Investigation of atrial mass by multi-imaging and biopsy.

The authors describe the case of a child with a history of relapsed acute lymphoblastic leukaemia with a giant intra-auricular lymphomatous mass, submitted to investigation by multiple imaging methods and biopsy.

Fetal Tuberous Sclerosis: Sirolimus for the Treatment of Fetal rhabdomyoma.

BACKGROUND: Sirolimus constitutes a safe and effective treatment for cardiac manifestations of tuberous sclerosis complex (TSC) in children but only four cases describing prenatal treatment of rhabdomyomas with mTOR inhibitors have been published. CASE: In this case, sirolimus was initiated at 26 weeks´ gestation in a pregnant woman with TSC with a fetus with a large rabdomyoma conditioning severe arrythmia. There was a significant reduction in the tumor size with ongoing treatment and a partial reversion of the arrythmia. CONCLUSION: m-TOR inhibitors can be considered for severe cases of fetal rhabdomyomas with poor prognosis given its potencial benefits.

Sinus node disfunction in an adolescent with systemic lupus erythematosus.

Cardiac involvement in systemic lupus erythematosus (SLE) is well documented. The pericardium, myocardium and endocardium, as well as the coronary arteries, the valves and the conduction system can all be affected. While pericarditis is common, arrythmias are less frequently described.We present a 13-year-old male, who had fatigue, anorexia, weight loss, myalgias and arthralgias for four months. On physical examination, we identified bradycardia (heart rate 31-50 bpm), oral and nasal ulcers and polyarthritis. The laboratory results showed hemolytic anemia, hypocomplementemia, antinuclear and anti-dsDNA antibodies, hematuria and non-nephrotic proteinuria. Renal function was normal. Lupus nephritis class II was diagnosed by kidney biopsy. On the transthoracic echocardiogram we identified a minimal pericardial effusion, suggesting pericarditis, and, on the electrocardiogram, we detected sinus arrest with junctional rhythm, denoting sinus node dysfunction. The patient was diagnosed with juvenile SLE with cardiac, renal, musculoskeletal and hematologic involvement. Disease remission and cardiac rhythm control were obtained with steroids and mycophenolate mofetil. Currently, the patient is asymptomatic, with normal sinus rhythm.We described an adolescent with SLE who had sinus node dysfunction upon diagnosis. Other cases have been reported in adults but none in juvenile SLE. All SLE patients should have a thorough cardiac examination to promptly diagnose and treat the innumerous cardiac manifestations of this disease.

Stunned myocardium after an anesthetic procedure in a pediatric patient - case report. / Síndrome Takotsubo após procedimento anestésico em idade pediátrica - um caso clínico.

Takotsubo syndrome (TTS) is an acquired transient type of systolic dysfunction which mimics myocardial infarction clinically and electrocardiographically. TTS is also known as stress cardiomyopathy, broken heart syndrome, apical ballooning, reversible acute heart failure, neurogenic stunned myocardium or acute catecholamine cardiomyopathy. This case report describes an uncommon presentation of myocardial stunning after an anesthetic procedure. A 14-year-old girl with a history of pineal cyst and hemiplegic migraine was admitted for control brain magnetic resonance imaging. During anesthesia induction with propofol she suffered bradycardia, which was reversed with atropine, followed by tachyarrhythmia, reversed with lidocaine and precordial thump. Within hours she developed pulmonary edema and global respiratory failure due to acute left ventricular dysfunction. A transthoracic echocardiogram showed a dilated left ventricle with global hypokinesia and depressed left ventricular systolic function (ejection fraction <30%). The electrocardiogram showed persistent sinus tachycardia and nonspecific ST-T wave abnormalities. Cardiac biomarkers were elevated (troponin 2.42 ng/ml, proBNP 8248 pg/ml). She was placed on diuretics, angiotensin-converting enzyme inhibitors, digoxin and dopamine. The clinical course was satisfactory with clinical, biochemical and echocardiographic improvement within four days. Subsequent echocardiograms showed no ventricular dysfunction. The patient was discharged home on carvedilol, which was discontinued after normalization of cardiac function on cardiac magnetic resonance imaging. Few cases of TTS have been described in children, some of them triggered by acute central nervous system disorders and others not fulfilling all the classical diagnostic criteria. In this case the anesthetic procedure probably triggered the TTS.

Atrioventricular block related to liposomal amphotericin B.

Atrioventricular block can occur in normal children, young adults or athletes. It is also associated with underlying heart disease or occurs as a drug adverse effect. Amphotericin B is used in the treatment of invasive fungal infections. Cardiac toxicity is a rare adverse reaction. We report the case of a 9-month girl, admitted in the paediatric intensive care unit with cytomegalovirus pneumonitis. During hospitalisation the patient developed a systemic fungic infection and was medicated with liposomal amphotericin B. On the third day of treatment she began repeated episodes of bradycardia with spontaneous reversion. The investigation revealed a second-degree atrioventricular block. We excluded the misplacement of the central catheter, myocarditis or structural cardiomyopathy and suspended amphotericin. After 8 days, the bradycardia episodes ceased what was consistent with the drug's half-life. Amphotericin cardiotoxic mechanism is still unclear. It may be related with alteration of myocardial membrane depolarisation.

