Vlasta Fesslova

Fetal echocardiography at the time of the nuchal translucency scan

The fetal heart is not studied routinely in the first trimester because of technical and time limitations. Our aim was to assess the feasibility of performing a fetal cardiac study in pregnancies referred for nuchal translucency (NT) screening, using high‐frequency linear transabdominal transducers with a specific ultrasound preset.

The natural course and the impact of therapies of cardiac involvement in the mucopolysaccharidoses

OBJECTIVE To analyze cardiac involvement and its progression in mucopolysaccharidoses, and to assess the short term impact of new therapeutic strategies. PATIENTS AND METHODS We studied echocardiographically 57 patients with various types of mucopolysaccharidoses, specifically types I, II, III, IV and VI, with a median age at the diagnosis of cardiac involvement of 5 years, following them for a median of 4.6 years, with a range from 0.9 to 21.2 years. We used a scoring system, along with the so-called delta score, to quantify the severity of involvement at baseline and at last examination, and to chart their progression over time. RESULTS Cases with cardiac involvement increased from 59.6% to 87.3% at the last examination. The scores increased with age, and were significantly different according to the specific type of mucopolysaccharidosis. Involvement of the mitral valve was most common, often associated with an aortic valvar anomaly and/or left ventricular hypertrophy. Patients with the first and second types had more severe involvement than those with the third or fourth types. Patients undergoing transplantation of haematopoietic stem cells seem to stabilize after an initial worsening while, in contrast, we were unable to demonstrate an effect of enzyme replacement therapy on the progression of the cardiac disease, possibly because those receiving such treatment had a higher median age, more severe cardiac disease and shorter follow-up. CONCLUSIONS Cardiac involvement was present early in more than a half of the patients identified as having mucopolysaccharidosis, and generally progressed, being more frequent and severe in the first and second types of the disease. Longer follow-up is needed to demonstrate any significant improvement induced by new therapies.

Transcatheter closure of congenital ventricular septal defects in adult : Mid-term results and complications

INTRODUCTION Transcatheter treatment of congenital heart defects in adult patients is dramatically changing the way in which this population is being treated. This report outlines mid-term follow-up results and complications in adult patients that underwent transcatheter VSD closure. METHODS The data of 40 adult patients who underwent transcatheter closure of a VSD at our institution were collected prospectively between January 2000 and June 2006. The inclusion criteria for this study were clinical and/or echocardiographic evidence of a significant left-to-right shunt through a muscular VSD (mVSD) or a perimembranous VSD (pVSD). A shunt was considered significant when the following were found: (i) left atrial enlargement, defined as a left atrial-to-aortic ratio >1.5; (ii) left ventricular enlargement (left ventricular overload), defined as a left ventricular end-diastolic diameter >+2 standard deviation (SD) above the mean for the patients age. Another inclusion criterion was a previous episode of endocarditis. RESULTS 41 procedures were carried out in 40 patients; a mVSD-O was used in 22 patients and a pVSD-O in 18 patients (1 patient had two devices inserted). No deaths occurred; no procedure was aborted. A total of 6 (14.6%) complications occurred. The most frequent complication was a rhythm abnormality (n=4). No device embolization occurred. The median follow-up duration was 36 months (range: 6-81 months). No deaths or cases of endocarditis occurred. One patient who had two devices implanted because of a residual defect after a tetralogy of Fallot repair, had to be operated again 3 months after the second device implantation because of a persistent significant residual leak. CONCLUSIONS Greater experience, possibly of multicentre trials and long-term follow-up are required to better assess the safety and effectiveness of this procedure as an alternative to surgical approaches in adult patients.

Recommendations for the practice of fetal cardiology in Europe.

F ETAL CARDlOLOGY IS CURRENTLY PRACTISED IN of rhythm. An early accurate diagnosis will make most European countries, blit even within possible parental choice, as well as providing the countries there is a great variation in the service opportunity to plan the delivery and postnatal provided. The recommendations provided in this management so as to optimize the outcome, document are intended to be guide for all paediatric Support can also be provided to specialists in fetal cardiologists undertaking fetal echocardiography with medicine, and to obstetricians, in the management the view of providing a service in fetal cardiology. It is of fetuses with functional disturbances, as in tWinclear that the health and legal systems vary from counto-tWin transfusion syndrome try to country, so that not all aspects of these recomb. To provide appropriate counselling and support mendations Can be implemented in all countries, The for parents and families following prenatal recommendations, nonetheless, provide a framework diagnosis l that can be adapted to fit in with local situations, c, To communicate results to the referring obstetri-

Recurrence of congenital heart disease in cases with familial risk screened prenatally by echocardiography.

