Three-dimensional-mapping-guided permanent conduction system pacing in paediatric patients with congenitally corrected transposition of the great arteries.

AIMS: In congenitally corrected transposition of the great arteries (CCTGA) the right ventricle (RV) is systemic. Atrioventricular block (AVB) and systolic dysfunction are frequently observed. Permanent pacing of the subpulmonary left ventricle (LV) may worsen RV dysfunction. The aim of this study was to seek out if LV conduction system pacing (LVCSP) guided by three-dimensional-electroanatomic mapping systems (3D-EAMs) can preserve RV systolic function in paediatric CCTGA patients with AVB. METHODS AND RESULTS: Retrospective analysis of CCTGA patients who underwent 3D-EAM-guided LVCSP. Three-dimensional-pacing map guided lead implantation towards septal sites with narrower paced QRS. Electrocardiograms (ECGs), echocardiograms, and lead parameters (threshold, sensing, and impedance) were compared at baseline (pre-implantation) and at 1-year follow-up. Right ventricle function was evaluated by 3D ejection fraction (EF), fractional area change (FAC), RV global longitudinal strain (GLS). Data are reported as median (25th-75th centiles). Seven CCTGA patients aged 15 (9-17) years, with complete/advanced AVB (4 with prior epicardial pacing), underwent 3D-guided LVCSP (5 DDD, 2 VVIR). Baseline echocardiographic parameters were impaired in most patients. No acute/chronic complications occurred. Ventricular pacing was >90%. At 1-year follow-up QRS duration showed no significant changes compared with baseline; however, QRS duration shortened in comparison with prior epicardial pacing. Lead parameters remained acceptable despite ventricular threshold increased. Systemic RV function was preserved: FAC and GLS improved significantly, and all patients showed normal RV EF (>45%). CONCLUSION: Three-dimensional-EAM-guided LVCSP preserved RV systolic function in paediatric patients with CCTGA and AVB after short-term follow-up.

Crossed pulmonary arteries: An underestimated cardiovascular variant with a strong association with genetic syndromes-A report of 74 cases with systematic review of the literature.

Crossed pulmonary arteries (CPAs) represent an uncommon anatomic variant, usually associated with some specific syndromes and conotruncal defects. This finding has been described in 22q11.2 Deletion Syndrome (22q11.2DS). We evaluated the correlation between CPAs and genetic diseases, in order to better define the characteristics of this variant, considered a rare anatomic pattern. An in-depth analysis of CPAs genotype-phenotype correlations was performed via a literature review. We detected 74 CPAs patients through echocardiography. Of these 74 patients, 35.1% of patients showed additional intracardiac malformations, while 29.7% showed extracardiac vascular anomalies, of which 16.2% were associated with intracardiac defects and 13.5% were not. In all, 62.2% of patients were diagnosed with genetic diseases and 52.2% of them were 22q11.2DS patients. In conclusions, CPAs represent a cardiovascular variant, which is detectable in nonsyndromic individuals, but especially in various genetic syndromes and in particular in 22q11.2DS patients. Data on the real prevalence of this morphology is lacking in literature. Knowledge of this anatomic variant is useful to interpret the unusual course of the pulmonary branches and is helpful information before cardiovascular surgical correction. Moreover, due to the strong association of CPAs with some genetic syndromes, the identification of this anatomic pattern can indicate the utility of a genetic assessment of these patients.

Aortic Valve Neocuspidalization May Be a Viable Alternative to Ross Operation in Pediatric Patients.

