First trimester prenatal diagnosis of a severe tricuspid valve regurgitation and pulmonary valve atresia.

Early diagnosis of congenital heart defect (CHD) increased in the last two decades, following technological evolution. A recent meta-analysis (Yu, 2020), on diagnostic accuracy in ultrasound detection of major CHD in the first trimester of pregnancy, reported an overall sensitivity of 75%. Ultrasound imaging of this case refers to a tricuspid valve dysplasia with right atriomegaly and pulmonary valve atresia diagnosed in a 13-week gestational-age fetus with low risk for chromosomal abnormalities. To our knowledge, this is the first case describing such features in the first trimester. We believe the precocity and severity of onset make this a case of diagnostic interest.

'Absent' pulmonary valve with intact ventricular septum mimicking tricuspid valve atresia: Prenatal diagnosis and postnatal course.

Absent pulmonary valve syndrome is a rare congenital heart disease characterized by absent or rudimentary pulmonary valve leaflets and hypoplastic pulmonary annulus. The most common variant, associated with tetralogy of Fallot, implies dilatation of pulmonary branches and usually absent ductus arteriosus. Rarely, absent pulmonary valve occurs with intact ventricular septum: pulmonary branches are normally sized or mildly dilated and ductus arteriosus is usually patent. The rarest type is associated with intact ventricular septum and tricuspid atresia. A close connection has been raised between pulmonary regurgitation and development of tricuspid valve. We describe a case of prenatal diagnosed absent pulmonary valve with intact ventricular septum and patent ductus arteriosus in which severe pulmonary regurgitation caused reversible functional atresia of tricuspid valve. Postnatally, satisfactory biventricular circulation was obtained with inotropic support for a few days while ductus arteriosus closed spontaneously. At a 3-year follow up the child is asymptomatic without therapy.

Right aortic arch with bilateral arterial duct and nonconfluent pulmonary arteries without associated cardiac defects: Prenatal diagnosis and successful postnatal treatment.

We describe a rare case of right aortic arch with bilateral arterial duct and disconnected left pulmonary artery. Prenatal diagnosis allowed to plan delivery at the referral center and to maintain perfusion of the disconnected pulmonary artery through prostaglandin E1 infusion until surgical reconnection was performed. Early postnatal treatment avoided functional loss of the left lung that would have happened if malformation had not been identified before birth.

Aortic Arch Interruption and Persistent Fifth Aortic Arch in Phace Syndrome: Prenatal Diagnosis and Postnatal Course.

PHACE is a rare congenital neurocutaneous syndrome where posterior fossa malformations, hemangiomas, cerebrovascular anomalies, aortic arch anomalies, cardiac defects, and eye abnormalities are variably associated. We describe the prenatal detection and the postnatal course of a child with PHACE syndrome with a unique type of aortic arch anomaly consisting of proximal interruption of the aortic arch and persistence of the fifth aortic arch. The fifth aortic arch represented in this case a vital systemic-to-systemic connection between the ascending aorta and the transverse portion of the aortic arch allowing adequate forward flow through the aortic arch without surgical treatment.

Potential effects of environmental chemical contamination in congenital heart disease.

There is compelling evidence that prenatal exposures to environmental xenobiotics adversely affect human development and childhood. Among all birth defects, congenital heart disease (CHD) is the most prevalent of all congenital malformations and remains the leading cause of death. It has been estimated that in most cases the causes of heart defects remain unknown, while a growing number of studies have indicated the potential role of environmental agents as risk factors in CHD occurrence. In particular, maternal exposure to chemicals during the first trimester of pregnancy represents the most critical window of exposure for CHD. Specific classes of xenobiotics (e.g. organochlorine pesticides, organic solvents, air pollutants) have been identified as potential risk factors for CHD. Nonetheless, the knowledge gained is currently still incomplete as a consequence of the frequent heterogeneity of the methods applied and the difficulty in estimating the net effect of environmental pollution on the pregnant mother. The presence of multiple sources of pollution, both indoor and outdoor, together with individual lifestyle factors, may represent a further confounding element for association with the disease. A future new approach for research should probably focus on individual measurements of professional, domestic, and urban exposure to physical and chemical pollutants in order to accurately retrace the environmental exposure of parents of affected offspring during the pre-conceptional and pregnancy periods.

Clinical outcome, valve dysfunction, and progressive aortic dilation in a pediatric population with isolated bicuspid aortic valve.

