Congenital Heart Disease: Growth Evaluation and Sport Activity in a Paediatric Population.

(1) Objective: To evaluate: (i) the associations of age and disease severity with anthropometric indices and weight status, (ii) the difference in the frequency of sports activity among different levels of disease severity in paediatric patients with congenital heart disease (CHD). (2) Methods: Clinical data of Caucasian children (aged 2-18 years) diagnosed with CHD (2005-2018) were retrospectively collected from the electronic register of outpatient visits. Of the 475 children with CHD, 368 children and their 1690 complete anthropometric measurements were eligible for inclusion in our analysis.

Long-term Outcomes of the Ross Procedure for Young Patients with Aortic Valve Disease.

To define current role of the Ross operation in young patients, the outcome in those followed longer than 20 years were assessed. Between 1994 and 2020, 81 consecutive patients, 70 of 11 male and/or female, mean age 27 years underwent Ross procedure, accruing 20 years of follow-up or longer. Sixty-four had bicuspid valve (79%) and 54 (67%) aortic insufficiency, while 15 (19%) had undergone prior operations.

Cor Triatriatum and Intracardiac Anomalous Pulmonary Venous Return: An Inborn Atrial Flow Inversion.

A neonate with a diagnosis of nonobstructive intracardiac type total anomalous pulmonary venous connection presented with profound cyanosis in the first days of life. The preoperative specialist echocardiographic examination also identified the presence of partial cor triatriatum dexter. The anatomic pattern of this exceedingly rare disease's association, its peculiar clinical presentation, and surgical management are discussed.

Bicuspid Aortic Valve Disease from Infancy to Older Age: A 25-Year Experience from an Italian Referral Center.

Aim: Bicuspid aortic valve (BAV) is the most common congenital heart defect, with considerable risk of morbidity and mortality. The purpose of the study was to analyze clinical and echocardiographic presentation of BAV in a large-volume tertiary Italian center and to test their interaction with full age span, sex, and first diagnosis versus second referral.

Methods: Consecutive patients of all ages diagnosed with BAV at our center from January 1988 to December 2012 were retrospectively included.

[Cardiologists and mucopolysaccharidoses. Recommendations of GICEM (Cardiology Experts on Metabolic Disease Italian Group) for diagnosis, follow-up and cardiological management].

Mucopolysaccharidoses (MPS) represent a group of rare lysosomal storage disorders, with a heterogeneous clinical presentation in terms of inheritance (autosomal and X-linked recessive), age of onset (infants, children, and adults), systemic and cardiac manifestations (mild to severe disease forms). Evidence-based recommendations on the diagnosis and management of cardiovascular disease in MPS are scarce. GICEM (Gruppo Italiano Cardiologi Esperti Malattie Metaboliche) is a group of cardiologists, cardiac surgeons and pediatricians with a specific expertise in metabolic diseases including MPS.

A modified echocardiographic approach improves reliability of superior vena caval flow quantification.

Objective: To assess accuracy and repeatability of a modified echocardiographic approach to quantify superior vena cava (SVC) flow volume that uses a short-axis view to directly measure SVC area and a suprasternal view to measure flow velocity, both at the level of the right pulmonary artery.

Setting: Three tertiary-level neonatal intensive care units.

Design: This was a multicentre, prospective, observational study.

Hemodynamic predictors of long term survival in end stage cystic fibrosis.

Background: Pulmonary hypertension (PH) is often found in cystic fibrosis (CF) patients affected by end-stage lung disease but its impact on outcome remains unclear. Pulmonary arterial compliance (PAC) is an important determinant of right ventricle (RV) workload and it is a strong predictor of survival in other forms of PH. The aim of this study is to investigate whether PAC is a predictor of long-term prognosis in a population of CF patients affected by advanced lung disease.

Uncorrected Ebstein's anomaly with atrial septal defect complicated by brain abscess in an adult patient.

