrome – A review of temporal changes

Background Congenital heart disease (CHD) is a well-known co-occurring condition in Down syndrome (DS). We aimed to review the literature to evaluate the current evidence to address key questions. Methods A series of key questions were formulated a priori to inform the search strategy and review process. These addressed the topics of prevalence, type of CHD, severity, and screening. Using the National Library of Medicine database, PubMed, detailed literature searches were performed. The quality of available evidence was then evaluated, the existing literature was summarized, and knowledge gaps were identified. Results Fifty-six relevant original articles were identified which addressed at least one key question. Study details, including: research design, internal validity, external validity, and relevant results are presented. The total prevalence of CHD reported in DS ranged from 20 to 57.9%. In later decades, the prevalence remained constant at 40—55%. The types and classification of CHD varied considerably between studies. Some studies indicate a trend towards a milder phenotype, but this was not consistent. Over time, some studies observed an improved prognosis for CHD in DS. Studies investigating screening for CHD by physical examination, chest X-ray, and electrocardiogram report sensitivities of 71–95%. Conclusion To further improve knowledge on CHD in DS, we suggest that future studies cover a wide range of nations and regions, with a longitudinal design, and account for potential confounding factors.