Depressed Ventricular Function Research Articles

Endovascular treatment of peripheral artery disease is associated with improved central hemodynamics and ventricular function

Abstract Background Peripheral artery disease (PAD) is a major manifestation of atherosclerosis and a risk factor for morbidity and mortality. PAD itself is associated with increased arterial stiffness with impact on cardiac functions. Previous studies have demonstrated that augmentation index (AIx) and central blood pressure (CBP) correlate with increased cardiovascular mortality. This mechanism has been described as arterio-ventricular (AV) coupling with altered ventricular afterload and a depressed ventricular function, measured by global longitudinal strain (GLS). The impact of PAD-related endovascular treatment on arterial stiffness, central hemodynamics and potential impact on AV coupling has not been elucidated until now. Purpose Aim of the study was to investigate, if endovascular treatment of PAD improves cardiac function via enhanced central hemodynamics and AV coupling. Methods To this aim 77 patients with known symptomatic PAD who underwent interventions in the iliac and femoropopliteal arteries were included in a cross-sectional study. AIx, CBP and GLS were determined using dedicated waveform analysis and echocardiography before and after endovascular treatment. Results Mean age was 65.1±10.4 years with 66.2% male patients. Symptoms were classified by Fontaine classification (stage IIb 80.7%, stage III 5.8% and stage IV 13.5%). Iliac vessel intervention was performed in 16 and femoropopliteal intervention in 61 cases. A stentless approach was feasible in 55 patients with DCB treatment and atherectomy. After endovascular treatment, peripheral perfusion was enhanced (ABI 0.45±0.6 vs 0.81±0.5, p<0.0001). Moreover, central hemodynamics were improved (AIX 33.7±3% vs 27.9±2%, p=0.0008; AP 17.8±2 mmHg vs 14.0±2 mmHg, p=0.0004; central PP 52.4±6 mmHg vs 46.4±6 mmHg, p=0.0001). Impressively, left ventricular function was also significantly improved (GLS −15.7±2.3% vs −17.1±2.8%, p=0.005) with an improvement in AV coupling (PWV/GLS ratio −0.58m/sec% vs −0.56m/sec%, p<0.01). Conclusion Our results demonstrate that endovascular treatment of the peripheral vessels is associated with an improvement of central hemodynamics and left ventricular function via enhanced AV coupling. These prognostic relevant markers of cardiovascular disease could point to an overall potential mortality benefit through PAD treatment. Further investigation of the underlying mechanisms of AV coupling in the setting of endovascular treatment of PAD with impact on cardiovascular mortality is needed in this high-risk population. Funding Acknowledgement Type of funding source: None

Iron status, anemia and functional capacity in adults with congenital heart disease: a single center analysis

Abstract Background Iron is essential to the mitochondrial energy production in cardiomyocytes and its depletion is negatively associated with symptoms, functional capacity, quality of life and outcomes in patients with heart failure – independent of anemia. The relevance of iron deficiency in adults with congenital heart disease however has not been evaluated to date, and we thus aimed to evaluate it in an all-comer cohort of patients with congenital heart disease in correlation with symptoms and functional capacity. Methods and results 527 patient cases from one referral center over 2 years were evaluated concerning their iron status, anemia, functional capacity and ejection fraction of their systemic ventricle. 264 were female, 94 had a shunt lesion, 96 had left-sided obstructive lesions, 181 right-sided lesions, while 108 were considered to have complex lesions and 28 were cyanotic. The median age was 34 years, the mean BMI was 25.2±5 kg/m2, 429 patients had a normal ejection fraction and 34 moderately and severely depressed. 35 patients were classified as NYHA III, and 56 as NYHA II, while their functional capacity was evaluated via cardiopulmonary testing with a mean VO2max/kg of 22.6±6.5 and mean 69±17% of the expected. The mean serum iron concentration was 99.4±42.3 mcg/dL, their mean transferrin saturation was 27.36±13%, the mean ferritin concentration was 130.8±185 ng/mL, the mean soluble transfer factor was 1.3±0.66 mg/l and their mean Hemoglobin 14.8±2 mg/dL, while the mean MCV was 88±5.3 and the mean MCHC 33.7±1.4. 40 patients were anemic according to the WHO definition for anemia, in 28 of those patients that was already known. Iron deficiency according to stratified according to ferritin was present in 53 patients. However, when stratified according to the heart failure guidelines definition for iron deficiency 299 patients were found affected. Using the soluble transferrin receptor (sTfR) and sTfR-ferritin index iron deficiency was suspected in 10 additional individuals. Iron deficiency was associated with the ejection fraction (p=0.0001) - patients with moderately or severely depressed systemic ventricular function more often were diagnosed with iron deficiency (p=0.007)-, while it did not correlate with functional NYHA classification (p=0.622) or functional capacity (p=0.1 and 0.057). Iron deficiency was also not found significantly different amongst congenital defects but did correlate with all laboratory iron studies. Conclusions In this ambulatory population of adults with congenital heart disease we found an association of ejection fraction with iron deficiency, however no association of iron deficiency with functional capacity. The question arising is if a new definition of iron deficiency anemia in congenital heart disease similar to heart failure would be of clinical value. Funding Acknowledgement Type of funding source: None

