A Rare Case of an Infant With 1p36 Deletion Syndrome Presenting With Systolic Heart Failure Secondary to Severe Dilated Cardiomyopathy.

1p36 deletion syndrome is a common terminal chromosomal deletion syndrome in humans. It is caused by the deletion of genetic material from a specific region in the short arm of chromosome 1. Symptoms range from seizure disorders, abnormalities of tone, visual and auditory disturbances. Cardiac abnormalities like left ventricular non-compaction (LVNC) and dilated cardiomyopathies (DCM) are commonly associated with this syndrome. This case report presents a 15-month-old female with dilated cardiomyopathy associated with 1p36 deletion syndrome, who has been followed from birth. Cardiac function was normal at birth with an ejection fraction of 65%. At three weeks of age, the patient presented with severe tachypnea, cyanosis, poor weight gain, and diaphoresis with feeding. Echocardiogram showed an ejection fraction of 22%. The patient was diagnosed with Modified Ross Heart Failure Class III. The patient was admitted to the cardiovascular intensive care unit where diuretics, phosphodiesterase inhibitors, and ionotropic agents were used to manage the heart failure. The patient relapsed two months later following a severe adenovirus infection. She was readmitted and heart failure medications were optimized. This patient has maintained a steady growth, meeting most milestones with no further relapse. The heterogeneity of 1p36 deletion syndrome presentation poses a diagnostic challenge for most clinicians. Cardiac involvements are very common and infants presenting with signs and symptoms of heart failure need to be screened for chromosomal abnormalities when other causes have been ruled out.

Complete resolution of arrhythmia-induced hydrops fetalis in utero.

A 21-year-old G3P2011 Caucasian woman at 27 weeks' gestation presented with fetal tachyarrhythmia between 240 and 270 beats per minute. Fetal supraventricular tachycardia, abdominal ascites, pleural effusion and pericardial effusion indicated hydrops fetalis. Management with digoxin and flecainide converted the fetus to sinus rhythm and resolved the ascites and pleural effusion within 4 days of treatment. Flecainide was discontinued at 31 weeks' gestation due to elevated liver enzymes. Intrahepatic cholestasis was treated with ursodiol. Caesarean section was performed at 37 weeks' gestation. Neonatal echocardiogram revealed a bicuspid aortic valve with mild regurgitation and a patent foramen ovale, and the infant showed no subsequent evidence of tachyarrhythmia or hydrops after delivery. Treatment of hydrops fetalis in the antenatal period is complex, and early diagnosis and treatment can quickly resolve supraventricular tachycardia-induced hydrops fetalis.

Impact of hospital volume on outcomes of percutaneous ASD/PFO closure in pediatric patients.

BACKGROUND: We investigated the effect of hospital volume on percutaneous closure of atrial septal defect/patent foramen ovale (ASD) among pediatric patients. METHODS: We identified patients undergoing percutaneous closure of ASD with device using International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) procedure code 35.52 from the National Inpatient Sample, years 2002-2011. Patients with age ≤ 18 years and primary diagnosis code 745.5 for ASD were included. Hospital volume was calculated using unique identification numbers and divided into tertiles for analysis. Multivariate regression analysis was performed to determine independent predictors of procedure-related complications which were coded using specific codes released by Healthcare Cost and Utilization Project. RESULTS: 6162 percutaneous ASD closure procedures were analyzed. There was no mortality associated with percutaneous ASD closure. Cardiac complications (9.5%) were most common. On multivariate analysis, age increment of 3 years decreased the odds of developing complications (OR 0.83, 95% CI 0.79-0.87, P < 0.001). Odds of developing complications in the 2nd (OR 0.74, 95% CI 0.62-0.89, P = 0.007) and 3rd tertiles (OR 0.34, 95% CI 0.27-0.42, P < 0.001) were lower as compared to the 1st tertile of hospital volume. CONCLUSION: Increasing annual hospital volume is an independent predictor of lower complication rates in percutaneous ASD closure cases with no associated mortality in pediatric patients.

Diagnostic paradox: Ruptured aneurysm of sinus of Valsalva simulating tricuspid valve endocarditis.

Rupture of aneurysm of sinus of Valsalva into the right atrium mimicking tricuspid valve endocarditis is a rare presentation. We review a case of spontaneous rupture of aneurysm of sinus of Valsalva into the right atrium presenting as a murmur. Transthoracic echocardiogram showed a mobile mass that appeared to be attached to the tricuspid valve leaflet with moderate tricuspid regurgitation suggestive of tricuspid valve endocarditis. The diagnosis was confirmed as spontaneous rupture of noncoronary sinus in to the right atrium by transesophageal echocardiogram. Patient recovered completely after surgical repair.

Sudden unexplained cardiac arrest in apparently healthy children: a single-center experience.

This study aimed to determine the causes of sudden cardiac arrest (SCA) in apparently healthy children at a single center in the era of primary prevention (screening questionnaire [SQ]) and secondary prevention (automated external defibrillator [AED] and the automated implantable cardioverter defibrillator [AICD]). Any child 0 to 18 years of age without prior known disease, except for attention deficit disorder, who underwent out-of-the hospital cardiopulmonary resuscitation was included in the study as a SCA subject. A retrospective chart review was used to evaluate the efficacy of the SQ, electrocardiogram (ECG), chest roentgenogram (CXR), and echocardiogram. The findings showed that for 44 of 6,656 children admitted to intensive care with SCA, an AED was used for 39%, an AICD was placed in 18%,and survival to hospital discharge was 50%. The etiology for SCA was identified in 57% of the cases, mostly in those older than 1 year, and the majority of these had a cardiac etiology (50%), whereas 7% had rupture of an arteriovenous malformation. Stimulant medication use was seen in 11% of the SCA subjects. In the best-case scenario of hypothesized primary prevention, a prior SQ, CXR, ECG, or echocardiogram may have detected respectively 18, 9, 23 and 16% of the at-risk cases, and 32% of the cases may have been detected with ECG and SQ together. Based on a historical control cohort, a positive ECG was significantly higher in the children with SCA (p = 0.014). An ECG together with a screening SQ may be more effective in identifying children potentially at risk for SCA than an SQ alone.

Treatment of juvenile xanthogranuloma.

Juvenile xanthogranuloma (JXG) is generally a benign, self-limited histiocytic disorder of the skin. We report two cases of multisystem JXG presenting with clinical features more commonly seen in Langerhans cell histiocytosis (LCH), including diabetes insipidus and lytic bony lesions. Histologically, the skin lesions demonstrated a histiocytic dermal infiltrate that stained for CD-68, but S-100 and CD1a stains were negative. Treatment according to LCH-based chemotherapy regimens resulted in prompt resolution of symptoms. A literature review of multisystem JXG cases treated with chemotherapy suggests that symptomatic patients can successfully be treated with LCH-based regimens that include both corticosteroids and vinca alkaloids.