Cardiomyopathy in limb girdle muscular dystrophy R9, FKRP related.

INTRODUCTION: Reported frequencies of cardiomyopathy in limb girdle muscular dystrophy R9 (LGMDR9) vary. We describe the frequency and age at onset of cardiomyopathy in an LDMDR9 cohort. METHODS: Echocardiograms from 56 subjects (157 echocardiograms) with LGMDR9 were retrospectively reviewed. The cumulative probability of having an abnormal echocardiogram as a function of age was assessed by survival analysis for interval-censored data by genotype. Correlations between cardiac and clinical function were evaluated. RESULTS: Twenty-five (45%) participants had cardiomyopathy. The median age at first abnormal echocardiogram for subjects homozygous for the c.826C>A variant was 54.2 y compared to 18.1 y for all other fukutin-related protein (FKRP) genotypes (P < .0001). There was a weak correlation between ejection fraction and 10-Meter Walk Test speed (r = 0.25), but no correlation with forced vital capacity (r = 0.08). DISCUSSION: Cardiomyopathy is prevalent among those with LGMDR9 and occurs later in subjects homozygous for the c.826C>A mutation. These data will help to guide surveillance and management.

Pulmonary atresia with intact ventricular septum and congenital left ventricular aneurysm.

Pulmonary atresia with intact ventricular septum and congenital left ventricular aneurysms are both rare, representing <1 and <0.1% of CHD, respectively. The association of left ventricular aneurysms and pulmonary atresia with intact ventricular septum has been documented in the literature, but all the previous case reports have involved children with acquired left ventricular aneurysms. We report an interesting case of a child with both pulmonary atresia with intact ventricular septum and a congenital left ventricular aneurysm. The combination of these two lesions ultimately affected the course of clinical care for the patient.

Persistent primitive hepatic venous plexus with Scimitar syndrome: description of a case and review of the literature.

Persistent primitive hepatic venous plexus is an anomaly of the systemic venous return characterised by postnatal persistence of the foetal intrahepatic venous drainage. Scimitar syndrome is a condition that consists of partial anomalous pulmonary venous return of the right pulmonary venous drainage into the systemic veins, associated with pulmonary artery hypoplasia with the underdeveloped right lung, pulmonary sequestration, and cardiac malposition. Both conditions are rare and together have been rarely described in the literature. We report the first case of this combination of lesions imaged by cardiac magnetic resonance imaging with a three-dimensional reconstruction and reviewed the literature to characterise this uncommon combination.

Hypoplastic left heart with intact atrial septum and levoatriocardinal vein: a challenge in identifying aortic arch branches.

The levoatriocardinal vein provides alternative egress from the left atrium to the systemic veins in left-sided obstructive lesions. Although rare, it has been described in association with hypoplastic left heart syndrome. We report a case of hypoplastic left heart syndrome with levoatriocardinal vein and aberrant right subclavian artery where cardiac magnetic resonance imaging/angiography proved to be a valuable imaging modality for pre-operative evaluation.

Outcomes of Pneumocystis jiroveci pneumonia infections in pediatric heart transplant recipients.

PJP is known to cause significant morbidity and rarely death in immunosuppressed patients. The prevalence and outcomes of PJP in pediatric solid-organ transplant patients are not well established. This study utilizes data from the PHTS to establish the prevalence and outcome of PJP in pediatric heart transplant recipients. We conducted a retrospective cohort study using data from the PHTS, including data from 24 institutions between January 1, 1993, and December 31, 2004. Infections that occur in PHTS subjects are recorded in a standardized data collection form. The prevalence and outcomes of PJP in pediatric heart transplant recipients were determined. There were a total of 18 patients (1%) with PJP out of the 1854 pediatric heart transplant recipients in the PHTS database. A majority of PJP occurred two months to two yr post-transplant, and patients with PJP had a significantly decreased mortality compared with other fungal infections. PJP is an infrequent complication experienced by pediatric heart transplant recipients. Patients that have experienced PJP have an increased survival compared to patients with other fungal infections, and most PJP occurred within two yr of transplant.

Sudden cardiac death in young athletes: trying to find the needle in the haystack.

