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.

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.

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.

[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.

Fetal echocardiographic assessment of endocardial fibroelastosis in maternal anti-SSA antibody-associated complete heart block.

BACKGROUND: There are few reports describing the features of maternal anti-SSA antibody-associated congenital complete heart block (CCHB) patients developing endocardial fibroelastosis (EFE). The aim of this study was to describe the clinical features and the outcome of patients with CCHB, with or without EFE. METHODS AND RESULTS: Over a 20-year period, 12 consecutive patients diagnosed with maternal anti-SSA antibody-associated CCHB were identified. The maternal anti-SSA antibody levels were measured and fetal echocardiographic findings were reviewed. The ratios of the thickness of the endocardium to that of the whole wall of the left ventricle (LE/W) and right ventricle (RE/W) were measured to investigate the degree of endocardial thickening. A total of 7 patients survived (living group) and were not diagnosed as having EFE. The remaining 5 patients died and were diagnosed with EFE during autopsy (dead group). Fetal echocardiography of the patients showed differences in the thickening and hyperintensity of the endocardium. The RE/W value was significantly higher in the dead group than in the living group. The titers of both maternal anti-52-kDa and anti-60-kDa SSA antibodies were high, but showed no significant differences between the 2 patient groups. CONCLUSIONS: EFE was the major negative prognostic factor for CCHB. Myocardial damage, predominantly in the right ventricle, was related to the outcome of CCHB associated with EFE.

Endocardial fibroelastosis of the right ventricle and tricuspid valve in a young adult with Behcet's disease.

Endocardial fibroelastosis is characterized by massive proliferation of collagenous and elastic tissue, in which the pathological process is restricted to the endocardium. In this report, we present the case of a 20-year-old man with Behcet's disease and endocardial fibroelastosis of the right ventricle involving tricuspid valve resulting in a tumor mass that was resected along with tricuspid valve replacement. The clinical and pathological features of this rare entity are reviewed.

Changing concepts of endocardial fibroelastosis.

Endocardial fibroelastosis is not a disease but a reaction of the endocardium. I review the history of the term with emphasis on the gradual understanding of the many causes of this reaction. I include a comprehensive list of diseases or other cardiac stresses that authors have reported in association, and I try to explain the mechanism of the reaction. Although endocardial fibroelastosis is rare today, I issue a warning of a possible epidemic recrudescence of some of the associated diseases. My hope is for nosologic purity, therefore that outworn but surviving concepts will be firmly rejected.

Echocardiographic evaluation of fetal cardiac function: clinical and anatomical correlations in two cases of endocardial fibroelastosis.

BACKGROUND: Two fetuses with endocardial fibroelastosis, one with critical aortic stenosis and one with high-output cardiac failure due to chorioangiomatosis, are presented to evaluate the correlation between Doppler echocardiographic findings, the fetal clinical condition and the anatomical substrate found at postmortem. METHODS: Doppler measurements of cardiac function (systolic, diastolic and global) and a cardiovascular score incorporating five parameters of fetal well-being were recorded. RESULTS: In the fetus with critical aortic stenosis, the cardiovascular score was diminished, there was no hydrops, the systolic and global cardiac function indices were within normal limits but the diastolic function indices were abnormal. The fetus with high-output cardiac failure was hydropic, the cardiovascular score was diminished and abnormal Doppler indices of systolic, diastolic and global cardiac function were found. In both fetuses, abnormalities in the measured Doppler parameters were found consistent with clinical cardiac dysfunction and the postmortem findings. CONCLUSION: Recognition of abnormal diastolic function Doppler indices may assist in earlier identification of fetal cardiac compromise.

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.

Outcomes of mitral valve repair for mitral regurgitation due to degenerative disease.

The aim of this study was to review the clinical and echocardiographic outcomes after mitral valve repair for mitral regurgitation due to degenerative disease of the mitral valve. A total of 649 consecutive patients who had isolated mitral valve repair were prospectively followed up for 6.8 +/- 3.1 years. The mean age was 58 +/- 11 years. The operative mortality rate was 0.6%; the late mortality rate was 14.6%; and survival at 15 years was 67 +/- 5%. Age by increments of 5 years, advanced functional class, and impaired left ventricular function were independent predictors of late death. The freedom from reoperation on the mitral valve at 15 years was 92 +/- 3%, and the freedom from late, recurrent, severe mitral regurgitation was 85 +/- 4%. Most patients were in functional classes I or II at the latest follow-up contact. Mitral valve repair is associated with low operative mortality and morbidity, but it does not arrest the degenerative process. This study suggests that rates of reoperation underscore rates of late failure of the mitral valve repair.

