Patterns of endocardial fibroelastosis without atrioventricular block in fetuses exposed to anti-Ro/SSA antibodies.

Anti-Ro/SSA-antibody-mediated endocardial fibroelastosis (EFE) without atrioventricular (AV) block at presentation is a rare cardiac phenotype. We report on 11 fetuses with this rare type of anti-Ro/SSA-antibody-mediated cardiac involvement, presenting with a distinctive echocardiographic pattern of EFE. Eleven fetuses with isolated EFE at presentation were included from four cardiac centers, and experienced fetal cardiologists reached a consensus regarding EFE location on echocardiography at presentation. Interval changes to subsequent fetal and postnatal echocardiograms were assessed to evaluate response to therapy. Echocardiographic markers of cardiac performance, including diastolic function and AV conduction, were reviewed. Ten fetuses were found to have EFE of the aortic root, proximal aorta and/or left ventricular outflow tract. In the same 10 cases, EFE of the pulmonary root, pulmonary artery and/or right ventricular outflow tract was identified. Six cases had atrial EFE and six had EFE of the crux. Four cases were known to be positive for anti-Ro/SSA antibodies prior to diagnosis, whereas, in the remaining seven, echocardiographic findings prompted testing, which was positive in all cases. The AV interval at presentation was normal in all cases, but one fetus subsequently developed AV block. Nine patients were treated with transplacental dexamethasone, five of which also received intravenous immunoglobulin (IVIG), and one received IVIG only. Of the 10 treated cases, six had improvement in EFE as shown by serial imaging and, in four cases, the severity was unchanged. All patients were liveborn. In our cohort, EFE of the aortic and pulmonary arteries and outflow tracts was nearly universal, and involvement of the atria and the crux of the heart was also common. The high survival rate and low burden of AV block are also suggestive of a distinct phenotype of anti-Ro/SSA-antibody-mediated cardiac disease with a favorable prognosis. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.

Prognostic Value of Global Longitudinal Strain and Etiology After Surgery for Primary Mitral Regurgitation.

OBJECTIVES: This study sought to investigate whether left ventricular (LV) global longitudinal strain (GLS) is associated with long-term outcome after mitral valve (MV) surgery for primary mitral regurgitation (MR) and assess the differences in outcome according to MR etiology: Barlow's disease (BD), fibroelastic deficiency (FED), and forme fruste (FF). BACKGROUND: Appropriate timing of MV surgery for primary MR is still challenging and may differ according to the etiology. In these patients, LV-GLS has been proposed as more sensitive measure to detect subtle LV dysfunction as compared with LV ejection fraction. METHODS: Echocardiography was performed in 593 patients (64% men, age 65 ± 12 years) with severe primary MR who underwent MV surgery, including assessment of LV-GLS. The etiology (BD, FED, or FF) was defined based on surgical observation. During follow-up, primary endpoint was all-cause mortality and a secondary endpoint included cardiovascular death, heart failure hospitalizations, and cerebrovascular accidents. RESULTS: During a median follow-up of 6.4 (interquartile range: 3.6 to 10.4) years, 146 patients died (16 within 30 days after surgery), 46 patients were hospitalized for heart failure, and 13 patients had a cerebrovascular accident. Age (hazard ratio [HR]: 1.08; 95% confidence interval [CI]: 1.05 to 1.11; p < 0.001) and LV-GLS (HR: 1.13; 95% CI: 1.06 to 1.21; p < 0.001) were independently associated with all-cause mortality. Patients with LV-GLS >-20.6% (more impaired) showed significant worse survival than did patients with LV-GLS ≤-20.6%; of interest, patients with BD showed similar prognosis compared with FED and FF. In addition, previous atrial fibrillation (HR: 1.70; 95% CI: 1.01 to 2.86; p = 0.045) and LV-GLS (HR: 1.01; 95% CI: 1.01 to 1.15; p = 0.019) were independently associated with the secondary endpoint. CONCLUSIONS: LV-GLS is independently associated with all-cause mortality and cardiovascular events after MV surgery for primary MR and might be helpful to guide surgical timing. Importantly, patients with BD showed similar prognosis when corrected for age, compared with patients with FED or FF.