Sudden cardiac death in young athletes is an infrequent, but catastrophic event. Hypertrophic cardiomyopathy, coronary artery anomalies, and arrhythmias are common identifiable causes of sudden cardiac death. Many of these disorders can be difficult to diagnose, and athletes may be completely asymptomatic prior to their sudden death event. This article reviews causes of sudden cardiac death in young athletes and current recommendations for pre-participation screening.

Intervention for Supravalvar Pulmonary Stenosis After the Arterial Switch Operation.

BACKGROUND: The arterial switch operation is standard of care for infants born with dextrotransposition of the great arteries. Supravalvar pulmonary stenosis is a common complication that may require reintervention-balloon angioplasty, stenting, or surgical augmentation. A subset of patients requires more than one reintervention. METHODS: We performed a retrospective review of patients who underwent the arterial switch operation for dextrotransposition of the great arteries at a single institution between August 1990 and January 2014. Anatomic, perioperative and follow-up data were collected. Reinterventions were stratified in a site-specific manner. Statistical analysis was performed using IBM SPSS version 21 (IBM Corp, Armonk, NY). RESULTS: Of the 103 patients who met inclusion criteria, 28% (29) required reintervention for supravalvar pulmonary stenosis; 41% of those receiving primary reintervention required an additional 21 reinterventions. Balloon angioplasty of the main pulmonary artery and left pulmonary artery was associated with the need for multiple reinterventions (odds ratio 4.9, p = 0.051, and odds ratio 5.1, p = 0.029, respectively). Freedom from future reintervention at the main pulmonary artery and left pulmonary artery was significantly shorter after balloon angioplasty relative to alternative reintervention options (hazard ratio 10, p = 0.005, and hazard ratio 3.2, p = 0.02, respectively). Balloon angioplasty of the right pulmonary artery was not associated with an increased risk of reintervention (p = 0.42). CONCLUSIONS: Supravalvar pulmonary stenosis after the arterial switch operation for dextrotransposition of the great arteries is common and more than one reintervention are required in a subset of patients. The benefit of balloon angioplasty of the main pulmonary artery and left pulmonary artery was shown to be temporary. Attempting balloon angioplasties at these locations remain reasonable, although families should be counseled about the increased incidence of, and decreased time to, subsequent reintervention that is associated with this treatment option.

Closure of tubular patent ductus arteriosus in infants and small children with the Amplatzer Vascular Plug II.

Percutaneous closure of a tubular patent ductus arteriosus can be challenging in the infant and small child. In this report, we describe the successful closure of tubular patent ductus arteriosus with the Amplatzer Vascular Plug II in two patients, ages 3 months and 13 months.

Missed congenital heart disease in neonates.

OBJECTIVES: The purpose of this study was to determine the incidence of missed congenital heart disease in neonates in the state of Wisconsin leading to death or readmission during the first 2 weeks of life. DESIGN: Wisconsin hospitalization and death records were reviewed from 2002 to 2006. Only those neonates discharged home after birth without a cardiac or major non-cardiac diagnosis were considered. Wisconsin hospital records identified those neonates readmitted during the first 2 weeks of life with a diagnosis of heart disease using International Classification of Diseases, 9th Revision (ICD-9) codes. Wisconsin death records also identified patients who died within the first 14 days of life who had a diagnosis of heart disease using International Classification of Diseases, 10th Revision (ICD-10) codes. Adverse events were attributed to congenital heart disease if the diagnosis was a left-sided obstructive lesion or a cyanotic heart defect. Other adverse events were attributed to heart disease if no other major diagnosis was present and the data suggested an intention to treat. The 114 Wisconsin hospitals, which delivered 340 203 babies during 2002-2006, were stratified into quartiles based on the total number of deliveries to determine if there was a difference in incidence of missed congenital heart disease based on hospital birth size. RESULTS: Congenital heart disease led to death or rehospitalization during the first 2 weeks of life in 14 out of 345 573 births (1 : 24 684) in Wisconsin between 2002 and 2006. Coarctation of the aorta and hypoplastic left heart syndrome were the most common diagnoses. There did not appear to be a difference in the incidence of missed diagnosis of congenital heart disease based on the number of deliveries performed at the birth hospital. CONCLUSIONS: Death or readmission events in neonates under 2 weeks of age because of a missed diagnosis of congenital heart disease occurred in 1 : 24 684 neonates in the state of Wisconsin between 2002 and 2006. Critical left sided obstructive lesions were the most common cause of these events.