Alessia Cerutti

HeartWare Ventricular Assist Device as Bridge to Transplant in Children and Adolescents

Limited options do exist for mechanical circulatory support as a bridge to transplantation in the pediatric population. This is especially true when it comes to intracorporeal technologies. We describe our successful experience with the use of HeartWare ventricular assist devices (HeartWare, Inc., Framingham, MA, USA) in three patients <16 years of age, as a successful and feasible bridge to transplant in patients weighing greater than 20 kg.

A combination therapy to treat second-degree anti-Ro/La-related congenital heart block. A strategy to avoid stable third-degree heart block?

While mainly based on the use of fluorinated steroids, there is no standard management of anti-Ro/La-related congenital heart block (CHB). This is a report concerning two consecutive cases of anti-Ro/La-related second-degree block treated with betamethasone (4 mg/day), weekly plasmapheresis, and intravenous immunoglobulins (IVIGs; 1 g/kg) administered every 15 days, a therapy that was begun shortly after CHB was detected and continued until delivery. The newborns were also treated with IVIG (1 g/kg) soon after birth and continued fortnightly until the anti-Ro/La antibody levels became undetectable. In both cases second-degree AV block reverted to a stable sinus rhythm with a first-degree atrioventricular (AV) block. Moreover, there was no recurrence of CHB when therapy was suspended, as confirmed by a 29 month and an eight month follow-up, respectively.

Cardiac Operations After Patent Ductus Arteriosus Stenting in Duct-Dependent Pulmonary Circulation

BACKGROUND Stenting of the patent ductus arteriosus (PDA) has been recently introduced to palliate patients with duct-dependent pulmonary circulations. We evaluated the surgical outcome of patients who had a previous PDA stent, focusing on their pulmonary arteries status. METHODS This study included 15 patients (11 boys, 4 girls) who underwent cardiac operations after PDA stenting between August 2004 and April 2009. Outcomes included hospital mortality, morbidity, and need for reintervention or operation on the PDA and on the pulmonary artery branches. RESULTS Thirteen patients underwent elective cardiac operations at a median of 11 months (range, 0.3 months to 3.7 years) from PDA stenting. Two patients underwent emergency operations due to stent migration during percutaneous positioning. Six patients (46%) required a preoperative interventional cardiology procedure, including PDA stent dilatation in 5 and multiple left pulmonary artery dilatations in 1. During elective surgical repair, PDA stents were completely retrieved in 3 patients (23%) and partially removed in 10 (77%) due to the fusion of the stent to the vascular wall. Seven patients (53.8%) required surgical pulmonary artery plasty. One in-hospital death (6%) occurred after an emergency operation. Median follow-up was 16.7 months (range, 1 month to 2.5 years). Two late deaths (14%) occurred at 4 and 9 months. Four patients required additional interventional procedures on the left pulmonary artery after surgical repair. CONCLUSIONS Operations after PDA stenting are safe and low-risk. The presence of PDA stents requires additional surgical maneuvers on pulmonary arteries in near half of the patients, and postoperative interventions can be required.

ABO-incompatible heart transplantation: crossing the immunological barrier

Due to the shortage of organ donors, heart transplantation cannot be offered to many infants with end-stage heart failure; this issue leads to mortality rates of 30-50% in patients in the paediatric age group awaiting operation. ABO-incompatible heart transplantation has been performed safely with no particular or invasive preparatory procedures other than plasma exchange during cardiopulmonary bypass for removing preformed antibodies, with no reports of hyperacute rejection. We report our first clinical experience of heart transplantation on a 2-month-old-infant (blood group O), diagnosed with intracardiac tumour, in which the donor was a 19-day-old newborn of blood group A. Sharing the know-how about ABO-incompatible heart transplantation in newborns and infants awaiting transplantation will help in decreasing mortality among this group of patients.

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.

Pacemaker in complicated and refractory breath-holding spells: When to think about it?