Flow disturbances and progression of endocardial fibroelastosis - a case report.

Endocardial fibroelastosis (EFE) is described as thickening of the endocardium and is associated with hypoplastic left heart syndrome (HLHS). The stimulus for EFE and the mechanism for recurrence and/or progression need to be investigated. In this report, we describe the case of a 4-year-old HLHS patient who underwent several surgeries with EFE resections due to recurrence of EFE. EFE recurrence was associated with flow disturbances due to valvar defects. At her latest follow-up 7 months after the last surgery, competent valves and no EFE were identified on all imaging study.

Dilated cardiomyopathy with endocardial fibroelastosis in a juvenile Pallas cat.

Dilated cardiomyopathy (DCM) is a myocardial disease characterized by ventricular chamber dilation associated with systolic myocardial dysfunction in the absence of other cardiac lesions. DCM occasionally develops in conjunction with proliferation of fibroelastic fibers in the endocardium, producing endocardial fibroelastosis (EFE). Although early reports describe EFE as a primary disease, evidence now suggests that EFE may develop as a response to myocardial dysfunction. Echocardiographic evaluation of a 4-wk-old Pallas cat ( Otocolobus manul) with respiratory distress revealed enlargement of both atria, enlarged end-systolic left ventricular dimension, and left ventricular dilation. DCM was diagnosed, and the cat was euthanized, given the poor prognosis. Postmortem examination revealed pericardial effusion and biventricular and biatrial enlargement. The interventricular septum and free walls of ventricles were thin. Histologically, the endocardium of the left and right ventricles was diffusely thickened; Verhoeff-Van Gieson staining of the left ventricular endocardium revealed a moderate amount of endocardial accumulation of elastin and collagen. These fibers were more prominent in papillary muscles and around coronary blood vessels. Based on these findings, we diagnosed DCM with EFE. Cardiac diseases are rarely diagnosed in wild felids.

Endocardial fibroelastosis in two related tiger cubs (Panthera tigris).

Two tiger cubs (Panthera tigris) from the same litter were evaluated for suspected cardiac disease. Two cubs with a dilated cardiomyopathy phenotype were diagnosed with endocardial fibroelastosis based on necropsy and histopathologic examinations. Echocardiography revealed salient anatomic and functional aspects of this cardiac disorder. This is the first report of endocardial fibroelastosis in this species.

Sudden cardiac death in isolated right ventricular hypertrabeculation/noncompaction cardiomyopathy.

Hypertrabeculation/noncompaction of the myocardium is a rare disorder that involves most commonly the left ventricle of the heart and it has been recognized as a distinct cardiomyopathy by the World Health Organization. However, it is extremely rare for this condition to involve exclusively the right ventricle. We report the cases of three patients who presented with ventricular tachyarrhythmia and sudden cardiac death. They were found to have isolated right ventricular hypertrabeculation/noncompaction on echocardiography. This supports the hypothesis that this condition is highly arrhythmogenic and is associated with high mortality similarly to the left ventricular hypertrabeculation/noncompaction cardiomyopathy.

A case of cardioembolic stroke due to intracardiac papillary fibroelastoma evaluated by using transesophageal echocardiography.

A 62-year-old woman had a prior ischemic stroke in the right temporal lobe with dysarthria and dysesthesia of the left hand. Embolic stroke of undetermined source (ESUS) was diagnosed and warfarin was administered. However, transient ischemic attack recurred upon admission to our hospital. Paroxysmal atrial fibrillation and cerebral arterial stenotic lesions were absent. Transesophageal echocardiography revealed a mobile hyperechoic structure on the aortic valve indicating papillary fibroelastoma. She was diagnosed with a brain embolism due to the intracardiac tumor which was surgically excised and pathologically confirmed as papillary fibroelastoma. This type of tumor is relatively rare but it is important as an embolic source especially in ESUS. Transesophageal echocardiography was indispensable for detecting the embolic source in this patient with ESUS.