DMD & BMD – CLINICAL: P.52 The natural history of the cardiomyopathy of Duchenne and Becker muscular dystrophy

Duchenne/Becker muscular dystrophy (DMD/BMD) is a progressive skeletal myopathy as well as a cardiomyopathy. Historically, it is reported that patients with DMD/BMD experience significant morbidity/mortality as a result of rhythm abnormalities. However, natural history data is limited regarding the specific mode of death, e.g. heart failure vs. sudden cardiac death vs. non-cardiac death. We identified 82 patients at our institution to analyze retrospectively (67 DMD/15 BMD). Average age was 21 (range 10-38) years. We obtained demographics, Holter monitors, electrocardiograms, and mortality on all patients. We classified cardiac function based on left ventricular ejection fraction (LVEF), defined as normal (>/= 55%), mild-to-moderately depressed (35-54%), or severely depressed (<35%). Cardiac arrhythmias occurred in 22 patients (27%), with rates of 19%, 18%, and 59% in patients with normal, mild-to-moderately depressed, and severely depressed LV EF, respectively. Abnormalities included non-sustained ventricular tachycardia (10 patients, 12%), ventricular fibrillation (10 patients, 12%), and supraventricular tachycardia (5 patients, 6%). There were 5 patients (6%) with multiple arrhythmia types. The mortality rate was 10% with only 2 of the 8 deaths being cardiogenic (1 cardiac arrest, 1 heart failure). The majority of patients had a non-cardiac cause of death, including sepsis, renal failure, and respiratory failure. Both patients with cardiac deaths had severely depressed LVEF and 1 had a history of arrhythmia. Consistent with previous studies, cardiac arrhythmias occurred more frequently in patients with severe left ventricular dysfunction. However, mortality was rarely due to a cardiac etiology, with sudden death representing only a subset of these. This data informs us that surveillance for cardiac rhythm abnormalities and treatment of arrhythmias should be targeted to individuals with severely depressed ventricular function.

A comparison of artificial intelligence-based algorithms for the identification of patients with depressed right ventricular function from 2-dimentional echocardiography parameters and clinical features

Recognizing low right ventricular (RV) function from 2-dimentiontial echocardiography (2D-ECHO) is challenging when parameters are contradictory. We aim to develop a model to predict low RV function integrating the various 2D-ECHO parameters in reference to cardiac magnetic resonance (CMR)-the gold standard. We retrospectively identified patients who underwent a 2D-ECHO and a CMR within 3 months of each other at our institution (American University of Beirut Medical Center). We extracted three parameters (TAPSE, S' and FACRV) that are classically used to assess RV function. We have assessed the ability of 2D-ECHO derived parameters and clinical features to predict RV function measured by the gold standard CMR. We compared outcomes from four machine learning algorithms, widely used in the biomedical community to solve classification problems. One hundred fifty-five patients were identified and included in our study. Average age was 43±17.1 years old and 52/156 (33.3%) were females. According to CMR, 21 patients were identified to have RV dysfunction, with an RVEF of 34.7%±6.4%, as opposed to 54.7%±6.7% in the normal RV population (P<0.0001). The Random Forest model was able to detect low RV function with an AUC =0.80, while general linear regression performed poorly in our population with an AUC of 0.62. In this study, we trained and validated an ML-based algorithm that could detect low RV function from clinical and 2D-ECHO parameters. The algorithm has two advantages: first, it performed better than general linear regression, and second, it integrated the various 2D-ECHO parameters.