: We report the case of a 56-year-old male patient affected by a severe form of Ebstein's anomaly (type C of Carpentier classification) with secundum atrial septal defect, who presented to the emergency department with impaired consciousness, seizures, and trismus. The brain computed tomography scan showed evidence of a mass located in the frontal lobe, confirmed by brain MRI consistent with brain abscess. Both echocardiography and cardiac MRI showed no evidence of valvular vegetation.

Pre-eclampsia: evidence of altered ventricular repolarization by standard ECG parameters and QT dispersion.

Pre-eclampsia complicates approximately 6-8% of all pregnancies. Epidemiologic studies have demonstrated a relationship between pre-eclampsia and cardiac morbidity and mortality later in life, but the effect of pre-eclampsia on electrical cardiac activity during the acute phase has not yet been understood. The aim of this study was to investigate ECG alterations during pre-eclampsia.

Spontaneous regression of a large rhabdomyoma of the interventricular septum.

We report the case of a large congenital rhabdomyoma of the interventricular septum diagnosed prenatally. The foetus was strictly monitored with ultrasound throughout the gestation period showing that the mass had increased in size until delivery. Despite the size of the mass, which appeared to occupy the right ventricle, the baby presented no symptoms both in utero and after birth.

Long-term independent predictors of positive response to cardiac resynchronization therapy.

Aims: Cardiac resynchronization therapy (CRT) is currently considered an important breakthrough in the treatment of selected patients with refractory heart failure. However, long-term predictors of mortality, morbidity and time to recovery of ventricular function for those patients who respond positively to CRT remain poorly investigated.

Methods: This is a retrospective follow-up study involving one hospital.

Two cases of double-outlet left ventricle detected prenatally.

Double-outlet left ventricle is an exceedingly rare congenital heart defect. Its prenatal detection and precise anatomical definition are challenging for a variety of reasons and have never been previously reported. Here described are 2 cases of prenatally diagnosed double-outlet left ventricle.

Cardiac resynchronization therapy or sequential pacing in failing Mustard?

The atrial switch (Mustard, Senning procedures) was one of the treatments of choice for repair of transposition of the great arteries from the early 1960s to the mid-1980s. A significant proportion of patients with atrial switch develops systemic (right) ventricular failure. A series of surgical therapeutic options exists to manage cardiac failure in this setting, and, more recently proposed, cardiac resynchronization therapy.

[Aortic intramural hematoma fissuration: atypical presentation in an aircraft pilot].

Aortic intramural hematoma is a life-threatening thoracic aortic pathology. In this report we describe a case of fissuration of an aortic intramural hematoma with atypical clinical presentation, which occurred in an aircraft pilot. The patient was admitted to our emergency room with transient chest pain developed during a flight landing, followed only by persistent abdominal pain.

Arterial tortuosity syndrome in two Italian paediatric patients.

Background: Arterial tortuosity syndrome (ATS) (OMIM #208050) is a rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries, propensity to aneurysms formation, vascular dissection, and pulmonary arteries stenosis. ATS is caused by mutations in SLC2A10 gene, encoding for the facilitative glucose transporter 10 (GLUT10). So far, 17 SLC2A10 mutations have been reported in 32 families, two of which were Italian with a total of five patients.

A neonate with cyanosis and tortuous great arteries.

This report describes an unusual case with tortuosity of the great vessels in a neonate who presented at birth with cyanosis. The diagnosis was made with magnetic resonance imaging (MRI), then confirmed by genetic analysis.

Arrhythmogenic right ventricular dysplasia/cardiomyopathy presenting as ST-segment elevation myocardial infarction: a case report.

Diagnosis of arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is often challenging due to differing clinical presentations and unpredictable progression of the disease. We report a case of ARVD/C that presented as cardiac arrest in an 18-year-old male while playing soccer. The electrocardiographic features after resuscitation were typical of anterior ST-segment elevation acute myocardial infarction, and the patient was initially managed accordingly.

Tricuspid valve repair in an infant with multiple obstructive Candida mycetomas.