Approach an appropriate decision on fetus with endocardial fibroelastosis in collaboration with cardiovascular profile score: A case report.

INTRODUCTION: Fetal endocardial fibroelastosis (EFE) is a kind of rare fetal cardiac malformation characterized by the diffuse thickening of the ventricular endocardium. The diagnosis of fetal EFE depends on the echocardiographic features which are still confused that how to make an appropriate pregnant decision due to the conflict between high prenatal mortality and acceptable prognosis once after birth. Here, we seriously built a 4-gradation recommendation system based on cardiovascular profile score (CVPS) to supply a prediction of clarified pregnant outcomes with EFE and provide a practical way to offer optimal medical consultation. CLINICAL PROCEDURE: A suspected case of fetal EFE has been aware at 24th gestational week by fetal echocardiography. The CVPS of this affected fetus dropped to 6 out of 10 points, which indicated a severe heart condition along with the fetus and predicted an adverse fetal prognosis according to our recommendation system. After fully informed consent, the prospective parents determined to terminate pregnancy. Following the induced abortion, postmortem pathological findings confirmed the echocardiographic suspicion of EFE. CONCLUSION: According to our experience and previous researches, we could reach a relative clear prediction of the outcomes of the EFE fetuses based on the CVPS of such suspected fetuses, which should lead to approach an appropriate pregnant decision for such fetuses.

A mouse model of endocardial fibroelastosis.

BACKGROUND: Endocardial fibroelastosis (EFE) is a pathologic condition of abnormal deposition of collagen and elastin within the endocardium of the heart. It is seen in conjunction with a variety of diseases including hypoplastic left heart syndrome and viral endocarditis. While an experimental model using heterotopic heart transplant in rats has been described, we sought to fully describe a mouse model that can be used to further elucidate the potential mechanisms of and treatments for EFE. MATERIALS AND METHODS: The hearts of 2-day-old C57BL/6 mice were transplanted into the abdomen of 7-week-old C57BL/6 mice. At 2 weeks, the hearts were harvested and histologic analysis was performed using hematoxylin and eosin, Masson's trichrome, Russell-Movat's pentachrome, Picrosirius red, Hart's, Verhoeff-Van Gieson, and Weigert's Resorcin-Fuchsin stains. Additionally, one heart was analyzed using transmission electron microscopy (TEM). RESULTS: Specimens demonstrated abnormal accumulation of both collagen and elastin within the endocardium with occasional expansion into the myocardium. Heterogeneity in extracellular matrix deposition was noted in the histologic specimens. In addition, TEM demonstrated the presence of excess collagen within the endocardium. CONCLUSIONS: The heterotopic transplantation of an immature heart into a mouse results in changes consistent with EFE. This model is appropriate to investigate the etiology and treatment of EFE.

[Prenatal diagnosis of fetal aortic stenosis with mitral insufficiency. Review of the ultrasound diagnosis and perinatal prognosis: a case report]. / Diagnóstico prenatal de la estenosis aórtica crítica con insuficiencia mitral. Revisión del diagnóstico ecográfico y pronóstico perinatal. A propósito de un caso.

This is a report about a case of prenatal diagnosis of critical fetal aortic stenosis with severe mitral valve insufficiency in a 35+6 weeks fetus. Aortic stenosis represents 3% of congenital heart diseases, but its association with mitral regurgitation is quite unusual. Thanks to the latest advances in fetal ultrasonography we can now achieve a more precise diagnosis and we have been able to improve the understanding of its physiopathology. Based on this case we have reviewed the most recent literature about fetal aortic stenosis and mitral valve insufficiency, with the aim of summarizing its main physiopathological features, highlighting the clues and key points for its intrauterine diagnosis, describing its principal complications and summarizing its current treatment options.