The aim of the study was to evaluate the medium-term results of aortic valve neocuspidalization according to Ozaki compared to Ross procedure for treatment of isolated aortic valve disease in pediatric age. Thirty-eight consecutive patients with congenital or acquired aortic valve disease underwent either Ozaki (n = 22) or Ross (n = 16) operation between 01/2015 and 05/2020. The primary outcome was progression of aortic valve disease and aortic ring and root dimension, whereas secondary outcome was freedom from reintervention or death by type of operation. Median age was 12.4 (8.8-15.8) years and the prevailing lesion was stenosis in 20 cases (52%) and incompetence in 18 (48%). One death occurred in the Ross group in the early postoperative period, while there were no deaths in the Ozaki group. Effective treatment of aortic valve stenosis or regurgitation occurred in both groups and remained stable over a median follow-up of 18.2 (5-32) months. In Ozaki group, 3 patients required aortic valve replacement at 4.9, 3.5, and 33 months, respectively. In Ross group, 1 patient required Melody pulmonary valve replacement, whereas none required aortic valve surgery. Finally, significantly higher aortic transvalvular gradient at follow-up was recorded in Ozaki group compared to Ross group. Overall, there was no significant difference in freedom from reoperation or death between the two groups. The medium-term outcome of Ozaki and Ross in pediatric patients is similar, despite an increased tendency of the former to develop aortic transvalvular gradient in the follow-up. Future larger multicenter studies with longer follow-up are warranted to confirm these results.

Outcome for Conservative Surgery for the Correction of Severe Mitral Valve Regurgitation in Children: A Single-Center Experience.

Evolving reconstructive techniques have progressively become the preferred approach for treatment of pediatric mitral valve regurgitation. We present our experience in a cohort of patients undergoing surgical correction for severe mitral regurgitation. Fifty-five patients (age 1 month-18 years; median 5 years) were included in the present analysis. Different surgical techniques were used (posterior leaflet augmentation in 25, isolated cleft closure in 12, Alfieri-type procedure in 10, annuloplasty in 5, with artificial chordae in 2, and quadrangular resection with chordal transposition in 1). Follow-up time ranged from 1 to 192 months (median 38[IQR 12-54] months). Operative and follow-up mortality was 0%. Reintervention in the whole population occurred in 31% of patients. However, when first surgery was performed under 2 years of age (no = 17), reintervention reached nearly 50%. The degree of residual mitral regurgitation at follow-up remained stable after surgery, while a significant increase in mean transmitral gradient was observed over time (paired t test = 0.03). In multivariable Cox-regression analysis, post-surgical transmitral gradient was the only independent predictor for reintervention (p = 0.017; HR 2.4; 95%CI 1.2-5.1), after correcting for differences in age at surgery, type of reintervention, mitral annulus dimension, and BSA at the first surgery. ROC curve demonstrated that a post-surgical transmitral mean gradient value > 5 mmHg, was predictive for reintervention (AUC = 0.89; Youden index = 0.44). Our study suggests that the use of conservative technique strategy achieves satisfactory functional results in infants and children with severe MR, although the rate of reoperation in younger patients remains substantial. Post-operative moderate mitral stenosis was the strongest predictor for reoperation.

Left Ventricular Mass Indexing in Infants, Children, and Adolescents: A Simplified Approach for the Identification of Left Ventricular Hypertrophy in Clinical Practice.

OBJECTIVE: To determine a simplified method to identify presence of left ventricular hypertrophy (LVH) in pediatric populations because the relationship between heart growth and body growth in children has made indexing difficult for younger ages. STUDY DESIGN: Healthy children (n = 400; 52% boys, 0-18 years of age) from 2 different European hospitals were studied to derive a simplified formula. Left ventricular mass (LVM) was calculated according to the Devereux formula. The derived approach to index LVM was tested on a validation cohort of 130 healthy children from a different hospital center. RESULTS: There was a strong nonlinear correlation between height and LVM. LVM was best related to height to a power of 2.16 with a correction factor of 0.09. Analysis of residuals for LVM/[(height(2.16)) + 0.09] showed an homoscedastic distribution in both sexes throughout the entire height range. A partition value of 45 g/m(2.16) was defined as the upper normal limit for LVM index. As opposed to formula suggested by current guidelines (ie, LVM/height(2.7)) when applying the proposed approach in the validation cohort of 130 healthy participants, no false positives for LVH were found (0% vs 8%; P < .01). CONCLUSIONS: Our data support the possibility to have a single partition (ie, 45 g/m(2.16)) value across the whole pediatric age range to identify LVH, without the time-consuming need of computing specific percentiles for height and sex.