Atrial Fibrillation Management in Heart Failure: Interrupting the Vicious Cycle

In this review article, we aim to describe the pathophysiology of concomitant atrial fibrillation and both left and right heart failure, as well as pronounce the prognosis of having these two conditions simultaneously. This review also summarizes the current management of atrial fibrillation including stroke and thromboembolism prevention in the presence of systolic and diastolic heart failure. While rhythm control strategy is not superior to rate control strategy in atrial fibrillation patients without heart failure, catheter ablation for atrial fibrillation has shown to improve outcomes in patients with coexisting heart failure. Atrial fibrillation is the most common arrhythmia that frequently coexists with heart failure. The incidence of one condition increases in the presence of the other posing a significant treatment challenge. Despite ample advancement in management strategies of atrial fibrillation and heart failure, this combination is associated with higher morbidity and mortality when found in the same patient. The treatment goal in these patients is to improve quality of life by controlling symptoms and to prevent thromboembolism with appropriate anticoagulation. Catheter ablation is a promising treatment option for symptomatic patients with depressed ventricular function. Finally, pacing with cardiac resynchronization therapy after AV nodal ablation should be considered when strict control of ventricular rate is desired in atrial fibrillation patients who meet the criteria for device implantation.

Eating Cheerios on ECMO: The Use of VA ECMO as a Bridge to Lung Transplant in an Infant

Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary hypertension. In PVOD the pulmonary venous vessels are obliterated resulting in obstructive pulmonary vascular disease, increase in pulmonary vascular resistance, right heart failure and death. Pulmonary hypertension is the most common reason for lung transplant in infants. Lung transplant is the only therapy for PVOD. Prolonged intubation, deconditioning and extra corporeal life support are associated with poor outcomes after lung transplant. We present a case of PVOD in an infant who had successful lung transplant using a novel veno-arterial extracorporeal membrane oxygenation (VA ECMO) configuration. A previously healthy 15-month-old male presented with cough and tachypnea. Cardiomegaly and pulmonary edema were seen on chest x-ray. Echocardiogram revealed severe pulmonary hypertension. Cardiac catheterization study and chest computed tomography revealed PVOD. He was unable to be extubated after cardiac catheterization and was transferred to our institution for lung transplant evaluation. He had severely depressed right ventricular function, requiring vasopressors to maintain hemodynamic stability. Respiratory status was tenuous, requiring sedation and paralysis. He was evaluated and listed for lung transplant. The patient was centrally cannulated for VA ECMO using cannulae for a ventricular assist device (Berlin ExCor) that were exteriorized on the abdomen. "Venous" inflow cannula was placed in the main pulmonary artery to provide afterload reduction for the right ventricle. After starting VA ECMO, vasopressor support, respiratory support, paralysis and sedation were weaned. He was woken up, extubated; and intensive physical and occupational rehabilitation began. He regained strength, was able to sit, stand and take steps. He also regained his milestones, was able to babble, wave and eat simple foods. The patient remained on VA ECMO for 61 days until he successfully underwent lung transplantation. Our case highlights the successful use of a novel VA ECMO configuration as a bridge to lung transplant in an infant with PVOD. To our knowledge this is the youngest patient to undergo awake VA ECMO reported. The use of a unique cannulation allowed for rehabilitation while on VA ECMO. Though challenging, VA ECMO remains an option as a bridge to lung transplant in infants with PVOD.

Prediction of prognosis in patients with tetralogy of Fallot based on deep learning imaging analysis

ObjectiveTo assess the utility of machine learning algorithms for automatically estimating prognosis in patients with repaired tetralogy of Fallot (ToF) using cardiac magnetic resonance (CMR).MethodsWe included 372 patients with ToF...

Low mortality in fetal supraventricular tachycardia: Outcomes in a 30-year single-institution experience.

