Nana Miura

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Background To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD). Objective To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS. Methods The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed. Results CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients. Conclusion Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.

Holt-Oram syndrome: novel TBX5 mutation and associated anomalous right coronary artery.

The Holt-Oram syndrome was confirmed in an asymptomatic 36-year-old man by a novel TBX5-gene mutation (exon 8 acceptor splicing site, c.663-1G greater than A). Computed tomography showed an atrial septal defect and an anomalous right coronary artery crossing between the aorta and pulmonary arteries. Surgery corrected the septal defect and the initial segment of the anomalous vessel was unroofed and enlarged. Anomalous coronary arteries were not previously described in the Holt-Oram syndrome patients and should be added to the list of possible associated cardiac defects.

Post-cardiotomy ECMO in pediatric and congenital heart surgery: impact of team training and equipment in the results.

Introduction Post-cardiotomy myocardial dysfunction requiring mechanical circulatory support occurs in about 0.5% of cases. In our environment, the use of extracorporeal membrane oxygenation has been increasing in recent years. Objective To evaluate the impact of investment in professional training and improvement of equipment in the rate of weaning from extracorporeal membrane oxygenation and survival. Methods A retrospective study. Fifty-six pediatric and/or congenital heart patients underwent post-cardiotomy extracorporeal membrane oxygenation at our institution between November 1999 and July 2014. We divided this period into two phases: phase I, 36 cases (before the structuring of the extracorporeal membrane oxygenation program) and phase II, 20 cases (after the extracorporeal membrane oxygenation program implementation) with investment in training and equipment). Were considered as primary outcomes: extracorporeal membrane oxygenation weaning and survival to hospital discharge. The results in both phases were compared using Chi-square test. To identify the impact of the different variables we used binary logistic regression analysis. Results Groups were comparable. In phase I, 9 patients (25%) were weaned from extracorporeal membrane oxygenation, but only 2 (5.5%) were discharged. In phase II, extracorporeal membrane oxygenation was used in 20 patients, weaning was possible in 17 (85%), with 9 (45%) hospital discharges (P<0.01). When the impact of several variables on discharge and weaning of extracorporeal membrane oxygenation was analyzed, we observe that phase II was an independent predictor of better results (P<0.001) and need for left cavities drainage was associated with worse survival (P=0.045). Conclusion The investment in professional training and improvement of equipment significantly increased extracorporeal membrane oxygenation results.

Outcomes of aortic coarctation surgical treatment in adults

OBJECTIVE The aim of this study is to describe our experience in aortic coarctation surgery in adult patients by assessing the immediate and mid-term outcomes. METHODS From January 1987 to March 2000, 50 consecutive adult patients underwent surgery for correction of aortic coarctation, through left lateral thoracotomy. Of these, forty two (84%) patients presented high blood pressure, with mean systolic arterial pressure of 170.56 mmHg (125-220 mmHg). The mean of pressure gradient in the coarctation area was 51.4 mmHg (18-123 mmHg). Other associated surgical cardiovascular diseases were not treated in the same operative act, except in two cases of patent ductus arteriosus (PDA). Three different techniques were used: aortic coarctation resection with end-to-end anastomosis was performed in 20 (40%) patients, coarctation enlargement with bovine pericardial patch was performed in 22 (44%) patients and synthetic tube interposition was performed in eight (16%) patients. RESULTS Operative morbidity was low; there was one case of bleeding who required reoperation. The most common immediate postoperative event was high blood pressure (98%), but it was easily controlled by intravenous drugs. There was no hospital death. Mean residual pressure gradient was 18.7 (8-33 mmHg). Patients were discharged in 9.5 days (5-30). Postoperative follow-up mean was 46.8 months (1-145 months) in 45 (91.8%) patients. Forty one (91.1%) of these followed-up patients had normal blood pressure, whereas 75.6% of them without drugs intake. 93.3% of these followed-up patients were asymptomatic. Four of them required further surgical operation, one needed a pacemaker implant, other two patients needed a cardiac valve replacement and one had endocarditis. There was one related death due to sepsis secondary to endocarditis. CONCLUSION Surgical treatment of aortic coarctation, even in adult patients, is an efficient therapeutic choice, regardless of the applied surgical technique, with low morbidity and mortality. It reduces efficiently the arterial pressure levels in both immediate and mid-term follow-up.

