Giuseppe Balducci

NEOPLASTIC DISEASE AND DELETION 22q11.2: A MULTICENTRIC STUDY AND REPORT OF TWO CASES

Deletion 22q11.2 is a chromosomal abnormality detected in young patients with clinical manifestations of the DiGeorge/velocardiofacial syndrome. Conotruncal heart defects are also associated with del22q11.2. An association of these cardiac malformations with neoplasias has been observed. Our series includes two cases of malignancies, a hepatoblastoma and a renal-cell carcinoma, arising in children with complex cardiac malformations. The aim of the study was to determine if the deletion at 22q11.2 was present and could be responsible for both pathological processes. Del22q11.2 was identified in both cases. Comparative genomic hybridization revealed terminal gains on chromosomes 1q and Xq and terminal loss on 1p in the hepatoblastoma, and gains in 1p, 12q, 16p, 20q, 22q, and whole chromosome 19 and loss of Xq in the renal-cell carcinoma. Our results confirm a common genetic basis for cardiac malformations, and del22q11.2 presents a risk factor for the development of pediatric tumours.

Absent Right and Persistent Left Superior Vena Cava: Fetal and Neonatal Echocardiographic Diagnosis

Absence of the right superior vena cava (SVC) is a rare event occurring in patients without congenital cardiovascular abnormalities. Since absence of the right SVC is usually clinically silent, its diagnosis is mandatory prior to invasive medical or surgical procedures. We report two cases of echocardiographic diagnosis of absence of the right SVC with persistent left SVC and a large coronary sinus in structurally normal heart in a fetus of 20 weeks’ gestation and in a newborn. The diagnosis was confirmed by transthoracic contrast echocardiography with intravenous injection of agitated saline into the right arm.

Cardiac function in congenital hypothyroidism: Impairment and response to L-T4 therapy

SummaryElectrocardiograms (heart rate, QRS voltage, QRS axis in the frontal plane, Q-Tc interval), echocardiograms [left ventricular fractional shortening (LVFS); preejection period (PEP); PEP/left ventricular ejection time (PEP/LVET) ratio; end-diastolic left ventricular free wall and interventricular septum thickness; presence of pericardial effusion], and thyrotropin (TSH), thyroxine (T4), and triiodothyronine (T3) serum levels were evaluated before and 1 week, 1 and 2 months after the start ofl-thyroxine (L-T4) therapy in 11 infants with congenital hypothyroidism (CH), aged 16–59 days when first seen.Before the start of therapy, infants with CH had significantly lower QRS complexes and LVFS and significantly higher values for Q-Tc, PEP, and PEP/LVET than normal infants of the same age. The QTc interval, PEP and PEP/LVET ratio of infants with CH were significantly greater before than 1 week after L-T4 therapy, and LVFS was significantly lower before than 1 month after L-T4 therapy. Four of the infants with CH had small pericardial effusions, which disappeared within the first week of therapy.QRS axis in the frontal plane, Q-Tc interval, and PEP were negatively correlated with logT4 and logT3 serum levels. PEP/LVET ratios were negatively correlated with logT4 serum values. The QRS voltage values were positively correlated with logT4 and logT3 serum values. The frontal-plane QRS axis, Q-Tc interval, and PEP/LVET ratio were positively correlated with logTSH serum levels. The QRS voltages were negatively correlated with TSH serum levels.Our data show that before therapy infants with CH have the same functional, but not morphological, abnormalities as older hypothyroid ones and that one third of them have small pericardial effusions. L-T4 therapy rapidly reverses these changes.

Ebstein's Malformation of the Mitral Valve in Atrioventricular and Ventriculoarterial Concordance

SummaryClinical and pathological data of a full-term male newborn with Ebsteins malformation of the mitral valve are reported. Moderate cyanosis and progressive heart failure were present from birth and he died on the fourth day after birth, with clinical evidence of severe aortic coarctation. Necropsy revealed a severely dysplastic mitral valve, with anatomical features of Ebsteins anomaly, in the absence of corrected transposition but associated with aortic coarctation.

Minimally Invasive Epicardial Ablation of Lone Atrial Fibrillation in Pediatric Patient

We describe a case of epicardial surgical ablation of drug refractory lone atrial fibrillation in a pediatric patient. Minimally invasive radiofrequency equipment was used off-pump through a right mini-thoracotomy. Electrical isolation of the pulmonary veins cuffs was obtained. The preoperative electrophysiological study identified a macro re-entrant circuit around the pulmonary veins orifices as the mechanism of arrhythmia triggering. At follow-up, the patient is in stable sinus rhythm and there is no evidence of pulmonary vein stenosis. The minimally invasive, off-pump ablation of lone atrial fibrillation is feasible and reliable, even in children who may pose incremental technical challenges. This technique may represent an additional tool for the current treatment algorithms to treat lone atrial fibrillation.

Anatomical Model at Risk of Coarctation of the Pulmonary Artery

DOI:€10.1016/j.athoracsur.2007.09.030 Ann Thorac Surg 2008;85:1505 Tagliente, Paolo M. Arciprete and Luigi de Luca Tupputi Schinosa Dario E. Troise, Giovanna Favia Guarnieri, Giuseppe Balducci, Maria RosariaAnatomical Model at Risk of Coarctation of the Pulmonary Artery http://ats.ctsnetjournals.org/cgi/content/full/85/4/1505 located on the World Wide Web at: The online version of this article, along with updated information and services, is

Delayed Closure of the Ductus Arteriosus in Term Newborns with Congenital Hypothyroidism: Effect of l-Thyroxine Therapy

Congenital hypothyroidism is associated with an increased incidence of congenital defects (15.6%), frequently involving the heart (5.8%). Only a few studies have evaluated the association between congenital hypothyroidism and patent ductus arteriosus. We report on two term newborns affected by thyroid agenesis and patent ductus arteriosus that closed after starting l-thyroxine substitutive therapy. This association suggests a close relation between hypothyroidism and patent ductus arteriosus. Hypothyroidism should be considered in term infants with patent ductus arteriosus, because thyroid hormone production is among the prerequisites for postnatal ductal closure.

Experience with first level ultrasound and echocardiography for a selected and an unselected population

Abstract Objective: To evaluate the difference in prevalence, distribution and prenatal detection rate of congenital heart disease (CHD) in both newborns and second trimester termination of pregnancy (TOP) in two separate time periods. Patients and methods: At the University Hospital of Bari, an observational study was performed, which included all cases of CHD in newborns and second trimester TOP during the periods 1998–99 and 1992–93. Prevalence, distribution and prenatal diagnosis in each group were evaluated, also selecting cases with and without known risk factors. Results: Prevalence of CHD in livebirths and aborted fetuses did not change between the two periods and the same was observed for distribution of CHD spectrum. In the more recent period antenatal detection of CHD significantly increased only in TOP. Moreover, classifying all cases as low or high risk, detection rates were significantly increased in high risk cases while they were unchanged in the general population. Conclusion: Our data show that antenatal detection of CHD is ameliorated by concentrating expertise and good equipment on high risk cases, while it remains low in the general