Mitro-aortic aneurysms in children: single-centre experience and review of the literature.

OBJECTIVES: This publication aims to report the cases of four children with pseudoaneurysm of the mitral-aortic intervalvular fibrosa and carry out a review of the literature. BACKGROUND: Pseudoaneurysm of the mitral-aortic intervalvular fibrosa is a very rare anomaly in children. It can be either congenital or acquired, namely, after bacterial endocarditis or cardiac trauma. This pathology does not usually cause specific symptoms but its outcome may be potentially fatal. METHODS: We report the cases of four patients presenting with pseudoaneurysm of the mitral-aortic intervalvular fibrosa, referred for treatment in a paediatric cardiology clinic. Patient clinical notes were retrospectively reviewed for aetiology, clinical presentation, diagnostic work-up, surgical treatment, and follow-up. Literature on the subject was extensively reviewed. RESULTS: In three patients, pseudoaneurysm of the mitral-aortic intervalvular fibrosa was acquired, being secondary to bacterial endocarditis in two cases and establishing after mitral surgery in another case. The remaining patient had a "congenital" aetiology - no other cause could be traced. The diagnosis was achieved by transthoracic echocardiography for all patients, and confirmed in all by trans-oesophageal echocardiography, to better define morphological details and to access flow into the aneurysmal formation. All patients were submitted to corrective cardiac surgery. Of the patients, three survived and were cured by surgery, staying asymptomatic, and one died after repeated interventions, for persistent endocarditis. CONCLUSIONS: Pseudoaneurysm of the mitral-aortic intervalvular fibrosa is a rare but potentially fatal anomaly. In our experience, surgical cure was achieved for the majority of the cases, except for a case for which infection could not be locally eradicated, leading to multiple reinterventions.

[Quadricuspid aortic valve--10-year case series and literature review]. / Válvula aórtica quadricúspide--casuística de 10 anos e revisão da literatura.

INTRODUCTION: Quadricuspid aortic valve is a rare malformation, with an estimated incidence of 0.003 to 0.043% of all congenital heart disease. It usually appears as an isolated congenital anomaly, but may also be associated with other malformations, the most common being coronary artery anomalies. Current technology enables noninvasive diagnosis in most cases. This entity's natural history is progression to valve regurgitation, which is rare before adulthood. OBJECTIVE: Case review of quadricuspid aortic valve patients diagnosed in the last 10 years in a tertiary pediatric cardiology center. METHODS: Retrospective chart review of patients diagnosed with quadricuspid aortic valve between January 2000 and December 2009. RESULTS: Over the past 10 years, four cases of quadricuspid aortic valve were diagnosed in children aged between 6 months and 8 years, two male. In three cases, the four leaflets were of similar size, which is the most common finding. Two of the valves functioned normally and two had minimal regurgitation. All patients had associated cardiac malformations (one atrial and two ventricular septal defects, one supravalvular aortic stenosis and one quadricuspid pulmonary valve). One patient was also diagnosed with Williams syndrome. During a median follow-up of 2 years (0-9), all patients remained asymptomatic and none required medical or surgical treatment of the aortic valve. CONCLUSION: Diagnosis of quadricuspid aortic valve is rare, especially in children, since most patients are asymptomatic and have normally functioning valves. In this study, half the patients had minimal aortic regurgitation. Contrary to what is described in the literature, all patients had concomitant cardiac malformations. We provide the first description of this entity's association with Williams syndrome. Clinical follow-up should be maintained in these patients in order to promptly detect the onset or worsening of functional alterations and to enable appropriate therapeutic intervention.

[Importance of primary indications for fetal echocardiography proposed by the Portuguese Health Department]. / Validação da importância dos critérios de referenciação propostos pela direcção geral de saúde para realização de ecocardiografia fetal.

BACKGROUND: Congenital heart disease is the most frequent congenital malformation, affecting about 5-8 newborn per thousand live births. Nowadays it is possible to do prenatal diagnosis of these conditions with fetal echocardiography (EcoF) but because health resources are limited this exam must be ordered according to the criteria established by the Portuguese Health Department. AIMS: Evaluate the importance of the referral criteria for fetal echocardiography attending to the cardiac anomalies identified. To determine prevalence and mortality rates in fetus with cardiac anomalies. METHODS: Retrospective analysis of the clinical records of 733 fetus to which was performed EcoF in the Prenatal Cardiology consultation of a tertiary center of Pediatric Cardiology, between 2006 and 2008. Were registered demographic data, referral motif, EcoF results and follow-up data. The referral motif was classified in two groups: (I) The "Risk Group"--which referral was consistent with the Health department indications and this included major causes (family, maternal, fetal) and minor causes (other situations), and the "No risk Group" (II)--which referral wasn't consistent with those indications. RESULTS: During this period were performed 871 fetal echocardiograms to 705 pregnant women. The median maternal age was 32 years (15-45 years) and mean gestational age was 26 weeks (± 4 wk). The "Risk group" included 89.5% of the sample. Were identified 52 cases (7%) with cardiac anomalies in fetal echocardiography: 42 structural anomalies, 8 rhythm anomalies and 2 pericardial effusions. These abnormalities were distributed as follows: "Risk Group"--family cause (3), maternal cause (3), fetal cause (39), minor cause (5) and "No Risk Group" (2). The "Risk Group" had more cardiac abnormalities (6.8% vs 0.3%) (p>0.05), specially the "fetal cause subgroup" (p<0.05). Were missed on follow up 10 positive cases, there was 3 medical pregnancy interruptions and 3 children died. Eleven positive cases maintain follow-up on Pediatric Cardiology consultation. CONCLUSIONS: Most of the cases fulfilled the referral criteria established by the Health Department, but there was no statistically significant difference in the prevalence of fetal cardiac anomalies in pregnant women with and without risk factors. The fetal cause was the best related to the presence of cardiac disease. The prevalence of cardiac anomalies and the mortality rate may be underestimated in this sample due to the loss of positive cases in the follow-up.