To describe a single institutional experience managing fetuses with supraventricular tachycardia (SVT) and to identify associations between patient characteristics and fetal and postnatal outcomes. Sustained fetal SVT is associated with significant morbidity and mortality if untreated, yet the optimal management strategy remains unclear. Retrospective cohort study including fetuses diagnosed with sustained SVT (>50% of the diagnostic echocardiogram) between 1985 and 2018. Fetuses with congenital heart disease were excluded. Sustained SVT was diagnosed in 65 fetuses at a median gestational age of 30 weeks (range, 14-37). Atrioventricular re-entrant tachycardia and atrial flutter were the most common diagnoses, seen in 41 and 16 cases, respectively. Moderate/severe ventricular dysfunction was present in 20 fetuses, and hydrops fetalis was present in 13. Of the 57 fetuses initiated on transplacental drug therapy, 47 received digoxin first-line, yet 39 of 57 (68%) required advanced therapy with sotalol, flecainide, or amiodarone. Rate or rhythm control was achieved in 47 of 57 treated fetuses. There were no cases of intrauterine fetal demise. Later gestational age at fetal diagnosis (odds ratio [OR], 1.1, 95% confidence interval [CI], 1.01-1.2, P = .02) and moderate/severe fetal ventricular dysfunction (OR, 6.1, 95% CI, 1.7-21.6, P = .005) were associated with postnatal SVT. Two postnatal deaths occurred. Fetuses with structurally normal hearts and sustained SVT can be effectively managed with transplacental drug therapy with minimal risk of intrauterine fetal demise. Treatment requires multiple antiarrhythmic agents in over half of cases. Later gestational age at fetal diagnosis and the presence of depressed fetal ventricular function, but not hydrops, predict postnatal arrhythmia burden.

ISOLATED RIGHT VENTRICULAR NON COMPACTION: A VERY RARE GENETIC CAUSE OF CARDIOMYOPATHY

Isolated right ventricular non compaction is a very rare genetic cause of cardiomyopathy that leads to arrested intrauterine development of endomyocardial tissue resulting in spaced trabeculae that can result in arrhythmia and depressed right ventricular function. It is associated with congenital

Abstract TMP111: Risk Factors Associated With Watershed Stroke in Pediatric Patients Undergoing Fontan Operation

Introduction: Cardiac disease is one of the leading causes of stroke in children. In an effort to separate pulmonary and systemic circulations, patients with single ventricle physiology undergo the Fontan surgery. Watershed strokes have been reported as a complication of Fontan surgery but literature on its prevalence and associated risk factors is lacking. Methods: Retrospective review of records of patients who underwent Fontan operation at our center from 2007 to 2018. Demographic, clinical, imaging, and outcome data were documented for all patients. Key risk factors evaluated:cardiac diagnosis, presence of significant AV-valve regurgitation, poor ventricular function, cardio-pulmonary bypass (CPB) time, Hematocrits, mean arterial pressure (Map) and significance of post-operative resuscitation measured by cardiac index and vasoactive infusion score. Univariate logistic regression was used for analyses, and a p-value of &lt;0.05 was considered statistically significant. Results: We identified 149 patients;14 (10%) had clinical evidence and radiographic confirmation of a watershed stroke. There were no arterial ischemic strokes.From all the variables analyzed (Table 1), patients with significant A-V valve regurgitation pre- and post-operatively, depressed single ventricular function, and underlying diagnosis of hypoplastic left heart syndrome (HLHS) were at a higher risk for watershed strokes. No other risk factors were identified. (Table 1). All had no significant motor deficits at discharge. Conclusion: At our center, watershed infarcts occurred in 10% of patients undergoing Fontan surgery. Cardiac disease diagnosis and factors associated to cardiac function were significant risk factors for watershed stroke rather than surgical related variables.

Reexamining remodelling in children.

Some studies have suggested that root remodelling is unsuitable as valve-sparing aortic root replacement in children because of the increased risk of valve failure. This study reviewed our experience with root remodelling in children. All patients who underwent root remodelling at the age of ≤18 years between 1999 and 2016 were evaluated. In 2004, cusp effective height was measured intraoperatively and prolapse was corrected with central plication on the cusp. Suture annuloplasty was introduced after 2009 for annular dilatation. There were 17 consecutive patients. The median age at operation was 14 (2.8-18) years. Aortic valve morphology was tricuspid in 10 patients, bicuspid in 5 patients, unicuspid in 1 patient and a pulmonary autograft in 1 patient. Marfan syndrome, Loeys-Dietz syndrome and other connective tissue diseases were present in 11, 1 and 2 patients, respectively. Five patients had more than moderate aortic regurgitation. The median graft size used for root remodelling was 24 (18-26) mm. Cusp repair and annuloplasty were performed in 15 and 14 patients, respectively. The mean follow-up time was 6.5 ± 4.3 years. One patient with preoperatively severely depressed ventricular function died in the hospital from persistent heart failure. One patient (operated on before 2004) required aortic valve reoperation due to cusp prolapse. One patient with a unicuspid valve had developed moderate aortic regurgitation, and the other 14 patients had mild or less regurgitation. The median diameter of the sinus of Valsalva at the last follow-up was 36 (30-43) mm, Z-score of 1.5 (-3.5 to 3.9). Root remodelling can be performed in children with favourable results by appropriate cusp repair and annuloplasty.

