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.

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.

Fibroelastosis endocárdica: descripción de un nuevo caso clínico desde atención primaria / Endocardial fibroelastosis: reporting a new case from the outpatient’s department

La fibroelastosis endocárdica es una causa reconocida, aunque poco frecuente, de muerte súbita infantil. Se trata de una enfermedad rara con un índice de mortalidad muy alto. Su presentación típica es la de una insuficiencia cardiaca global de rápida evolución o arritmias, que requiere un trasplante cardiaco. Se presenta el caso de una niña de 19 meses de edad que, tras un proceso afebril compatible con un cuadro de vías respiratorias altas de 24 horas de evolución, presenta un paro cardiorrespiratorio y es trasladada a un área básica de salud, falleciendo a las pocas horas de su ingreso en la unidad de cuidados intensivos a la que fue derivada posteriormente. En el estudio post mortem se hallaron cambios compatibles con una fibrosis laxa endocárdica(AU)

Endocardial fibroelastosis is a known but rare cause for sudden death in children. It is a rare disease with a high rate of mortality. Its usual presentation is similar to global cardiac insufficiency or arrhythmia leading to heart transplantation. We report the case of a 19-month old female who, after having 24 hours of a non feverish upper respiratory infection, went into cardiac arrest and was taken to the outpatient's department, but died a few hours later in the intensive care unit. In post-mortem studies evidence of endocardial fibrosis laxa was found(AU)

Durability of mitral valve repair in Barlow disease versus fibroelastic deficiency.

OBJECTIVE: Durability assessment of mitral valve repair for degenerative valve incompetence is limited to reoperation as a primary indicator and valve-related risk factors for late death as a secondary indicator. We assessed serial echocardiographic follow-up of valve function as an indicator of the durability of mitral valve repair. METHODS AND RESULTS: In 348 patients having undergone mitral valve repair for degenerative valve incompetence, clinical outcome was excellent: 10 years after repair, survival was 80.1% and freedom from reoperation 94.4%. However, freedom from mitral regurgitation (>2/4), 98.7% at 1 month, decreased to 82.2% at 5 years and 64.9% at 10 years. The linearized recurrence rate of mitral regurgitation (>2/4) was 3.2% per year. Recurrence rate was higher in patients with Barlow disease (6.0%) and lower in those with fibroelastic deficiency (2.6%) (P = .01). Performing chordal shortening, the nonuse of sliding plasty and the nonuse of an annuloplasty ring were determined to be factors predicting recurrence of mitral regurgitation. In reconstructions avoiding these risk factors, recurrence rate decreased to 2.4%. There was no difference between Barlow disease and fibroelastic deficiency: 2.9% versus 2.2% (P > .05). Recurrent regurgitation is characterized by leaflet prolapse, thickening, and calcification. CONCLUSION: When optimal surgical techniques are used, the residual recurrence rate of mitral valve regurgitation remains between 2% and 3% per year and is related to progressive degeneration of the chordae and the leaflets. Long-term results of mitral valve repair in Barlow disease are essentially the same as in fibroelastic deficiency.

Fibroelastosis subendocardica: informe de dos casos / Subendocardica fibroelastosis

Se presentan los casos de dos pacientes menores de un año, de ambos sexos, asistidos en el Hospital Pediátrico Pedro Agustín Pérez de Guantánamo, con diagnóstico presuntivo al ingreso de bronquiolitis ligera. Luego de diagnóstico clínico se plantea miocarditis viral o fibroelastosis, corroborado por radiología de tórax y confirmado post mortem. Se hace revisión actualizada sobre el tema, se enfatiza en la alta mortalidad de la misma (AU)

Maternal anti-Ro and anti-La antibody-associated endocardial fibroelastosis.

BACKGROUND: Maternal anti-Ro and anti-La antibodies are associated with congenital heart block (CHB). Although endocardial fibroelastosis (EFE) has been described in isolated cases of autoantibody-mediated CHB, the natural history and pathogenesis of this disease are poorly understood. METHODS AND RESULTS: We retrospectively reviewed the clinical history, echocardiography, and pathology of fetuses and children with EFE associated with CHB born to mothers positive for anti-Ro or anti-La antibodies at 5 centers. Thirteen patients were identified, 6 with a prenatal and 7 with a postnatal diagnosis. Six mothers were positive for anti-Ro and anti-La antibodies, and 7 were positive for anti-Ro antibodies only. Only 1 mother had autoimmune disease. Severe ventricular dysfunction was seen in all fetal and postnatal cases. Four fetal and 3 postnatal cases had EFE at initial presentation. However, 2 fetal and 4 postnatal cases developed EFE 6 to 12 weeks and 7 months to 5 years from CHB diagnosis, respectively, even despite ventricular pacing in 6 postnatal cases. Eleven (85%) either died (n=9) or underwent cardiac transplantation (n=2) secondary to the EFE. Pathologic assessment of the explanted heart, available in 10 cases, revealed moderate to severe EFE in 7 and mild EFE in 3 cases, predominantly involving the left ventricle. Immunohistochemistry in 4 cases (including 3 fetuses) demonstrated deposition of IgG in 4 and IgM in 3 and T-cell infiltrates in 3 cases, suggesting an immune response by the affected fetus or child. CONCLUSIONS: EFE occurs in the presence of autoantibody-mediated CHB despite adequate ventricular pacing. Autoantibody-associated EFE has a very high mortality rate, whether developing in fetal or postnatal life.