[Italian Society of Pediatric Cardiology (SICP) position paper on the prevention, diagnosis, treatment and follow-up of cardiotoxicity in pediatric patients with cancer]. / Position paper della Società Italiana di Cardiologia Pediatrica (SICP) su prevenzione, diagnosi, trattamento e follow-up della cardiotossicità nei pazienti oncologici pediatrici.

The survival of pediatric cancer patients has significantly increased thanks to the improvement of oncological treatments. Therefore, it is of utmost importance to manage short- and long-term cardiovascular complications. In pediatric cardio-oncology, there are no recognized guidelines as in adults. Several recommendations and many indications have been derived from the data obtained in the adult cancer population, resulting in greater discrepancies in the clinical management of patients. The aim of this position paper of the Italian Society of Pediatric Cardiology (SICP) is to collect the main evidence regarding the diagnosis, prevention, treatment and follow-up of cardiotoxicity in children, to provide useful indications for clinical practice, and to promote a network between pediatric centers.

Borderline Ventricles: From Evaluation to Treatment.

A heart with a borderline ventricle refers to a situation where there is uncertainty about whether the left or right underdeveloped ventricle can effectively support the systemic or pulmonary circulation with appropriate filling pressures and sufficient physiological reserve. Pediatric cardiologists often deal with congenital heart diseases (CHDs) associated with various degrees of hypoplasia of the left or right ventricles. To date, no specific guidelines exist, and surgical management may be extremely variable in different centers and sometimes even in the same center at different times. Thus, the choice between the single-ventricle or biventricular approach is always controversial. The aim of this review is to better define when "small is too small and large is large enough" in order to help clinicians make the decision that could potentially affect the patient's entire life.

Granulicatella bacteraemia in children: two cases and review of the literature.

BACKGROUND: Granulicatella spp. is a fastidious bacteria responsible for bacteremia and endocarditis which are fatal in about 20% of the cases. These severe infections are uncommon in children under 17 years of age and have proven extremely difficult to treat. CASES PRESENTATION: We report a brief review of the literature and two cases of NVS bacteremia by Granulicatella complicated by infective endocarditis (IE). The first one is that of a 7-year-old Caucasian female with Shone syndrome and IE involving the pulmonary valve homograft, confirmed by echocardiography. The second case is that of a 5-year-old Caucasian male. In this patient echocardiogram was negative for signs of IE; however, a "possible" IE was suspected on the basis of a cardiac catheterization 3 weeks before the onset of fever. Since in both our patients clinical failure of first line antibiotic treatment was observed, we used a combination of meropenem with another anti-streptococcal drug with excellent results. CONCLUSION: In Granulicatella bacteremia in the pediatric population, combination antimicrobial therapy including meropenem should be considered as a second line treatment in non-responding patients.

Association of DiGeorge anomaly and caudal dysplasia sequence in a neonate born to a diabetic mother.

AIM/OBJECTIVE: Several studies have demonstrated a significantly increased risk of specific patterns of congenital anomalies in infants born to diabetic mothers. In particular, caudal dysplasia sequence has been linked to pregnancy complicated by maternal diabetes. In addition, several cases of infants born to diabetic mothers presenting with features of DiGeorge anomaly have been reported. Infants with DiGeorge anomaly can display additional manifestations within the spectrum of caudal dysplasia sequence, including vertebral anomalies and renal agenesis. METHODS: We report a neonate presenting with the co-occurrence of features of both DiGeorge anomaly and caudal dysplasia sequence, born to a mother with poorly controlled insulin-dependent diabetes. RESULTS: The patient was affected by truncus arteriosus type A1 and hypertrophic cardiomyopathy. CONCLUSION: Maternal diabetes can cause a spectrum of manifestations, expressing with isolated DiGeorge anomaly or caudal dysplasia sequence, with intermediate phenotypes or with the co-occurrence of both the congenital anomalies in the same patient. The present observations argue for a feasible link between truncus arteriosus with hypertrophic cardiomyopathy, DiGeorge anomaly, and maternal diabetes.