[Papillary fibroelastoma which occurred from the posterior leaflet of the mitral valve; report of a case].

Papillary fibroelastoma is a rare benign tumor arising from the cardiac endothelium. In this report, we describe the surgical treatment for mitral valve papillary fibroelastoma with hypothyroidism. A 69-year-old woman was admitted to our hospital for the treatment of cardiac tamponade. Echocardiography revealed massive pericardial effusion and a small tumor attached to the posterior mitral leaflet. We drainaged the pericardial effusion, and found that the cause of pericardial effusion was hypothyroidism. After controling the thyroid function, open heart surgery was performed. We excised the tumor including a part of the posterior mitral leaflet, and mitral valve plasty was done. Both the surgical and histological findings showed papillary fibroelastoma, and the postoperative course was uneventful. To avoid embolic complications, early surgical intervention is recommended.

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.

Left heart growth, function, and reintervention after balloon aortic valvuloplasty for neonatal aortic stenosis.

BACKGROUND: Transcatheter balloon aortic valvuloplasty (BAVP) has become the first-line treatment for critical aortic stenosis (AS) in neonates. However, little is known about the growth and function of left heart structures or about patterns of reintervention on the left heart after neonatal BAVP. METHODS AND RESULTS: Between 1985 and 2002, 113 patients underwent neonatal BAVP at < or =60 days of age. There were 16 early deaths (14%), with a significant decrease from 1985 to 1993 (22%) to 1994 to 2002 (4%), and 6 patients had successful early conversion to a univentricular circulation. In the short term, the mean relative gradient reduction was 54+/-26%, and significant aortic regurgitation (AR) developed in 15% of patients. The 91 early survivors with a biventricular circulation were followed up for 6.3+/-5.3 years, during which time there was a steady increase in the frequency of significant AR. Freedom from moderate or severe AR was 65% at 5 years. In almost all patients with a baseline aortic annulus z score less than -1, the annulus diameter increased to within the normal range within 1 to 2 years. Similarly, left ventricular (LV) end-diastolic dimension z scores, which ranged from -5 to 7.5 before BAVP, normalized within 1 to 2 years in nearly all patients with a predilation z score less than -1. Among early survivors with a biventricular circulation, reintervention-free survival on the LV outflow tract was 65% at 1 year and 48% at 5 years, with younger age, higher pre- and post-BAVP gradients, and a larger balloon-annulus diameter ratio associated with decreased reintervention-free survival (P<0.01). Seventeen surgical interventions were performed on the aortic valve in 15 patients, including replacement in 7. Survival free from aortic valve replacement was 84% at 5 years. CONCLUSIONS: BAVP for AS during the first 60 days of life results in short-term relief of AS in the majority of patients. Among early survivors, initially small left heart structures may be associated with worse subacute outcomes but typically normalize within 1 year. Reintervention for residual/recurrent AS or iatrogenic AR is relatively common, particularly during the first year after BAVP, but aortic valve replacement during early childhood is seldom necessary.

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.

Fetal Doppler echocardiographic diagnosis and successful steroid therapy of Luciani-Wenckebach phenomenon and endocardial fibroelastosis related to maternal anti-Ro and anti-La antibodies.

BACKGROUND: Complete fetal heart block (HB) and endocardial fibroelastosis (EFE) are known to be associated with maternal anti-Ro and anti-La antibodies. Complete fetal HB is irreversible. OBJECTIVES: We sought to (1) assess the value of the superior vena cava/ascending aorta Doppler approach in the early detection of abnormal delay in the fetal atrioventricular (AV) time of conduction, before appearance of complete fetal HB; and (2) report the effect of prenatal steroid therapy on EFE, HB, or both. RESULTS: The clinical history, echocardiographic, and Doppler investigations of 3 fetuses and children born to mothers positive for anti-Ro and anti-La antibodies are reported. Two fetuses presented with EFE either isolated (29 weeks) or associated with AV block (25 weeks). In this last case, the superior vena cava/ascending aorta approach allowed the identification of a Luciani-Wenckebach phenomenon. In a third fetus, 2:1 AV block was noted at 23 weeks of gestation. Dexamethasone (4 mg/day) was administered to all 3 patients. Complete regression of the EFE and conduction abnormalities was documented in all cases. CONCLUSION: Early prenatal detection of abnormal delay in fetal AV time conduction is possible with the Doppler superior vena cava/ascending aorta approach. Steroid therapy can cure fetal EFE and AV conduction delays associated with maternal anti-Ro and anti-La antibodies.