Use of Short-term Circulatory Support as a Bridge in Pediatric Heart Transplantation

Background Heart transplantation is considered the gold standard therapy for the advanced heart failure, but donor shortage, especially in pediatric patients, is the main limitation for this procedure, so most sick patients die while waiting for the procedure. Objective To evaluate the use of short-term circulatory support as a bridge to transplantation in end-stage cardiomyopathy. Methods Retrospective clinical study. Between January 2011 and December 2013, 40 patients with cardiomyopathy were admitted in our Pediatric Intensive Care Unit, with a mean age of 4.5 years. Twenty patients evolved during hospitalization with clinical deterioration and were classified as Intermacs 1 and 2. One patient died within 24 hours and 19 could be stabilized and were listed. They were divided into 2 groups: A, clinical support alone and B, implantation of short-term circulatory support as bridge to transplantation additionally to clinical therapy. Results We used short-term mechanical circulatory support as a bridge to transplantation in 9. In group A (n=10), eight died waiting and 2 patients (20%) were transplanted, but none was discharged. In group B (n=9), 6 patients (66.7%) were transplanted and three were discharged.The mean support time was 21,8 days (6 to 984h). The mean transplant waiting list time was 33,8 days. Renal failure and sepsis were the main complication and causeof death in group A while neurologic complications were more prevalent en group B. Conclusion Mechanical circulatory support increases survival on the pediatric heart transplantation waiting list in patients classified as Intermacs 1 and 2.

Tratamento cirúrgico da persistência do canal arterial na população adulta

Objective: To analyze 34 patients submitted to surgical treatment of patent arterial duct with age beyond 18 years old. Methods: Retrospective data collected from patient’s charts with more than eighteen years old, submitted to surgical correction of patent arterial duct between 1997 and 2008 at Instituto do Coracao da Faculdade de Medicina da Universidade de Sao Paulo. Results: The mean age was 28.7 (18 a 53) years and 22 (64.7%) were female. The more prevalent symptom was

Arterial Hypertension in a Child with Williams-Beuren Syndrome (7q11.23 Chromosomal Deletion)

We report the case of a 7-year-old male child diagnosed with Williams-Beuren syndrome and arterial hypertension refractory to clinical treatment. The diagnosis was confirmed by genetic study. Narrowing of the descending aorta and stenosis of the renal arteries were also diagnosed. Systemic vascular alterations caused by deletion of the elastin gene may occur early in individuals with Williams-Beuren syndrome, leading to the clinical manifestation of systemic arterial hypertension refractory to drug treatment.

Palliative Senning in the Treatment of Congenital Heart Disease with Severe Pulmonary Hypertension

Background Transposition of the great arteries (TGA) is the most common cyanotic cardiopathy, with an incidence ranging between 0.2 and 0.4 per 1000 live births. Many patients not treated in the first few months of life may progress with severe pulmonary vascular disease. Treatment of these patients may include palliative surgery to redirect the flow at the atrial level. Objective Report our institutional experience with the palliative Senning procedure in children diagnosed with TGA and double outlet right ventricle with severe pulmonary vascular disease, and to evaluate the early and late clinical progression of the palliative Senning procedure. Methods Retrospective study based on the evaluation of medical records in the period of 1991 to 2014. Only patients without an indication for definitive surgical treatment of the cardiopathy due to elevated pulmonary pressure were included. Results After one year of follow-up there was a mean increase in arterial oxygen saturation from 62.1% to 92.5% and a mean decrease in hematocrit from 49.4% to 36.3%. Lung histological analysis was feasible in 16 patients. In 8 patients, pulmonary biopsy grades 3 and 4 were evidenced. Conclusion The palliative Senning procedure improved arterial oxygen saturation, reduced polycythemia, and provided a better quality of life for patients with TGA with ventricular septal defect, severe pulmonary hypertension, and poor prognosis.

Heart Transplantation in Pediatric Population and in Adults With Congenital Heart Disease: Long-term Follow-up, Critical Clinical Analysis, and Perspective for the Future

BACKGROUND Heart transplantation is a treatment option for children as well as for adults with congenital heart disease. OBJECTIVE To report the experience of a tertiary center with heart transplant program in pediatric population and in adults with congenital heart disease. PATIENTS AND METHODS The study consisted of the evaluation of pediatric as well as adult patients undergoing heart transplantation for congenital heart disease. We evaluated the following indication and complications such as renal dialysis, graft vascular disease, tumors and survival. RESULTS From October 1992 to November 2013, 134 patients had transplantation, and there were 139 transplantations and 5 retransplantations. The immunosuppression regimen is based on calcineurin inhibitors and cytostatic drugs. The type of heart disease indicated for transplantation was cardiomyopathies in 70% and congenital heart disease in 30%. Of these 134 patients, 85 patients were alive. Actuarial survival is 77.4%, 69.6%, 59.3% at 1, 5, and 10 years after transplantation. Three patients underwent renal transplantation, 1 patient is in renal dialysis, and 8.2% of patients had post-transplant lymphoproliferative disease. Two patients had retransplantation for graft vascular disease; 1 of them required a simultaneous kidney transplant and died 30 days after the procedure and 1 patient is clinically well 2 years after retransplantation. CONCLUSION Heart transplantation in children and in adults with congenital heart disease is a promising therapeutic option and enables long-term survival for these patients.

Clinical recommendations for postoperative care after heart transplantation in children: 21 years of a single-center experience

Heart transplantation is an option for children with complex congenital heart disease and cardiomyopathies. A patients quality of life and long-term survival depend on successful management of the surgical complications and adverse side effects of immunosuppression. The purpose of this review was to summarize the practical management of postoperative care in this patient population and to make recommendations for the future.