Double-Outlet Left Ventricle: Case Series and Systematic Review of the Literature.

Double-outlet left ventricle (DOLV) is an abnormal ventriculo-arterial connection characterized by the origin of both great arteries from the morphological left ventricle. The aim of our paper is to describe the morphological and imaging features of DOLV and to assess the prevalence of the associated malformations and their surgical outcomes. METHODS From 2011 to 2022, we retrospectively reviewed the electronic case records of patients diagnosed with DOLV at the Bambino Gesu Children's Hospital. A systematic search was developed in MEDLINE, Web of Science, and EMBASE databases to identify reports assessing the morphology and outcomes of DOLV between 1975 and 2023. RESULTS: Over a median follow-up of 9.9 years (IQR 7.8-11.7 y), four cases of DOLV were identified at our institution. Two patients were diagnosed with (S,D,D) DOLV subaortic VSD and pulmonary stenosis (PS): one patient had (S,D,D) DOLV with doubly committed VSD and hypoplastic right ventricle, and another patient had (S,D,L) DOLV with subaortic VSD and PS (malposition type). Pulmonary stenosis was the most commonly associated lesion (75%). LITERATURE REVIEW: After systematic evaluation, a total of 12 reports fulfilled the eligibility criteria and were included in our analysis. PS or right ventricular outflow tract obstruction was the most commonly associated lesion (69%, 95% CI 62-76%). The most common locations of VSD were subaortic (pooled prevalence: 75%, 95% CI 68-81), subpulmonary (15%, 95% CI 10-21), and doubly committed (7%, 95% CI 4-12). The position of the great arteries showed that d-transposition of the aorta was present in 128 cases (59% 95% CI 42-74), and l-transposition was present in 77 cases (35%, 95% CI 29-43).

[Heart involvement in multisystem inflammatory syndrome in children correlated with SARS-CoV-2 infection: a review by ANMCO/SICP]. / Le manifestazioni cardiache nella sindrome multisistemica infiammatoria del bambino correlate all'infezione da SARS-CoV-2: una rassegna a cura di ANMCO/SICP.

Acute clinical manifestations of COVID-19 are generally less severe in childhood, however a proportion of them can develop a severe systemic hyperinflammatory syndrome after SARS-CoV-2 infection, known as the multisystem inflammatory syndrome (multisystem inflammatory syndrome in children, MIS-C). Cardiovascular manifestations in MIS-C are frequent (34-82%), including myocardial dysfunction, coronary artery dilation or aneurysms, arrhythmias, conduction abnormalities, pericarditis and valvulitis. The most affected cases can develop cardiogenic shock needing intensive care unit admission, inotropic support and sometimes even mechanical circulatory support. The elevation of myocardial necrosis markers, the frequently transient left ventricular systolic dysfunction and the presence of changes on magnetic resonance imaging, support the hypothesis of an immune-mediated post-viral pathogenesis similar to myocarditis. Although MIS-C shows excellent short-term survival, further studies are needed to demonstrate complete reversibility of residual subclinical heart damage.

[Proposal of a common model for informed consent for interventional procedures in congenital heart disease patients]. / Proposta di un modello comune al consenso informato per le procedure di emodinamica nel cardiopatico congenito.

BACKGROUND: A multidisciplinary study group involving physicians and jurists was established to review and approve an informed consent about the most frequent interventional procedures for congenital heart diseases. METHODS: The authors worked together with representatives of the Italian Society of Pediatric Cardiology and Congenital Heart Disease (SICP) Council and Jurist's expert in the field of health case-law. The final draft was shared with the major Italian centers involved in congenital interventional procedures and with AICCA, the Italian Patients Association of Congenital Heart Diseases - Adults and Children. RESULTS: At the end of this review process, a final informed consent form was developed for the most frequent procedures performed in our catheterization laboratories. All of them consist of two parts: a general statement and a procedure-related one. CONCLUSIONS: The work performed by this multidisciplinary study group, under the supervision of the SICP, resulted in a new dedicated informed consent about interventional procedures in the field of congenital cardiology, taking into account the new legal requests. This informed consent is intended to be both a document that can be used as such and a document from which to derive a specific document for each center. We believe that using similar informed consents in all Congenital Heart Disease Centers or at least have informed consents all inspired by the same setting, could be a further improvement in taking care of the patients and their families.