Prenatal assessment of ventriculocoronary connections and ventricular endocardial fibroelastosis in hypoplastic left heart.

OBJECTIVE: The outlook for newborns with hypoplastic left heart (HLH) has substantially improved over the last decade. However, differences in outcome among various anatomical subgroups have been described. We aimed to describe the incidence of ventriculocoronary communications and endocardial fibroelastosis in HLH and the possible implication on hospital survival (30 d). METHODS: We retrospectively reviewed our medical records, still frames and video loops of 72 fetuses with HLH and critical aortic valve stenosis and evolving HLH from 2008 - 2013. The presence of VCAC and EFE were systematically assessed. Outcome parameters were incidence of VCAC and EFE among different anatomical subgroups of HLH and hospital survival (30 d). RESULTS: 72 fetuses were included in this series. The incidence of VCAC was 11.1 % (8 cases) and EFE occurred in 33.3 % (24 cases). 5 fetuses with VCAC occurred in the subgroup of mitral valve stenosis/aortic valve atresia (MS/AA, 62.5 %) and 2 fetuses with VCAC occurred in the group of mitral atresia/aortic valve atresia (MA/AA, 25 %). Further classification was not possible in one case with VCAC (12.5 %). EFE predominantly occurred in the subgroup of MS/AA, MA/AA and in those cases with aortic valve stenosis and evolving HLH. The overall hospital survival on an intention-to-treat basis was 91.2 % (52/57 newborns). Hospital survival was 91 % for the subgroup of cases with MS/AA and for all other anatomical subgroups. CONCLUSION: The presence of VCAC in HLH can be diagnosed by fetal echocardiography predominantly occurring in cases with obstructed outflow and to some extent patent mitral valve. EFE is a frequent coexisting finding. Hospital survival was comparable among different anatomical subgroups and in cases with VCAC. The presence of VCAC in HLH did not limit the results of surgical palliation within the observation period of 30 days.

Left ventricular diastolic function and characteristics in fetal aortic stenosis.

Fetal aortic balloon valvuloplasty (FAV) has shown promise in averting progression of midgestation aortic stenosis (AS) to hypoplastic left heart syndrome in a subset of patients. Patients who achieve biventricular circulation after FAV frequently have left ventricular (LV) diastolic dysfunction (DD). This study evaluates DD in fetuses with AS by comparing echocardiographic indices of LV diastolic function in fetuses underwent FAV (n = 20) with controls (n = 40) and evaluates for LV factors associated with DD in patients with FAV. We also compared pre-FAV and post-FAV DD variables (n = 16). Median gestational age (24 weeks, range 18 to 29 weeks) and fetal heart rate were similar between FAV and controls. Compared with controls, patients with FAV had universally abnormal LV diastolic parameters including fused mitral inflow E and A waves (p = 0.008), higher E velocity (p <0.001), shorter mitral inflow time (p = 0.001), lower LV lateral annulus E' (p <0.001), septal E' (p = 0.003), and higher E/E' (p <0.001) than controls. Patients with FAV had abnormal right ventricular mechanics with higher tricuspid inflow E velocity (p <0.001) and shorter tricuspid inflow time (p = 0.03). Worse LV diastolic function (lower LV E') was associated with higher endocardial fibroelastosis grade (r = 0.74, p <0.001), large LV volume (r = 0.55, p = 0.013), and sphericity (r = 0.58, p = 0.009) and with lower LV pressure by mitral regurgitation jet (r = -0.68, p <0.001). Post-FAV, fewer patients had fused mitral inflow E and A than pre-FAV (p = 0.05) and septal E' was higher (=0.04). In conclusion, fetuses with midgestation AS have evidence of marked DD. Worse DD is associated with larger, more spherical LV, with more extensive endocardial fibroelastosis and lower LV pressure.