BACKGROUND Breath-holding spells (BHS) are benign non-epileptic paroxysmal events of infancy, rarely occurring with high frequency and complicated by prolonged syncope, convulsions and even status epilepticus. In these cases response to medical treatment is often unsatisfactory. Pacemaker implantation is a possible therapeutic option, but its indications, efficacy and complications have not been clarified yet. OBJECTIVE To report a new case of BHS treated with pacemaker and to review its indications and efficacy in patients with severe BHS. METHODS We extensively searched the literature in PubMed on cardiac pacing in patients with BHS and we described a new case. RESULTS A previously healthy boy presented at the age of 4 months with frequent BHS inconstantly associated to prolonged syncope and post-anoxic non-epileptic and epileptic seizures. Parental reassurance, iron supplementation and piracetam were ineffective. After cardiac pacing at the age of 16 months, BHS and their complications disappeared. We identified 47 patients with BHS treated with pacemaker in the literature. Based on the available data, in all patients asystole or marked bradycardia were documented during BHS or stimulating maneuvers; syncope complicated BHS in 100% of cases and post-anoxic convulsions in 78.3%. Medical treatment before pacing, when administered, was ineffective or poorly tolerated. After pacing, BHS complications disappeared in 86.4% of cases, and decreased in 13.6%. Technical problems with the device were reported in 25.7% of patients and mild medical complications in 11.4%. CONCLUSIONS Pacemaker could be reasonably considered in subjects with frequent and severe BHS, poor response to medications, and demonstration of cardioinhibition during spells.

Protein-losing enteropathy after fontan operation: treatment with elementary diet in one case.

Protein-losing enteropathy (PLE) occurs in 3% to 10% of patients after Fontan-type surgery for complex congenital heart disease [1, 3]. A high mortality rate (46%) and failure of medical therapy have led to either baffle fenestration or heart transplantation (4). Some authors initially had promising results with heparin therapy (2). We report a case of a child with single left ventricle, transposition of the great arteries, and interrupted aortic arch with mild hypoplasia of the ascending aorta. Bidirectional cavopulmonary connection and total cavopulmonary connection were performed at 7 and 23 months, respectively, both with unremarkable course. Five months later the patient developed hypoproteinemia (35 g/L) with a high level of protein loss in random stool sample ( 1 antitrypsin, 94 mg/dl; n.v. < 5); normal lymphocytes count and peripheral edema were noted. Cardiac catheterization showed excellent hemodinamics: pulmonary mean artery pressure was 9 mmHg, with similar pressure values in inferior (8 mmHg) and superior (9 mmHg) vena cava. Esophagogastroduodenoscopy was performed, and duodenal biopsy showed “very enlarged lymphatic vessels of lamina propria and space enlargement between cells, with normal epithelial cells of criptae.” The diagnosis of lymphangiectasia was confirmed by electronic microscopy. After a period of nutrition with a high dose of proteins and MCT oil, the child was placed on an elementary diet—daily spironolactone (100 mg) and furosemide (12.5 mg) twice a week (body weight 14 kg). Clinical state did improve slowly, and 5 months later the level of serum protein was 65 to 70 g/L and there was normal fecal 1 antitrypsin (4.5 mg/dl). Furosemide was stopped and diet with a high dose of protein and MCT oil was restarted. A second biopsy confirmed the clinical improvement. After 18 months, during an episode of gastroenteritis, hypoproteinemia (38 g/L) and a high level of protein in stool sample ( 1 antitrypsin, 105 mg/dl) occurred. The duodenal biopsy was normal and in a couple of months the values were again normal without therapy. After 3.5 years of follow-up, clinical state is still good, the body growth is normal, the values of serum protein and lymphocytes are within normal limits, and a fourth duodenal biopsy performed is normal. It is remarkable that our patient did not show linphocytopenia; this is possibly because of the integrity of the mucosae that allowed the leakage of protein and serum but not of corpuscolated elements. In conclusion, in our experience a long-term and satisfying follow-up is possible with rigorous diet only. Serial evaluation of alfa 1 AT in random stool sample is an accurate and noninvasive method for monitoring PLE after Fontan operation.

Traumatic aortic dissection in a boy with Loeys-Dietz syndrome.

A 9-year-old boy was admitted to the emergency department for interscapular chest discomfort. Bidimensional echocardiography revealed a severe aortic root and sino-tubular junction dilatation with a suspicion of intimal flap at the aortic isthmus and a pseudo-aneurysm which was confirmed by a computerized tomography scan. The patient was immediately transferred to the operating room for an emergent replacement of the aortic isthmus. His recovery after surgery was uneventful, and he was discharged home 12 days later on beta blockers and angiotensin II receptor antagonist. A genetic recognition confirmed the diagnosis of Loeys-Dietz syndrome type I.

Heart transplantation in pediatric age

Heart transplantation, formerly the final option for terminally ill children, has now become the treatment of choice for a number of serious acquired or congenital cardiac conditions, which cannot be treated conservatively. Nevertheless, several problems remain unsolved. First of all the shortage of donors, mainly in the first months and years of life, which has become more and more significant with time, regardless of the country, religious belief or culture of the people. Secondly, the long-term impact of immunosuppression in a developing organism, and its possible inter-relation with the primary disorder, which leads to intractable heart failure. Whether a heart transplant is a cure or an ongoing disease for both the child and the family is another matter of concern. These and other topics are covered in this article.