Elena Reffo

Giant Intramural Left Ventricular Rhabdomyoma in a Newborn

A 1-day-old newborn was referred with prenatal echocardiographic diagnosis of cardiac mass. Born by caesarean section at 38+3 weeks of pregnancy, he presented with cyanosis and bradycardia at birth, requiring immediate intubation and mechanical ventilation. Chest x-ray demonstrated cardiomegaly with a cardiothoracic index of 0.7 (Figure 1). Echocardiographic examination (Figure 2 and Movie I in the online-only Data Supplement) confirmed the diagnosis of a large cardiac mass located at the posterior wall and at the apex of the left ventricle (LV). The child presented with several episodes of paroxysmal supraventricular tachycardia, which were treated with DC shock and various pharmacological agents, such as amiodarone, adenosine, flecainide, digoxin, and metoprolol, and 1 episode of ventricular fibrillation with cardiac arrest requiring resuscitation. MRI showed a single large mass (5.5×5 cm) arising from the left atrioventricular groove and extending to the LV lateral wall and apex, up to the interventricular septum, with no LV inflow or outflow obstruction, and was suggestive …

Arterial Tortuosity Syndrome: homozygosity for two novel and one recurrent SLC2A10 missense mutations in three families with severe cardiopulmonary complications in infancy and a literature review.

BackgroundArterial Tortuosity Syndrome (ATS) is a very rare autosomal recessive connective tissue disorder (CTD) characterized by tortuosity and elongation of the large- and medium-sized arteries and a propensity for aneurysm formation and vascular dissection. During infancy, children frequently present the involvement of the pulmonary arteries (elongation, tortuosity, stenosis) with dyspnea and cyanosis. Other CTD signs of ATS are dysmorphisms, abdominal hernias, joint hypermobility, skeletal abnormalities, and keratoconus. ATS is typically described as a severe disease with high rate of mortality due to major cardiovascular malformations. ATS is caused by mutations in the SLC2A10 gene, which encodes the facilitative glucose transporter 10 (GLUT10). Approximately 100 ATS patients have been described, and 21 causal mutations have been identified in the SLC2A10 gene.Case presentationWe describe the clinical findings and molecular characterization of three new ATS families, which provide insight into the clinical phenotype of the disorder; furthermore, we expand the allelic repertoire of SLC2A10 by identifying two novel mutations. We also review the ATS patients characterized by our group and compare their clinical findings with previous data.ConclusionsOur data confirm that the cardiovascular prognosis in ATS is less severe than previously reported and that the first years of life are the most critical for possible life-threatening events. Molecular diagnosis is mandatory to distinguish ATS from other CTDs and to define targeted clinical follow-up and timely cardiovascular surgical or interventional treatment, when needed.

Medical and surgical management of primary cardiac tumours in infants and children.

Primary cardiac tumours in infants and children are extremely rare, with an estimated incidence of 0.2% according to echocardiographic studies. Owing to their rarity, there is very little literature available, and most knowledge is based on collections of case reports. Therefore, we reviewed retrospectively our 27 years of clinical experience on the overall management of cardiac tumours among children in order to improve not only our knowledge but also to provide others with information about the incidence, clinical presentation, management, and long-term outcome of this rare disease. Between April, 1982 and April, 2009, 52 children were diagnosed with cardiac tumours at our Institution. Medical records and follow-up echocardiographic evaluations were studied. The diagnosis was prenatal in 35% of the patients. The most frequent tumour types were rhabdomyomas (61.5%), fibromas (15.4%), and myxomas (5.8%). There were no cases of primary malignant tumours. All diagnoses were achieved using two-dimensional echocardiography, and for 12 patients a pathological analysis was carried out. A total of 41 patients (79%) were managed medically, whereas 11 (21%) patients underwent surgical treatment. At a mean follow-up of 7.2 ± 5.4 years, two patients died of complications related to cardiac transplantation; all the remaining patients are in excellent clinical condition. In conclusion, cardiac tumours in paediatric practice are usually clinically and histologically benign. Only a few cases need surgery. Up to one-third of the cardiac masses are detectable prenatally. Rhabdomyoma is the most common histotype, followed by fibroma and myxoma. The long-term prognosis is generally good.

Two-dimensional and real-time three-dimensional echocardiographic fetal diagnosis of aorto-ventricular tunnel

A 22-gestational-week-old female fetus was referred to our prenatal echocardiographic unit to evaluate her left ventricular dilatation and dysfunction. An aorto-ventricular tunnel was visualized (Figure 1a and 1b), causing marked left ventricular diastolic overload, overt fetal heart failure, hydrops, and polidramnios. The mother was informed about the possibility of spontaneous abortion or premature delivery, and the pregnancy was closely monitored with serial fetal echographic and echocardiographic evaluations. At 33 weeks of gestational age (GA), the signs of fetal heart decompensation were still present, but the fetus’ vitality and growth …

Intraoperative Diagnosis of Bilateral Coronary Ostia Stenosis: A Rare Case of Ischemic Heart Disease in a 3-Month-Old Patient

We report a case of a 3-month-old child, presenting with signs of myocardial ischemia and hemodynamic instability, requiring extracorporeal membrane oxygenation support. Due to the unclear preoperative instrumental findings, a surgical exploration was performed revealing the presence of coronary ostia stenosis and an intramural course of both coronary arteries. The child underwent a successful plasty of the coronary artery ostia by resecting the excessive obstructing fibrous tissue followed by unroofing of the intramural coronary artery course with restoring of a normal myocardial perfusion and function.

Congenital heart disease in adults: an 8-year surgical experience in a medium-volume cardiac center.

Objectives We report our 8-year experience with surgery for congenital heart disease in adults in a medium-volume surgical center. Methods We collected data of 161 consecutive patients who underwent 230 procedures from January 1997 to December 2004. Surgical procedures were divided into two groups: repair (85.7%) and reoperation (14.3). Results There was only one in-hospital death (Fontan revision, in reoperation group). At a mean follow-up time of 56 ± 30 months, overall freedom from any kind of complication is 76.5%. Cox analysis showed that incremental risk factors were preoperative cyanosis, reoperation, and length of ICU stay (hazard ratio = 4.47, 3.34 and 1.49, respectively; P < 0.001 in all), whereas decremental risk factors were preoperative New York Heart Association class 1 (hazard ratio = 0.328, P < 0.001) and surgery for ‘septal defect’ (hazard ratio = 0.26, P = 0.02). Conclusion Surgery for congenital heart disease in adults seems to be an overall well-tolerated and a low-risk treatment, with overall good mid-term clinical results.