Neonatal fungal valve endocarditis is an uncommon and highly lethal disease. The ideal management strategy is still controversial. Current options include antifungal chemotherapy and surgical intervention, the latter being often limited by risks inherent with valve operations in low body weight infants.

Congenital heart disease: a retrospective study of their frequency.

Aim: An early diagnosis of congenital heart disease (CHD) is necessary for the obstetrical management.

Methods: One thousand five hundred and fifty-six pregnant women underwent a fetal 2-D echocardiography from 1991 to 2002. We assessed patients who had the most common risk factor (RF): family history of CHD, diabetes mellitus, teratogen drugs, polyhydramnios, abnormal fetal growth, fetal arrhythmia, maternal age over 40 years, maternal autoimmune disease, maternal disease contracted during pregnancy, oligohydramnios, only umbilical artery, uncorrected visualization in the first level 2-D fetal echocardiography.

Long-term treatment of Barth syndrome with pantothenic acid: a retrospective study.

We report on three patients (two are brothers) with confirmed Barth syndrome treated with pantothenic acid. This treatment is still controversial and only one study has reported positive results to date. In our patients, long-term treatment has failed to reduce the number of infectious episodes and prevent dilated cardiomyopathy.

Fate of the aortic root late after Ross operation.

Background: The Ross operation is an alternative to mechanical aortic valve replacement in the young. Early dilatation of the pulmonary autograft root exposed to the systemic circulation has been reported. To define the prevalence of, risk factors for, and consequences of late autograft dilatation, outcome in all consecutive patients operated since May 1994 was reviewed.

[Neurologic outcome in infants surgically treated for congenital cardiopathy: preliminary data].

Introduction: Both surgical techniques for correction of congenital heart diseases (CHD) and intraoperatory neurologic protection improved during the last 20 years. Nevertheless cardiac surgery is still a risk for neurologic morbidity.

Methods And Patients: Analysis of the postoperative neurologic status of infants younger than 6 months who underwent cardiac surgery from January 1998 to December 1999.

Left atrial filling volume can be used to reliably estimate the regurgitant volume in mitral regurgitation.

Objectives: The objective was to analyze the accuracy and diagnostic value of the estimated regurgitant volume of mitral regurgitation using 1) left atrial volume variation during ventricular systole (left atrial filling volume) and 2) the percent of systolic pulmonary vein velocity integral compared with its total.

Background: Left atrial filling volume (LAfill), which represents the atrial volume variation during ventricular systole, has been used for the assessment of mitral regurgitation severity. A good correlation with invasive semiquantitative evaluation was found, but with an unacceptable overlapping among grades.

Opposite effects of the remodeling of infarcted and non-infarcted myocardium on left ventricular function early after infarction in humans. An echocardiographic study in patients examined before and after myocardial infarction.

Objective: The purpose of this study was to evaluate infarction-related changes in the infarcted and the non-infarcted myocardium using a baseline assessment of ventricular function obtained prior to the infarction.

Background: Experimental studies have shown that both infarcted and non-infarcted myocardium contribute to the process of left ventricular dilatation soon after the infarction, but no data exist on the effect that the infarct has on the pre-infarct ventricular morphology in humans.

Methods And Results: 10 patients, out of 721 admitted to our coronary care unit with a first acute myocardial infarction over a 3-year period, had had an echocardiographic examination performed before (354 +/- 407 days) and after (10 +/- 9 days) the infarction which were adequate for quantitative evaluation.

Does prostaglandin E1 infusion affect the left ventricular filling pattern of end-stage dilated cardiomyopathy? A combined hemodynamic-echo Doppler study.

Prostaglandin E1 improves hemodynamics in patients with severe dilated cardiomyopathy and pulmonary hypertension through it's reducing action on pulmonary resistances. However, few data are available to indicate whether these beneficial effects on right heart hemodynamics translate into any improvement of the altered left ventricular filling pattern that characterizes this condition. We studied 12 patients with dilated cardiomyopathy during preoperative evaluation for cardiac transplantation before and after prostaglandin E1, 30-50 ng/kg/min i.