Secondary endocardial fibroelastosis associated with Pompe disease and multicystic dysplastic kidney.

An infant with secondary endocardial fibroelastosis (EFE) associated with glycogen storage disease II (Pompe disease) and multicystic dysplastic kidney (MCDK) is described. She had had refractory heart and renal failure from the early neonatal period. In spite of administration of cathecholamines and diuretics, ventilator support, and peritoneal dialysis, her heart failure due to reduction of left ventricular contractility progressively worsened. She died on the 40th day after admission. Histological examination of a left ventricular autopsy specimen showed prominent thickening of the endocardium due to fibroelastosis, and a lacework-like structure due to accumulation of glycogen in the cardiomyocytes. The EFE was derived from degeneration of the smooth muscle in the endocardium and cardiomyocytes due to glycogen storage. In addition, we supposed that the renal failure due to MCDK made the preload for the ventricles increase and accelerated her heart failure.

Natural history and prognostic risk factors in endocardial fibroelastosis.

A retrospective study was made of 52 patients (16 men, 36 women) with endocardial fibroelastosis diagnosed by strict clinical criteria and confirmed histologically in 18 (35%). Clinical and hemodynamic manifestations at presentation were reviewed from the clinical record. The follow-up period averaged 47 months (range 1 day to 228 months). Actuarial survival rates were 93% at 6 months, 83% at 1 year and 77% at 4 years. Clinical and hemodynamic manifestation included onset at less than 1 year of age (89%), respiratory distress (71%), cardiomegaly on chest roentgenogram (99%), left ventricular hypertrophy with ST-T-wave changes on the electrocardiogram (97%) and reduced contractility with dilatation of the left ventricle (100%). Prognostic risk factors were evaluated comparing 13 patients who died (group 1) with 16 patients who survived greater than 4 years (group 2). Only cardiac index (2.8 +/- 0.8 vs 3.5 +/- 0.5 liter/min/m2) and ejection fraction (18 +/- 12 vs 33 +/- 21%) measured at catheterization were significantly reduced in group 1 compared with group 2 (p less than 0.005 and p less than 0.01, respectively). Careful observation and appropriate management are recommended in all patients, although low ejection fraction and cardiac output at presentation are predictive of poor outcome and support other therapeutic alternatives.

Reduced left ventricular size and endocardial fibroelastosis as correlates of mortality in newborns and young infants with severe aortic valve stenosis.

30 patients with severe aortic valve stenosis presented in severe congestive heart failure within the first 2 months of life. In 25 of them, left ventricular volume and contractility were assessed; five of them had a left ventricle of normal size, in 11 left ventricular size was diminished, and in nine patients it was enlarged. Eleven of the infants had extensive endocardial fibroelastosis (EFE) evidenced angiographically by myocardial sinusoids in ten of them and established at autopsy in six. The presence of EFE correlated with the size of the left ventricle; eight of 11 with a small left ventricle, two of five with a normal-sized left ventricle, and one of nine with an enlarged left ventricle displayed EFE. The severe depression of left ventricular function associated with EFE was documented by left ventricular volume determinations on exclusion of the myocardial sinusoids. Of 30 patients, 12 (including eight of 26 who underwent surgery) did not survive. Mortality, severity, and early onset of symptoms were associated mainly with small size of the left ventricle and with the severe left ventricular dysfunction associated with EFE.

Endocardial fibrosis in apparently normal infant hearts.

A classification of the histological appearance of the endocardium in infants, and observers' reproducibility tests have been carried out. In a retrospective survey of 262 overtly normal hearts, what is considered to be abnormal thickening of the endocardium was found in 3.4%, and probably significant thickening in 20%. The changes occurred in unexpected home deaths as well as in hospital deaths and the lesions may be a contributing factor in some cot deaths, but a prospective study is required to confirm this.

Cardiovascular malformation in infant deaths. 10-year clinical and epidemiological study.

The infant mortality from cardiovascular malformations in a region with a population of 2 million inhabitants during a 10-year period has been studied. The study involved validation of the diagnoses and judgement whether the cardiovascular malformation was the dominating or a contributing cause of death. It is shown that the incidence of fatal cardiovascular malformations is probably overestimated in the official death statistics. Evaluation of the clinical findings and necropsy reports are important aids in obtaining more reliable figures of the incidence. The rate of referral of infants with cardiovascular malformations has increased during the period of this study, so that the number of operable lesions not referred has decreased. The infant mortality rate, found in this study, of 1.33 per 1000 liveborn babies constitutes about 20 per cent of all liveborn infants with cardiovascular malformations. The most common lesions found in those who died belonged to the group constituting the hypoplastic left heart syndrome. The proportion of this type of malformation, about 20 per cent of all those dying, is higher than in other similar studies. This difference can probably be explained by variations in selection and classification.

Estudio clínico y anatomopatológico de 19 casos de fibroelastosis endocardíaca / A clinical and anatomo-pathological study on 19 cases of endocardial fibroelastosis

Se hace el estudio clínico y anatomopatológico de 19 pacientes con F.E. necropsiados en el Hospital Pediátrico Provincial. Se atiende una breve revisión bibliográfica de la entidad; se establece una relación comparativa entre los hallazgos de nuestra casuística y los de otros autores, entre ellos, cubanos(AU)