Aortic valve neocuspidalization in paediatric patients with isolated aortic valve disease: early experience.

OBJECTIVES: There is growing interest in the aortic valve (AV) neocuspidalization technique for the treatment of aortic valve disease (AVD). We report our medium-term results with this procedure performed in a paediatric patient population. METHODS: Between July 2016 and May 2020, 22 patients with both congenital and acquired isolated AVD were treated with neocuspidalization. The primary outcome was progression of the preoperatively assessed AVD in the immediate postoperative course and at follow-up. Secondary outcome was freedom from reintervention by material used. Potential predictors of failure were analysed in relation to the primary outcome. RESULTS: The median age at operation was 13.9 (interquartile range, 9.8-16.2) years, and the prevailing AV defect was stenosis in 10 cases (45%) and incompetence in 12 (55%). Pre-treated autologous pericardium was used in 13 patients whereas bovine pericardium in 9. Effective treatment of AV stenosis or regurgitation was achieved and remained stable over a median follow-up of 11.3 (4.7-21) months. Three patients required AV replacement at 4.9, 3.5 and 33 months. At follow-up, an upward trend of both median indexed vena contracta jet widths and aortic peak and mean gradients were recorded, the latter associated with a failure to grow the aortic annulus. Predictor of such outcome turned out to be the use of bovine pericardium. A significant inverse linear correlation between AV peak gradient at follow-up and preoperative aortic annular size (P = 0.008) was also demonstrated. CONCLUSIONS: The Ozaki procedure is safe and effective in paediatric patients with AV disease. The use of heterologous pericardium should probably be minimized. Moreover, preoperative small aortic annuli should probably be promptly treated by means of an associated ring enlargement procedure.

Resilience and response of the congenital cardiac network in Italy during the COVID-19 pandemic.

: The worldwide response to the current COVID-19 pandemic has been focused on how to prevent the disease and to protect the high-risk patient from a potentially lethal infection. Several consensus and guidelines articles have been published dealing with the cardiac patient with systemic hypertension, heart transplant or heart failure. Very little is known about the patients, both in the pediatric as well as in the adult age, with congenital heart disease. The peculiar physiology of the heart with a native, repaired or palliated congenital heart defect deserves a specialized care. Hereby we describe the early recommendations issued by the Italian Society of Pediatric Cardiology and Congenital Heart Disease and how the network of the congenital cardiac institutions in Italy reacted to the threat of potential wide spread of the infection among this fragile kind of patient.

Impact of hard lockdown on interventional cardiology procedures in congenital heart disease: a survey on behalf of the Italian Society of Congenital Heart Disease.

The Coronavirus disease 2019 (COVID-19) pandemic has thoroughly and deeply affected the provision of healthcare services worldwide. In order to limit the in-hospital infections and to redistribute the healthcare professionals, cardiac percutaneous intervention in Pediatric and Adult Congenital Heart Disease (ACHD) patients were limited to urgent or emergency ones. The aim of this article is to describe the impact of the COVID-19 pandemic on Pediatric and ACHD cath laboratory activity during the so-called 'hard lockdown' in Italy. Eleven out of 12 Italian institutions with a dedicated Invasive Cardiology Unit in Congenital Heart Disease actively participated in the survey. The interventional cardiology activity was reduced by more than 50% in 6 out of 11 centers. Adolescent and ACHD patients suffered the highest rate of reduction. There was an evident discrepancy in the management of the hard lockdown, irrespective of the number of COVID-19 positive cases registered, with a higher reduction in Southern Italy compared with the most affected regions (Lombardy, Piedmont, Veneto and Emilia Romagna). Although the pandemic was brilliantly addressed in most cases, we recognize the necessity for planning new, and hopefully homogeneous, strategies in order to be prepared for an upcoming new outbreak.