The aim of this study was to explore the medium-term clinical outcome and the risk of progression of aortic valve disease and aortic dilation in pediatric patients with isolated bicuspid aortic valve (BAV). 179 pediatric patients with isolated BAV were prospectively followed from January 1995 to December 2010. Patients with severe valve dysfunction at baseline were excluded. Clinical outcome included cardiac death, infective endocarditis, aortic complications, cardiac surgery and percutaneous valvuloplasty. Echocardiographic endpoints were: progression of aortic stenosis (AS) or regurgitation (AR) and progressive aortic enlargement at different levels of the aortic root, evaluated as z-score. The median age at diagnosis was 7.8 [2.7-12.0] years. After a median followup of 5.4 [2.3-9.2] years, all patients were alive. The clinical endpoint occurred in 4 (2.2 %) patients (0.41 events per 100 patient-years). A progression of AS and AR was observed in 9 (5.0 %) and 29 (16.2 %) patients, respectively. The z-scores at the end of follow-up were not significantly different from baseline at the annulus, Valsalva sinuses and sinotubular junction, whereas a slight increase was observed at the level of the ascending aorta (1.9 vs 1.5, p = 0.046). Significant progressive aortic dilation occurred in a minority of patients (10.6, 5.6, 9.5, and 19.0 % respectively). The clinical outcome in pediatric patients with isolated BAV is favourable and the progression of aortic valve dysfunction and aortic dilation is relatively slow. These findings may be taken into account to better guide risk assessment and clinical follow-up in these patients.

Prevalence and long-term predictors of left ventricular hypertrophy, late hypertension, and hypertensive response to exercise after successful aortic coarctation repair.

Controversial data exist about the long-term results of aortic coarctation (AC) repair. This study explored the prevalence and predictors of left ventricular (LV) hypertrophy, late hypertension, and hypertensive response to exercise in 48 subjects (age, 15.1 ± 9.7 years) currently followed in the authors' tertiary care hospital after successful AC repair. Data on medical history, clinical examination, rest and exercise echocardiography, and ambulatory blood pressure monitoring were collected. The time from AC repair to follow-up evaluation was 12.9 ± 9.2 years. The prevalence of LV hypertrophy ranged from 23 to 38 %, based on the criteria used to identify LV hypertrophy, and that of concentric geometry was 17 %. One sixth of the patients without residual hypertension experienced late-onset hypertension. One fourth of those who remained normotensive without medication showed a hypertensive response to exercise. Age at AC repair was the strongest independent predictor of LV hypertrophy, defined using indexation either for body surface area (odds ratio [OR], 1.03; p = 0.0090) or for height(2.7) (OR 1.02; p = 0.029), and it was the only predictor of late hypertension (OR 1.06; p = 0.0023) and hypertensive response to exercise (OR 1.09; p = 0.029). The risk of LV hypertrophy was 25 % for repair at the age of 3.4 years but rose to 50 and 75 % for repair at the ages of 5.9 and 8.4 years, respectively. Similar increases were found for the risk of late-onset hypertension and hypertensive response to exercise. A considerable risk of LV hypertrophy, late hypertension, and hypertensive response to exercise exists after successful AC repair. Older age at intervention is the most important predictor of these complications.

The multiform sonographic spectrum of arterial duct in right aortic arch.

To study the different characteristics of arterial duct (AD) in a series of prenatally detected right aortic arch (RAA). Out of 832 congenital heart diseases (CHD) referred to a tertiary center, 98 cases had RAA. Based on anatomical landmarks we identified 7 types of AD: type 1 left-sided, transverse; type 2 left-sided, vertical; type 3 from the underside of aortic arch (AA), vertical; type 4 right-sided, mirror-image "V", transverse; type 5 right-sided, "H" shaped, transverse; type 6 bilateral; type 7 absent or unidentifiable. For each type of AD the incidence of associated major CHD was calculated and chi-square test was applied to verify the null hypothesis with significance level of p < 0.05. Type 1 occurred in 43% of cases including 4 with CHD and no cases with pulmonary outflow obstruction (POO). Symptoms of vascular ring were present in 41% of survivors. Type 2, 3 and 7 AD were associated with tetralogy of Fallot (TOF) or equivalents. No type 5 AD with CHD had POO and 3 isolated cases had asymptomatic hypoplasia of left pulmonary artery (LPA). Two type 6 AD had disconnection of LPA. Type 1 occurred more often as an isolated finding (p < 0.001), whereas types 2 (p = 0.0026), 3 (p = 0.0045), 4 (p = 0.0325) and 7 (p = 0.0001) were frequently associated with major CHD. In RAA, type 1 (U-shaped) is usually an isolated finding (p < 0.001) which includes all symptomatic vascular rings. POO is always present when the AD is vertical or absent but not when it lies on a transverse plane. Bilateral AD is rare and brings the risk of functionary loss of left lung if not identified.