Objectives. To evaluate the recurrence of congenital heart disease (CHD) in pregnant women with familial risk who had been referred for fetal echocardiography. Material and Methods. 1634 pregnancies from 1483 women with familial history of CHD in one or more relatives were studied. Fetal cardiologic diagnosis was compared with postnatal findings at 6 months or at autopsy. Results. Total recurrence rate of CHD was 3.98%, 4.06% in single familial risk, 2.9% in double, and 5% in multiple risk. It was 3.5% in case of one previously affected child; 4.5% with 2 children; 5.2% with the mother alone affected and 7,5% with father alone affected and 3.5% with a single distant relative. Exact concordance of CHD was found in 21.5% and a partial concordance in 20% of cases. Conclusions. Our data show a higher recurrence rate of CHD than previously published data and high relative risk ratios compared to normal population.

Reliability of the first-trimester cardiac scan by ultrasound-trained obstetricians with high-frequency transabdominal probes in fetuses with increased nuchal translucency.

To examine prospectively the reliability of ultrasound‐trained obstetricians performing a first‐trimester fetal cardiac scan with high‐frequency transabdominal probes, by confirming normal or abnormal heart anatomy, in pregnancies referred for increased nuchal translucency thickness (NT).

Natural history of 107 cases of fetal aortic stenosis from a European multicenter retrospective study

Fetal aortic valvuloplasty (FV) aims to prevent fetal aortic valve stenosis progressing into hypoplastic left heart syndrome (HLHS), which results in postnatal univentricular (UV) circulation. Despite increasing numbers of FVs performed worldwide, the natural history of the disease in fetal life remains poorly defined. The primary aim of this study was to describe the natural history of fetal aortic stenosis, and a secondary aim was to test previously published criteria designed to identify cases of emerging HLHS with the potential for a biventricular (BV) outcome after FV.

Prospective evaluation from single centre of pregnancy in women with congenital heart disease.

OBJECTIVES Study of outcomes of pregnancy in women with congenital heart disease. MATERIAL AND METHODS The cardiac state during and after pregnancy was analysed in 173 women (mean age 28 years, range 21-41) referred for fetal echocardiography and evaluation of maternal heart during 201 pregnancies. Acyanotic lesions were present in 152 women (100 operated), in 175 pregnancies; cyanotic lesions in 21, all operated, in 26 pregnancies. Eighteen patients in 20 pregnancies (9.9% pregnancies) presented an increased risk due to severe arrhythmias or relevant residual hemodynamic lesions (risk group). RESULTS Complications related to heart defects occurred in 9/201 (4.5%), pregnancies: in 6/175 (3.4%) pregnancies with acyanotic lesions, in 3/26 (11.5%) with cyanotic lesions and in 9/20 pregnancies of the risk group (45%), with a statistically significant difference with respect to the non-risk group. Two cases had serious tachyarrhythmias, five worsened hemodynamic state or cyanosis, one had hemorrhage post-partum on anticoagulants and one died of a rupture of isthmic aneurysm post-coarctectomy. Prematurity occurred in 19.2% of pregnancies with cyanotic and 5.7% with acyanotic lesions. There were 6/201 recurrences of cardiac anomaly (3%). CONCLUSIONS Patients with uncomplicated heart disease had normal course of pregnancy, while complications due to serious arrhythmias or residual hemodynamical lesions and cyanosis occurred in 4.5% of pregnancies and, mainly in 45% of those with increased risk. Thorough evaluation of the cardiologic risk is mandatory for a correct counseling of women planning pregnancy.

Features and outcomes in utero and after birth of fetuses with myocardial disease.

Objectives. Ninety-one fetuses with dilated or hypertrophic cardiomyopathy (DCM, HCM) and myocarditis were studied. Results. Group 1 “DCM” included 19 fetuses: 13 with hydrops (FH) and 5 with associated extracardiac anomalies (ECAs) (15.8%). Group 2 “Myocarditis” included twelve fetuses, having 11 with FH. Group 3 “HCM” included sixty fetuses: 26 had associated ECAs, 17 had maternal diabetes, and 17 were “idiopathic”; however, in one case, a metabolic disorder was found postnatally, and 4 had familiarity for HCM. Outcomes. Ten cases opted for termination of pregnancy. Two cases with DCM and 1 with HCM were lost at follow-up. Out of the cases that continued pregnancy, with known follow-up, mortality was 68.75% in Group 1, 63.6% in Group 2, and 31.3% in Group 3 (the majority with severe ECAs). Surviving cases with DCM and myocarditis improved, 2 with HCM worsened, 6 remained stable, and 26 improved or normalized. Conclusions. Our data show more severe prognosis in DCM and myocarditis and forms with severe associated ECAs.

Fetal hemodynamic response to aortic valvuloplasty and postnatal outcome: a European multicenter study

Fetal aortic stenosis may progress to hypoplastic left heart syndrome. Fetal valvuloplasty (FV) has been proposed to improve left heart hemodynamics and maintain biventricular (BV) circulation. The aim of this study was to assess FV efficacy by comparing survival and postnatal circulation between fetuses that underwent FV and those that did not.