Echocardiographic two-dimensional speckle tracking identifies acute regional myocardial edema and sub-acute fibrosis in pediatric focal myocarditis with normal ejection fraction: comparison with cardiac magnetic resonance.

The aim here was to describe the role of speckle tracking echocardiography (STE), in identifying impairment in systolic function in children and adolescents with focal myocarditis and without reduction in ejection fraction. We describe data from 33 pediatric patients (age 4-17 years) admitted for focal myocarditis, confirmed by cardiac magnetic resonance (CMR), and without impaired ejection fraction and/or wall motion abnormalities. All children underwent Doppler echocardiography examination with analysis of global (G) and segmental longitudinal strain (LS) and CMR for the quantification of edema and myocardial fibrosis. Reduction in LS was defined according to age-specific partition values. At baseline, impaired GLS was present in 58% of patients (n = 19), albeit normal ejection fraction. LS was also regionally impaired, according to the area of higher edema at CMR (i.e. most impaired at the level of the infero-lateral segments as compared to other segments (p < 0.05). GLS impairment was also moderately correlated with the percentage edema at CMR (r = - 0.712; p = 0.01). At follow-up, GLS improved in all patients (p < 0.001), and normal values were found in 13/19 patients with baseline reduction. Accordingly persistent global and regional impairment was still observed in 6 patients. Patients with persistent LS reduction demonstrated residual focal cardiac fibrosis at follow-up CMR. Both global and regional LS is able to identify abnormalities in systolic longitudinal mechanics in children and adolescents with focal myocarditis and normal ejection fraction. The reduction in LS is consistent with edema amount and localization at CMR. Furthermore, LS identifies regional recovery or persistent cardiac function impairment, possibly related to residual focal fibrosis.

Impact of three-dimensional echocardiography in complex congenital heart defect cases: the surgical view.

Other authors have demonstrated the ability of three-dimensional (3D) echocardiography to produce "en face" views of anomalies such as atrioventricular valve disease and atrial and ventricular septal defects. Few data exist about the usefulness of 3D images for more complex congenital heart defects and the surgical impact of this relatively new technology. This study, covering a period of 8 months and including 43 young patients affected by complex congenital heart defects, demonstrated that the routine use of 3D echocardiography is feasible and valuable for some types of cardiac defects. In fact, 3D images have provided more detailed anatomic definition of interrelations between structures in about one-third (15/43) of our cases, yielding new insight into the anatomy analogous to what can be derived from examining a heart specimen. Our surgeons found the 3D images particularly helpful for providing a realistic and almost specimen-like preview of the surgical anatomy that facilitates planning of the surgical program.

New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome.

AIMS: We investigated the prevalence, type, and course of congenital cardiac defects and systemic hypertension in our patients with Williams-Beuren-Beuren syndrome. METHODS AND RESULTS: We reviewed the clinical records of all patients with Williams-Beuren syndrome examined between 1981 and 2006. We identified 150 patients, aged from 7 months to 45 years, with a follow-up from 6 months to 25 years, the mean being 6.4 years. A cardiac anomaly was present in 113 of the 150 patients (75%). Defects were typical in over four-fifths of the group. We found supravalvar aortic stenosis in 73 of 113 patients (64.6%), isolated in 43. Pulmonary stenosis, isolated in 18 cases, was found in 51 of 113 (45.1%), while aortic coarctation and mitral valvar prolapse were each found in 7 (6.2%), 3 of the lesions is isolation. Atypical defects were found in 19 patients, tetralogy of Fallot in 2, atrial septal defects in 4, aortic and mitral valvar insufficiencies in 1 each, bicuspid aortic valves in 2, and ventricular septal defects in 9, 4 of the last being isolated. Systemic hypertension, observed in 33 patients (22%), was poorly controlled in 10. Diagnostic and/or interventional cardiac catheterization was undertaken in 24 patients, with 30 surgical procedures performed in 26 patients. Of the group, 3 patients died. CONCLUSION: Cardiac defects were present in three-quarters of our patients. Pulmonary arterial lesions generally improved, while supravalvar aortic stenosis often progressed. Atypical cardiac malformations, particularly ventricular septal defects, occurred frequently. Systemic hypertension was found in one-fifth, even in the absence of structural cardiac defects. The short-term mortality was low.