The impact of treatment of the fetus by maternal therapy on the fetal and postnatal outcomes for fetuses diagnosed with isolated complete atrioventricular block.

OBJECTIVES: to analyse retrospectively the data of fetuses diagnosed with isolated complete atrioventricular block and efficacy of treatment of the fetus by maternal therapy. MATERIALS: Between 1992 and 2004, we diagnosed complete atrioventricular block in 26 singleton and 2 twins fetuses of 27 pregnant women known to have anti Ro/La antibodies, 11 with autoimmune disease, one patient analysed in 2 pregnancies. At presentation, 20 of the fetuses were compensated and non-hydropic, while 8 had hydrops. Twenty patients were treated with dexamethasone, 2 with associated salbutamol and one mother with isoproterenol. RESULTS: Age at presentation was not different between the hydropic and non-hydropic fetuses. The fetuses with hydrops, however, had a lower mean heart rate at presentation, 48.5 +/- 9.25 with a range from 32 to 60, compared to 59.95 +/- 7.9 beats per minute, with a range from 50 to 80, in the non-hydropic fetuses (p less than 0.002). Equally, after birth the mean heart rate in hydropic fetuses was 42.6 +/- 5.1, with a range from 38 to 50, as opposed to 56.05 +/- 11.8 beats per minute, with a range from 29 to 110, in the non-hydropic fetuses (p less than 0.015), The hydropic fetuses were delivered at 31.7 +/- 3.8 weeks' gestation, with a range from 29 to 38 weeks (p less than 0.003) compared to 35.5 weeks' gestation +/-2.04, with a range from 31 to 38, in the non-hydropic fetuses. Mortality was 37.5% in the hydropic fetuses, versus 5% of those without hydrops (p less than 0.02). Pacemakers were implanted in 22 of 26 infants born alive, at a median of 45 days, with a range from 1 day to 5 years, in those without hydrops during fetal life, and 3 days, with a range from 1 day to 8 months in those afflicted by hydrops, of whom 2 died despite the implant of the pacemaker. The presence and degree of hydrops had a significantly negative predictive value. No significant differences were observed between the treated and non treated cases, albeit that administration of steroids ameliorated rapidly the hydrops in 3 of 5 cases. CONCLUSIONS: The outcome in our cases was mainly dependent on the presence and degree of fetal cardiac failure. Treatment of the fetus by maternal administration of steroids did not result in any regression of the conduction disorder, but had a favourable effect on fetal hydrops.

Sirolimus in Infants with Multiple Cardiac Rhabdomyomas Associated with Tuberous Sclerosis Complex.

INTRODUCTION: Cardiac rhabdomyomas represent a frequent manifestation of tuberous sclerosis. Tumor growth, mainly prenatally, can result in intrauterine fetal or neonatal deaths in almost 10% of patients. CASE REPORT: We treated 3 consecutive infants aged less than 12 months with sirolimus, an oral mTOR inhibitor. All patients achieved significant reductions in cardiac rhabdomyomas. A complete response was documented in 2 patients, while a partial response with tumor debulking greater than 50% was seen in the other one. The median time to best cardiac response was 1.9 months in all patients, and 3.3 months in those with complete response. The side effects profile was acceptable. CONCLUSION: Sirolimus may have a significant role in promoting natural regression of cardiac rhabdomyomas. Prospective clinical trials are needed.

[Heart transplant: when the candidate is a child]. / Trapianto cardiaco: quando il candidato è un bambino.

Heart transplant (HT) has been considered as a therapy for pediatric end-stage heart failure (HF) for more than four decades. Children with HF represent a very heterogeneous population, affected by different congenital or acquired heart diseases. Progresses in cardiac surgery and medical therapies, leading to improved prognosis, require periodic re-assessment of indications to HT. Systemic diseases, inherited inborn errors of metabolism, genetic syndromes or associated extra-cardiac malformations can contraindicate HT. In these conditions a tailored evaluation is needed. Pediatric heart disease, which more often may be an indication to HT, as well as prognostic parameters in pediatric HF are discussed.

Right Aortic Arch Detected Prenatally: A Rare Case With Bilateral Arterial Duct and Nonconfluent Pulmonary Arteries.