Pathophysiology and Risk Stratification of Sudden Cardiac Death in Ischemic Heart Disease

Sudden cardiac death accounts for approximately 360,000 annually in the United States and is the cause of half of all cardiovascular deaths. Ischemic heart disease is the major cause of death in the general adult population. Sudden cardiac death can be due to arrhythmic or non-arrhythmic cardiac causes, for example, myocardial rupture. Arrhythmic sudden cardiac death may be caused by ventricular tachyarrhythmia (ventricular tachycardia/ventricular fibrillation) or pulseless electrical activity/asystole. The majority of research in risk stratification centers on ventricular tachyarrhythmias simply because of the availability of a successful management strategy, the implantable cardioverter/ defibrillator. Currently the main criterion of primary defibrillator prophylaxis is the presence of organic heart disease and depressed left ventricular systolic function assessed as left ventricular ejection fraction. However, only one third of eligible patients benefit from the implantable defibrillator, resulting in significant redundancy in the use of the device. The cost to the health care system of sustaining this approach is substantial. Further, the current low implantation rate among eligible population probably reflects a perceived low benefit-to-cost ratio of the device. Therefore, attempts to optimize the selection process for primary implantable defibrillator prophylaxis are paramount. The present report will review the most recent pathophysiology and risk stratification strategies for sudden cardiac death beyond the single criterion of depressed ejection fraction. Emphasis will be placed on electrophysiological surrogates of conduction disorder, dispersion of repolarization, and autonomic imbalance, which represent our current understanding of the electrophysiological mechanisms that underlie the initiation of ventricular tachyarrhythmias. Further, factors that modify arrhythmic death, including noninvasive risk variables, biomarkers, and genomics will be addressed. These factors may have great utility in predicting sudden cardiac arrhythmic death in the general public.

Heart failure patients unresponsive to implantable cardioverter-defibrillator therapy: a neglected problem.

Heart failure patients unresponsive to implantable cardioverter-defibrillator therapy: a neglected problem.

More than the heart: Hepatic, renal, and cardiac dysfunction in adult Fontan patients.

Fontan-associated liver disease universally affects adults with single ventricle heart disease. Chronic kidney disease is also highly prevalent in adult Fontan patients. In this study, we evaluate the relationship of Fontan hemodynamics invasively and noninvasively with extra-cardiac dysfunction as measured by MELD and MELD-XI. We hypothesize that invasive and noninvasive measures of Fontan circuit congestion and ventricular dysfunction are associated with increased MELD and MELD-XI scores. Single-center data from adults with Fontan palliation who had ongoing care, including cardiac catheterization, were retrospectively collected. Hemodynamic data from cardiac catheterization and echocardiographic assessment of ventricular and atrioventricular valve function were tested for association with serum creatinine, MELD, and MELD-XI. Linear regression was used to perform multivariable analysis in the echocardiogram cohort. Fifty-seven patients had congruent lab and catheterization data for analysis. Sixty-three and sixty-nine patients had congruent lab and echocardiogram data for MELD and MELD-XI, respectively. Of the hemodynamic variables analyzed, only decreased systemic oxygen saturation had significant correlation with elevated MELD and MELD-XI (P=.045). Patients with moderately or severely reduced ejection fraction by echocardiogram had significantly higher MELD and MELD-XI scores compared to those with normal or mildly depressed systolic ventricular function (P=.008 and P<.001 for MELD and MELD-XI, respectively). Significant differences in creatinine were also found among the ventricular dysfunction groups (P=.02). In adults following Fontan palliation, systolic ventricular dysfunction and decreased oxygen saturation were associated with hepatic and renal dysfunction as assessed by elevated serum creatinine, MELD, and MELD-XI scores.