Aortopulmonary window. Experience of eleven cases.

Aortopulmonary (AP) window is a communication between the ascending aorta and the main pulmonary artery, in the presence of two separate arterial valves arising from separate subarterial ventricular outflow tracts. It is a rare anomaly that accounts for approximately 0.1% to 0.2% of all congenital heart disease. The purpose of this study was to assess clinical features, surgical treatment and outcome of patients with aortopulmonary window referred to a tertiary pediatric cardiac center over a 30-year period. Eleven patients were diagnosed with AP window, ten with the proximal type and one with the distal type defect. Age at first evaluation ranged from three days to 13 years (mean 44.5+/-63.3 months; median three months). Echocardiography enabled correct diagnosis in the four most recent cases. Seven patients underwent closure of the AP window through a transaortic approach and three patients underwent ligation. Simultaneously, significant associated cardiac anomalies were corrected in three patients: correction of interrupted aortic arch in two patients and closure of ventricular septal defect and Dacron patch enlargement of the right ventricular outflow tract in one patient. One patient was not operated because of fixed high pulmonary vascular resistance. Operative mortality was 10% (1/10) and there were no late deaths. Mean follow-up was 10+/-4.9 years. All nine surviving operated patients are asymptomatic, without medication, with no residual defects and without pulmonary hypertension. In conclusion, advances in diagnostic and surgical approaches to AP window in recent years have enabled earlier intervention with good outcome.

Sotalol in the treatment of fetal tachyarrhythmia.

BACKGROUND: Fetal tachycardia is an uncommon condition that if sustained may lead to fetal death. There is no consensus regarding the optimum treatment. The aim of this study was to evaluate the safety and efficacy of sotalol in the treatment of fetal tachycardia. METHODS: This was a retrospective study of patients treated for fetal tachycardia with sotalol in a pediatric cardiology department over a ten-year period. RESULTS: There were eight fetuses treated for supraventricular tachycardia and sotalol was used in six of them. Mean gestational age was 30 weeks. None of them had congenital heart disease; two fetuses had hydrops and one had hydrocephalus. All had supraventricular tachycardia and two had atrial flutter. Drug treatment was successful in establishing sinus rhythm in five of the six fetuses treated with sotalol and no adverse effects were recorded in the mothers. There were no deaths. Supraventricular tachycardia was present in three infants at birth. CONCLUSIONS: In this study sotalol was successful and safe in the treatment of fetal tachycardia, but given the small sample size, more studies are needed to validate this conclusion.

Hypoplastic left heart syndrome with in utero closed foramen ovale: case report.

We report a case of a newborn with a prenatal diagnosis of hypoplastic left heart syndrome (HLHS), referred at 37 weeks of gestation. The fetal echocardiogram had shown classic morphologic aspects of HLHS with patent mitral valve and aortic valve atresia. The atrial septum was thickened and the foramen ovale (FO) appeared to be patent. It was a normal full-term delivery, with birth weight of 2540 g. Orotracheal intubation and mechanical ventilation were immediately necessary, as well as intravenous prostaglandin, due to clinical deterioration. Transthoracic echocardiography performed in the first hour of life confirmed the diagnosis, but doubts were raised about the patency of the FO. Cardiac catheterization was performed and Rashkind balloon atrial septostomy was attempted, without success. The baby died and pathologic examination revealed HLHS with intact atrial septum, dilated coronary sinus and pulmonary lymphangiectasia. In this case, the dilated coronary sinus led to a mistaken prenatal diagnosis of FO patency with left-to-right shunt.

Subaortic stenosis following anatomic correction for transposition of the great arteries.

The authors present a case report of a 12-year-old boy with diagnosis of transposition of the great arteries and ventricular septal defect, who underwent an arterial switch operation plus closure of the septal defect. On follow-up, left ventricular outflow tract obstruction was detected, initially mild. Last year, he started complaining of fatigue on exercise. Severe subaortic stenosis was diagnosed and surgical repair was performed with good results. Subaortic stenosis is a rare complication on follow-up of patients who have undergone an arterial switch operation, particularly those with transposition of the great arteries and ventricular septal defect.