We describe a rare case of right aortic arch (RAA) and nonconfluent pulmonary arteries. RAA and a right-sided arterial duct (AD) were identified on the prenatal scan, but a second left-sided AD and disconnection of the left pulmonary artery were missed. The missed diagnosis in fetal life adversely affected postnatal management. We suggest that fetuses with a prenatal diagnosis of RAA and right-sided AD be delivered in tertiary care centres to rule out an association with bilateral AD and nonconfluent pulmonary arteries after birth. Prompt postnatal diagnosis will enable preservation of flow in the disconnected pulmonary artery through prostaglandin E1 infusion until surgical reconstruction.

Advanced therapies in patients with congenital heart disease-related pulmonary arterial hypertension: results from a long-term, single center, real-world follow-up.

Pulmonary arterial hypertension (PAH) is a common finding in patients with congenital heart disease (CHD), and has relevant prognostic implications. The recent introduction of advanced therapies (AT) considerably improved the clinical outcome of these patients, but real-world data are still lacking. We aimed at reporting the results of a long-term follow-up of CHD patients with PAH undergoing AT, followed at a tertiary Center during the two last decades. The study population included a total of 34 patients with an established diagnosis of CHD-related PAH. In addition to conventional treatment, 97% of patients started AT during the follow-up. Over a median follow-up of 9 [3-31] years, 11 (32.4%) patients died: 7 of them were affected by Eisenmenger syndrome and the majority of patients were in NYHA class ≥3 at the time of death. Among the 23 patients who were alive at the last follow-up, the majority were in NYHA class I-II. Oxygen saturation and 6-min walking distance improved in all subjects within the first 6 months after starting of AT. One patient with ventricular septum defect and high pulmonary resistances was successfully treated with AT to lower resistances and underwent defect closure. A good clinical outcome was also observed in the subset (n = 8) with Down syndrome. The results of this real-world experience suggest that, despite a relatively high mortality rate mostly related to late commencement of AT, the clinical outcome of subjects with CHD-related PAH undergoing AT are characterized by a good quality of life and clinical improvement in most patients.

Determinants and Regression Equations for the Calculation of z Scores of Left Ventricular Tissue Doppler Longitudinal Indexes in a Healthy Italian Pediatric Population.

Aim. We investigated the predictors of tissue Doppler left ventricular (LV) longitudinal indexes in a healthy Italian pediatric population and established normative data and regression equations for the calculation of z scores. Methods and Results. A total of 369 healthy subjects aged 1-17 years (age of 6.4 ± 1.1 years, 49.1% female) underwent echocardiography. LV peak longitudinal velocity at systole (s (')), early diastole (e (')), and late diastole (a (')) was determined by tissue Doppler. The ratio of peak early diastolic LV filling velocity to e (') was calculated. Age was the only independent determinant of s (') (ß = 0.491, p < 0.0001) and the strongest determinant of e (') (ß = 0.334, p < 0.0001) and E/e (') (ß = -0.369, p < 0.0001). Heart rate was the main determinant of a (') (ß = 0.265, p < 0.0001). Male gender showed no effects except for a weak association with lateral s ('), suggesting no need of gender-specific reference ranges. Age-specific reference ranges, regression equations, and scatterplots for the calculation of z scores were determined for each index. Conclusion. In a pediatric Italian population, age was the strongest determinant of LV longitudinal dynamics. The availability of age-specific normality data for the calculation of z scores may allow for correctly detecting LV dysfunction in pediatric pathological populations.

ALCAPA and massive pulmonary atelectasis: how a stent in the airway can be life-saving.

Anomalous left coronary artery from pulmonary artery (ALCAPA) is a rare congenital anomaly in which left coronary artery arises from the pulmonary artery resulting in progressive myocardial ischemia and dysfunction of the left ventricle. We report a case of ALCAPA with severe cardiac and respiratory failure and huge heart dilation compressing the left main bronchus and preventing from an effective ventilation. Emergency bronchial stenting allowed to improve left lung atelectasis, reduce pulmonary hypertension, resume anterograde left coronary artery perfusion and stabilize cardiovascular conditions to undertake a successful surgical correction.

Giant aorto-pulmonary collaterals in pulmonary atresia and ventricular septal defect: long-term survival in unoperated adults.