[Physiological and paraphysiological echocardiographic findings in neonatal and pediatric age]. / Reperti ecocardiografici fisiologici e parafisiologici in età neonatale e pediatrica.

Echocardiographic quantification is crucial for the diagnosis and management of patients with acquired and congenital heart disease (CHD). In neonatal and pediatric age, the echocardiogram begins with subxiphoid, or subcostal, imaging instead of left parasternal views. This allows for the determination of visceral situs (site or location) at the beginning of an examination. Regardless of where the examination starts, the segmental approach is used to describe all of the major cardiovascular structures in sequence. Patent foramen ovale is a normal interatrial communication during fetal life. Complete anatomic closure of the foramen ovale occurs in 70-75% of adults, which means that almost 25% of the population has a patent foramen ovale. Atrial septal defects are a common congenital disorder with a prevalence of approximately 2 per 1000 live births. The reported rate of spontaneous atrial septal defect closure in the first year of life ranges from 4% to 96%. The most important predictor for spontaneous closure is the size of the defect, with smaller defects more likely to close. Systemic-to-pulmonary collateral arteries can occur in premature infants without chronic lung disease and may represent a transient phenomenon. They may be present normally after birth and then gradually disappear. Physiological valvular regurgitation is most commonly observed in the tricuspid valve among children (32.8%), followed by pulmonary regurgitation (17.2%). The ductus arteriosus usually is functionally closed within 48 h of birth, although some authors consider the patent ductus to be abnormal only after 3 months of age. Prematurity clearly increases the incidence of patent ductus arteriosus.

Cardiac Abnormalities in Children with Autosomal Recessive Polycystic Kidney Disease.

BACKGROUND: No previous study has defined the prevalence of cardiac geometric and mechanical function abnormalities through the analysis of advanced echocardiographic parameters in children with autosomal recessive polycystic kidney disease (ARPKD). AIM: The purpose of this study was to evaluate cardiac geometry and function through advanced echocardiography in a well-characterized sample of pediatric patients with ARPKD. METHODS: Standard echocardiograms were obtained in 27 children with ARPKD (0-18 years) and in 88 healthy children of similar age, gender distribution, and body build. Left ventricular (LV) hypertrophy was defined as LV mass > 45g/(m2.16 + 0.09) and cardiac remodeling was defined by age-adjusted relative wall thickness (RWT). Systolic function was assessed by ejection fraction, midwall fractional shortening (mFS), and global longitudinal (GLS) and circumferential strain (GCS). RESULTS: Patients with ARPKD exhibited a higher LV mass index as compared to controls, and a more concentric LV geometry (both p < 0.001). Accordingly, the prevalence of abnormal LV geometry was significantly higher in ARPKD (33 vs. 0%; p < 0.005). No differences could be observed in the two groups for ejection fraction or GLS (both p = n.s.), while a significantly lower mFS (p < 0.05) as well as GCS (p < 0.001) could be observed. In the analysis of covariance, both LV mass index and RWT remained significantly higher in the ARPKD group, while mFS and GCS remained significantly lower (all p < 0.05). The prevalence of subclinical systolic dysfunction was significantly higher in patients with ARPKD as compared with control subjects (33 vs. 0%; p < 0.001). CONCLUSIONS: Children with ARPKD show significantly impaired cardiac phenotype, characterized by high rates of LV abnormal geometry paired with systolic mechanical dysfunction.