Hand-held echocardiography in children with hypoplastic left heart syndrome.

When performed by cardiologists, hand-held echocardiography (HHE) can assess ventricular systolic function and valve disease in adults, but its accuracy and utility in congenital heart disease is unknown. In hypoplastic left heart syndrome (HLHS), the echocardiographic detection of depressed right ventricular (RV) systolic function and higher grade tricuspid regurgitation (TR) can identify patients who are at increased risk of morbidity and mortality and who may benefit from additional imaging or medical therapies. Children with HLHS after Stage I or II surgical palliation (Norwood or Glenn procedures) were prospectively enrolled. Subjects underwent HHE by a pediatric cardiologist on the same day as standard echocardiography (SE). Using 4-point scales, bedside HHE assessment of RV systolic function and TR were compared with blinded assessment of offline SE images. Concordance correlation coefficient (CCC) was used to evaluate agreement. Thirty-two HHEs were performed on 15 subjects (Stage I: n=17 and Stage II: n=15). Median subject age was 3.4 months (14 days-4.2 years). Median weight was 5.9kg (2.6-15.4kg). Bedside HHE assessment of RV systolic function and TR severity had substantial agreement with SE (CCC=0.80, CCC=0.74, respectively; P<.001). HHE sensitivity and specificity for any grade of depressed RV systolic function were 100% and 92%, respectively, and were 94% and 88% for moderate or greater TR, respectively. Average HHE scan time was 238 seconds. HHE offers a rapid, bedside tool for pediatric cardiologists to detect RV systolic dysfunction and hemodynamically significant TR in HLHS.

Planned Concomitant Left and Right Ventricular Assist Device Insertion to Avoid Long-term Biventricular Mechanical Support: Bridge to Right Ventricular Recovery

The planned use of a temporary right ventricular assist device (RVAD) at the time of left ventricular assist device (LVAD) implantation may prevent the need for a permanent biventricular assist device (BiVAD). Herein we describe our RVAD weaning protocol that was effectively employed in 4 patients to prevent the need for permanent BiVAD. Four patients in refractory cardiogenic shock underwent planned RVAD insertion during LVAD implantation due to severely depressed right ventricular function with dilation preoperatively. A standardized RVAD weaning protocol was employed in these 4 patients in preparation for decannulation. Temporary RVADs were successfully placed in all 4 patients at the time of LVAD implantation. All patients survived to RVAD decannulation and discharge and were alive at the time of most recent follow-up (range, 528-742 days post-RVAD decannulation). Planned implantation of a temporary RVAD in high risk patients may avoid the need for biventricular mechanical support in the future.

Insuficiência cardíaca grave de etiologia amiloidótica

A amiloidose é uma doença sistêmica causada pela deposição extracelular de fibrilas insolúveis de proteínas de baixo peso molecular em diversos tecidos. Pode ser classificada nas formas: primária, secundária, hereditária e sistêmica senil. Relatamos o caso de um paciente masculino, 75 anos, que deu entrada em emergência cardiológica com quadro progressivo de edema em membros inferiores iniciado há quatro meses. Trinta dias antes do internamento passou a apresentar dispneia de médios para pequenos esforços, evoluindo para dispneia ao repouso e em decúbito (insuficiência cardíaca – classe funcional IV). Ao exame físico apresentou-se em estado geral regular, consciente, taquidispneico, afebril, hidratado, hipocorado (1+/4+), ictérico (2+/4+), acianótico e presença de estase jugular a 45°. O ritmo cardíaco era regular em dois tempos e bulhas, normofonéticas, com sopro sistólico em foco mitral (2+/6+) desdobramento fixo da segunda bulha; pressão arterial de 80x40 mmHg e frequência cardíaca de 84 bpm. O eletrocardiograma de admissão mostrou ritmo sinusal regular, bloqueio atrioventricular de 1º grau, baixa voltagem em derivações de plano frontal, zona eletricamente inativa em região ântero-septal e distúrbio de condução pelo ramo esquerdo do feixe de His. Radiografia de tórax com área cardíaca aumentada, padrão de congestão pulmonar e derrame pleural bilateral, mais acentuado à esquerda. Também foi realizado ecocardiograma transtorácico que evidenciou câmaras cardíacas aumentadas à direita, função sistólica de ventrículo direito levemente deprimida, insuficiência tricúspide moderada a importante, hipertensão pulmonar moderada, hipertrofia de ventrículo esquerdo, disfunção de ventrículo esquerdo e achado de ecogenicidade granular brilhante. Ultrassonografia de abdome mostrou fígado e baço com textura heterogênea, sugestivo de doença granulomatosa. Posteriormente foi realizada biópsia hepática que confirmou a hipótese de doença infiltrativa determinada pela amiloidose cardiovascular. Paciente evoluiu com rebaixamento de nível de consciência e insuficiência renal aguda, sendo realizada hemodiálise e transferência para Unidade Coronariana, onde apresentou parada cardiorrespiratória e evolução para óbito.