The association of pulmonary atresia and ventricular septal defect (PA/VSD) can be considered the most severe form of tetralogy of Fallot. The main feature of this congenital heart disease is represented by discontinuity between the right ventricle and pulmonary trunk or its branches; the anatomy of central pulmonary arteries is often abnormal, consequently the type and the amount of sources of pulmonary blood flow are variable. Due to evolution in surgical techniques, definitive correction is now also considered in more complex cases. A small rate of unoperated patients with PA/VSD can survive until adulthood and the arterial blood supply to the lungs, provided by major aorto-pulmonary collateral arteries (MAPCAs), is one of the main determinants of survival. We report two unoperated cases of PA/VSD and MAPCAs with long-term survival. Giant MAPCAs can occasionally be found by chest radiography in adults with unrepaired PA/VSD. Moreover, non-invasive assessment of the pulmonary arterial bed with computer tomography or MRI is helpful in these patients during follow-up. Finally, we discuss the use of oral anticoagulants and/or 5-phosphodiesterase inhibitors in these patients.

Natural history and clinical outcome of "uncorrected" scimitar syndrome patients: a multicenter study of the italian society of pediatric cardiology.

INTRODUCTION AND OBJECTIVES: To analyze the clinical status of patients with "uncorrected" scimitar syndrome in a multicenter Italian study. METHODS: The natural history of scimitar syndrome was analyzed in 44 affected individuals (from 9 Italian centers). RESULTS: The median age at diagnosis was 1.05 years (range, 1 day-41 years). Thirty-three patients (75%) had an isolated form; 11 patients (25%) had associated congenital heart diseases. Twenty-two patients (50%) were symptomatic at diagnosis, including respiratory symptoms (n=20) and congestive heart failure (n=6). Patients with associated congenital heart defects had a higher prevalence of congestive heart failure (4 of 11 [36.4%] vs 2 of 33 [6.1%]; P=.027), pulmonary arterial hypertension (7 of 11 [63.6%] vs 2 of 33 [6.1%]; P=.027) than patients with isolated forms. Ten patients (22.7%) underwent correction of associated cardiac defects, leaving the anomalous pulmonary venous drainage intact. The median length of follow-up after diagnosis was 6.4 years (range, 0.2-27.5 years). Two patients died, both with associated cardiac defects and severe pulmonary arterial hypertension. Of 42 survivors, 39 (92.8%) were asymptomatic at the last follow-up visit; 3 patients still complained respiratory symptoms. There was no difference between isolated and associated forms of the disease. CONCLUSIONS: In most patients, scimitar syndrome presented as an isolated lesion with a benign outcome. Nonetheless, when associated with other cardiac defects and pulmonary arterial hypertension, there was an increased risk of congestive heart failure and mortality. Correction of associated cardiac defects (transforming "associated" into "isolated" forms), together with the therapeutic occlusion of anomalous arterial supply to the lung, led to a benign outcome comparable to that in primarily isolated forms.

Prevalence and clinical characteristics of adult patients with congenital heart disease in Tuscany.

AIMS: The clinical features of the adult population with congenital heart disease (CHD) are still not well characterized, particularly in the subset with more severe lesions. We report the data collected in the National Association of Hospital Cardiologists Toscana grown-up CHD (GUCH) registry over its first 8-month enrolment period. METHODS: The Registry included consecutive patients aged more than 16 years with a documented diagnosis of CHD, enrolled in seven different Tuscan hospitals using a web-based electronic form. Severe CHD was defined as cyanotic CHD, or acyanotic lesion with significant haemodynamic impact requiring surgical and/or percutaneous correction. RESULTS: Between November 2009 and June 2010 a total of 1641 patients (mean age 41.8 ±â€Š19.3 years, 52.2% women) were enrolled. Atrial septal defect was the most common lesion, accounting for more than one-third of cases. Atrial and ventricular septal defects together accounted for about half of all CHDs. Nearly one-third of patients had New York Heart Association (NYHA) class 2 or more. A history of recurrent arrhythmias was reported in 15% of cases, and 12% of patients were on oral anticoagulants at the time of enrolment. The prevalence of pulmonary hypertension was 6%, and the prevalence of Eisenmenger syndrome was 1.2%. Severe CHD was present in 42% of patients. Younger age, higher NYHA class, male sex, and the need for oral anticoagulants were the only independent predictors of severe CHD. CONCLUSION: Information about the clinical characteristics and the CHD type distribution of a sample of Tuscan GUCH population was provided. Severe CHD accounts for about 40% of all CHDs in this population. CHD severity is associated with younger age, male gender, worse NYHA class, and need for oral anticoagulation.