Desmin-related restrictive cardiomyopathy in a pediatric patient: A case report.

Restrictive cardiomyopathies in the pediatric population have diverse etiologies, including storage diseases like hemosiderosis, glycogenoses and desmin with its associated proteins. Desmin-related myopathy is a rare familial disorder of the cardiac and skeletal muscle characterized by intrasarcoplasmic accumulation of desmin-reactive deposits in the muscle cells. The patients commonly present with cardiac involvement such as conduction blocks and/or restrictive cardiomyopathy. Diagnosis of desmin cardiomyopathy depends on light microscopic evaluation of endomyocardial biopsy, where abnormal deposition of desmin can be documented on immunohistochemistry and ultrastructural examination. The index report presents the clinical, light microscopic and ultrastructural fi ndings of desmin cardiomyopathy.

Drug therapy of cardiac diseases in children.

Justification: The indications and doses of most drugs used for heart ailments in children are extrapolated from data in adult patients. Separate guidelines are needed for neonates, infants and children because of the differences in underlying heart diseases and metabolic clearance of some of these drugs. Process: Consensus emerged following expert deliberations at the National Meeting on Management of Congenital Heart Diseases in India, held on 13th September 2008, at the All India Institute of Medical Sciences, New Delhi, India, supported by Pediatric Cardiac Society of India. Objectives: To review the literature and frame evidence based guidelines for (i) indications, doses, adverse effects and safety profile of commonly used drugs in pediatric cardiology practice; and (ii) to provide an algorithm for treatment in various clinical settings. Recommendations: Consensus review and recommendations are given for drugs used in children for heart failure, hypertension, thrombosis, supraventricular tachycardia and intensive care. Guidelines are also given for use of intravenous immunoglobulins and sildenafil in children.

Prevalence of rheumatic heart disease: Has it declined in India.

Rheumatic heart disease continues to be a major health problem in many parts of the world. The epidemiology of rheumatic heart disease in India is of special interest as it may help to understand the effects of economic transition on this enigmatic disease. Critical appraisal of the published literature suggests the possibility of a real decline in the occurrence of the disease in some parts of the country, but a continuing onslaught in several other regions. The rate of decline seems to correlate more with improved public health facilities than with economic development alone. However, the cumulative burden of the disease remains high, and sustained efforts for the prevention of rheumatic heart disease are warranted.

Use of Amplatzer duct occluder to close severely hypertensive ducts: utility of transient balloon occlusion.

BACKGROUND: The dividing line between a patent ductus arteriosus with severe but reversible pulmonary artery hypertension and an Eisenmenger duct remains elusive. Increasing experience with the Amplatzer duct occluder has made non-surgical closure of even large patent ductus arteriosus simple and safe. However, data on the use of this device in severly hypertensive ducti is sparse. METHODS AND RESULTS: There were six patients (2 males, 4 females), wherein transient ductal occlusion was done with an embolectomy balloon catheter. The post-occlusion hemodynamics along with overall clinical and hemodynamic assessment was used to decide the likelihood of benefit of closure and the choice of the device. In four of six patients of patent ductus arteriosus with severe pulmonary artery hypertension (pulmonary vascular resistance index> 8.0 U/m2) the duct was successfully closed using the Amplatzer duct occluder, while in two an Amplatzer ventricular septal defect occluder was used. CONCLUSIONS: Transient balloon occlusion is quite helpful for assessing patients with patent ductus arteriosus with severe pulmonary hypertension, and short-term non-invasive follow-up has shown this strategy to be safe and useful.

Infective endocarditis following implantation of amplatzer atrial septal occluder.

Infective endocarditis is a rare but serious complication following device closure of atrial septal defect. Surgical removal of the device is mandatory in such cases. We report a rare case of polymicrobial endocarditis following implantation of Amplatzer septal occluder in an eight-year-old child.

Transatrial permanent pacing lead implantation in a patient of Ebstein's anomaly after one and half repair.

Several innovative approaches have been described to achieve endocardial pacing in patients with operated complex congenital heart diseases. We report herein a case of Ebstein's anomaly who underwent a Hardy's repair with a bidirectional Glenn shunt, tricuspid valve annuloplasty and atrial septal defect closure following which she developed complete heart block. The chest was reopened through the previous midsternotomy and a screw-in lead implanted transatrially that resulted in optimal pacing thresholds. This technique offers a viable alternative for endocardial pacing in peri-operative patients requiring permanent pacing.

Surgical outcome of staged univentricular-type repairs for patients with univentricular physiology and pulmonary hypertension.

BACKGROUND: There is no consensus about the most appropriate limits of pulmonary artery pressure and vascular resistance in case of patients undergoing univentricular or one and one-half ventricular repair. This study was conducted to analyze the mortality and morbidity of a heterogenous group of patients with a functionally univentricular heart and pulmonary artery hypertension, undergoing pulmonary artery banding followed by univentricular-type repairs. METHODS AND RESULTS: Out of 254 patients undergoing pulmonary artery banding for a functionally univentricular heart with increased pulmonary blood flow, 148 patients underwent definitive second stage surgery. Post-band hemodynamic evaluation revealed persistently high pulmonary artery pressure (> 18 mmHg), and pulmonary vascular resistance (>2.0 Woods units/m2) in 78.3% patients. Sixteen patients with moderate right ventricular hypoplasia were given a one and one-half ventricle repair (Group I), 82 patients a bidirectional Glenn connection (Group II), and 50 patients a fenestrated total cavopulmonary connection (Group III). The overall mortality following second stage surgery for the high pulmonary artery pressure group (n=116) was 30.17%, while none of the low pulmonary artery pressure group died (p=0.0009). Pulmonary hypertensive crises and/or systemic desaturation were the main causes of death at second stage repair. All mortality occurred in patients with mean pulmonary artery pressure > 18 mmHg and pulmonary vascular resistance > 3.5 Woods units/m2. Survivors from this group had persistent morbidity in the form of superior vena caval syndrome and suboptimal oxygen saturation (70-75%). CONCLUSIONS: It is advisable not to proceed with definitive second stage repair if post-pulmonary artery banding mean pulmonary artery pressure is over 25 mmHg and pulmonary vascular resistance exceeds 4.0 Woods units/m2. These patients may possibly be deemed to have undergone definitive palliation during their pulmonary artery banding.