A Saudi Infant with Vici Syndrome: Case Report and Literature Review

INTRODUCTION:Vici syndrome, a rare autosomal recessive disorder, was first described in 1988 by Vici et al. Only 78 cases have been reported to date. The syndrome is characterised by agenesis of the corpus callosum, hypopigmentation, cardiomyopathy, progressive failure to thrive, dysmorphic features, immunodeficiency and cataracts. Mutations in the gene epg5 have been identified as the cause of Vici syndrome.CASE DESCRIPTION:The parents are a consanguineous Saudi couple with two other children diagnosed with Gaucher disease. The patient was born at term and in the first 5 months had many hospital admissions for a recurrent chest infection. Physical examination, investigations and imaging studies revealed that the patient had agenesis of the corpus callosum, cataracts, psychomotor delay, immunodeficiency and hypopigmentation. The initial echocardiogram was normal. At 7 months, genetic testing confirmed the diagnosis of Vici syndrome with a c.3693G>Ap (Gln1231Gln) mutation in the gene EPG5. The patient developed a chest infection and was admitted to the pediatric intensive care unit. An echocardiogram was repeated and showed significant left ventricular dilation with a Z-score of 3.1, moderate mitral and tricuspid regurgitation, and depressed ventricular function with a fractional shortening of 17% and ejection fraction 37%. The patient’s condition deteriorated, and he died aged 8 months.CONCLUSION:The symptoms of extensive system involvement in Vici syndrome have been present in the majority of reported cases and should prompt careful evaluation of this syndrome when such symptoms are present in an infant. In confirmed cases, close monitoring of the immune status and cardiac function, the two main causes of death among Vici syndrome patients, is vital to prevent rapid deterioration and improve life expectancy.

Identifying Non-invasive Tools to Distinguish Acute Myocarditis from Dilated Cardiomyopathy in Children.

There is often a diagnostic dilemma in pediatric patients presenting with depressed ventricular function, as myocarditis and dilated cardiomyopathy (DCM) of other etiologies can appear very similar. Accurate identification is critical to guide treatment and to provide families with the most accurate expectation of long-term outcomes. The objective of this study was to identify patterns of clinical presentation and to assess non-invasive measures to differentiate patients with acute myocarditis from other forms of DCM. We identified all children (< 18years) from our institution with a diagnosis of idiopathic DCM or myocarditis based on endomyocardial biopsy or explant pathology (1996-2015). Characteristics at the time of presentation were compared between patients with a definite diagnosis of myocarditis and those with idiopathic DCM. Data collected included clinical and laboratory data, radiography, echocardiography, and cardiac catheterization data. A total of 58 patients were included in the study; 46 (79%) with idiopathic DCM and 12 (21%) with acute myocarditis. Findings favoring a diagnosis of myocarditis included a history of fever (58 vs. 15%, p = 0.002), arrhythmia (17 vs. 0%, p = 0.003), higher degree of cardiac enzyme elevation, absence of left ventricular dilation (42 vs. 7%, p = 0.002), segmental wall motion abnormalities (58 vs. 13%, p = 0.001), lower left ventricular dimension z-score (3.7 vs. 5.2, p = 0.031), and less severe depression of left ventricular systolic function. There are notable differences between patients with myocarditis and other forms of DCM that can be detected non-invasively at the time of presentation without the need for endomyocardial biopsy. These data suggest that it may be possible to develop a predictive model to differentiate myocarditis from other forms of DCM using non-invasive measures.

Invited Commentary

Invited Commentary