Dilated cardiomyopathy in Indian children.

BACKGROUND: The aim of this study was to ascertain the clinical course and prognosis of dilated cardiomyopathy in Indian children. METHODS AND RESULTS: The records of 82 children with dilated cardiomyopathy (50 males), less than 12 years of age (mean age 2.9+/-3.07 years), were retrospectively reviewed. Clinical variables, laboratory parameters, and serial echocardiograms were analyzed. On a mean follow-up of 25.09 months (range 15 days-118 months), 9 out of 78 patients died (11.5%) (CI: 4.5%-18.5%). Mortality was 25% (6/24) in infants but the actuarial survival was 87% at 5 years in those diagnosed beyond infancy. Serial echocardiograms of 66 patients (80%) were available. Of these, 39 patients (59%) (CI: 47%-70%) improved, 12 (18%) (CI: 9%-27%) deteriorated or died, and 15 (23%) (CI: 13%-33%) remained unchanged during the follow-up. Among the prognostic variables, only age less than 1 year, higher cardiothoracic ratio, and a higher ratio of left ventricular diastolic dimension/posterior wall thickness was associated with a poor outcome on univariate analysis. CONCLUSIONS: Dilated cardiomyopathy in children pursues a heterogeneous course with a high mortality in infants. A large number of children diagnosed beyond infancy improve or recover. Further characterization of prognostic variables is warranted.

Medium-term outcome of anatomically repaired congenitally corrected transposition: the double switch operation.

BACKGROUND: The double switch operation is emerging as the procedure of choice for congenitally corrected transposition of the great arteries. However, rhythm disturbances in the postoperative period are rarely discussed. METHODS AND RESULTS: Eighteen survivors who underwent corrective surgery for congenitally corrected transposition of the great arteries were followed up. Patients in group I (n=8), who also had a ventricular septal defect and pulmonary stenosis, had undergone the Senning plus Rastelli operation. Patients in group II (n=10), who did not have pulmonary stenosis, had undergone the Senning and arterial switch operation. The patients were followed up by periodical clinical examination, echocardiography and 24-hour Holter monitoring. In group I, follow-up ranged from 24 to 66 months (mean 44 months). There was no late death and all the patients are symptom free. There was no significant atrioventricular valve regurgitation and left ventricular function was normal. There were no rhythm disturbances. In group II, follow-up ranged from 2 to 72 months (mean 48 months). There were 2 late deaths due to atrial tachyarrhythmia and residual pulmonary hypertension 36 and 8 months after the procedure, respectively. One patient had significant mitral regurgitation and required mitral valve replacement. Three patients had recurrent atrial/junctional tachyarrhythmia: one of them was lost to follow-up after 1 year while another died of resistant atrial tachyarrhythmia. The third patient underwent mitral valve replacement for severe mitral regurgitation and developed complete heart block necessitating a permanent pacemaker implantation. CONCLUSIONS: Though good long-term results are obtained following the double switch operation, the problem of atrial arrhythmias still needs to be addressed suitably.

Autologous right atrial patch for closure of atrial septal defect.

BACKGROUND: Prosthetic or pericardial patches used for the closure of atrial septal defects are associated with infrequent but definite problems. As an alternative, we used a right atrial free-wall patch in 12 patients, 7-54 years of age. METHODS AND RESULTS: The presence of a large secundum atrial septal defect (n=2). associated mitral valve regurgitation (n=7), primum atrial septal defect (n=2) and sinus venosus defect (n=1) necessitated the use of a patch. The mitral valve was repaired in 9 patients (including 2 with a primum defect). One patient with a primum defect who was in congestive heart failure preoperatively died after 3 weeks due to refractory ventricular fibrillation. The remaining patients were discharged 5 to 7 days post procedure. No flow was detected across the septal patch on predischarge echocardiography. One patient underwent reoperation for failed mitral valve repair one month postprocedure. At reoperation, the patch was found to be intact with normal texture and without any suture dehiscence. Histopathological examination of the explanted patch revealed viable endothellum and subendothelial muscle on both surfaces of the patch. Follow-up ranged from 6 to 36 months. Echocardiography performed after 6 to 32 months post procedure showed an intact patch with no residual defect. All the patients are in sinus rhythm. Holter monitoring performed in 6 patients was normal in all of them. Electrophysiological study was performed in 2 patients using a mapping catheter 4 and 6 months post-procedure, respectively, and recorded normal atrial potentials from the site of the patch. CONCLUSIONS: The use of an autologous free right atrial wall as a patch for atrial septal defect closure is a viable option.