Tele-Echocardiography for Congenital Heart Disease Screening in a Level II Neonatal Intensive Care Unit with Hybrid Telemedicine System.

Introduction: The nationwide shortage of pediatric cardiologists in medically underserved areas poses a challenge to congenital heart disease (CHD) screening requiring echocardiography, resulting in transfer of neonates to regional Level III/IV Neonatal Intensive Care Units (NICUs). This study aimed to evaluate the accuracy, safety, and cost-effectiveness of tele-echocardiography for advanced CHD screening at a Level II NICU managed by a hybrid telemedicine system. Methods: Retrospective chart review of infants requiring tele-echocardiography at a Level II NICU. Patient demographics, echocardiography indications, and findings were analyzed. Agreement between tele-echocardiography and conventional echocardiography findings was assessed. Transport cost savings were calculated based on preventable transfers to Level IV NICU. Descriptive statistics were computed for demographic and clinical variables. Results: Over 5 years, 52 infants were screened for CHD. Thirty-two infants (62%) had findings consistent with minor CHD or normal neonatal transitional physiology. Twenty infants (38%) had abnormal findings requiring follow-up with either a conventional echocardiography as inpatient at the regional Level IV NICU or as outpatient after discharge. Only 5 infants (10%) required transfer to a Level IV NICU for CHD management, whereas 15 infants (29%) were scheduled for outpatient follow-up. Strong agreement was noted between tele-echocardiography and conventional echocardiography findings. No case of critical congenital heart disease (CCHD) was missed. Tele-echocardiography saved $260,000 in transport costs. Conclusions: Tele-echocardiography can be accurate, safe, and effective in CHD screening, preventing unnecessary transfer of most infants to regional Level III/IV NICUs, saving transfer costs.

Atypical recurrent Kawasaki disease with retropharyngeal involvement: A case study and literature review.

Kawasaki disease (KD) is a systemic inflammatory condition primarily affecting young children. We present an adolescent male with two episodes of complete KD between the age of 2 and 14 years. At age 14, he presented with findings suggestive of a retropharyngeal abscess. This was later determined to be a recurrence of KD, diagnosed after the development of coronary artery aneurysms. Our case reinforces the role of maintaining a high index of suspicion for KD, both in patients with prior KD episodes and in those with persistent fever who do not fulfill the diagnostic criteria for typical KD. This is particularly important for patients presenting with atypical symptoms not commonly associated with KD, such as inflammation of the retropharyngeal and parapharyngeal spaces.

Coronary artery thrombus resulting in sudden cardiac death in an infant with Kawasaki disease and giant coronary artery aneurysms.

We report a case of a six-month-old Hispanic male infant who had Kawasaki disease and coronary artery aneurysms on echocardiography. He died suddenly five months later in spite of aggressive medical therapy. Autopsy showed extensive coronary artery thrombosis. Giant coronary artery aneurysms need diligent follow up as they pose significant risks including risk of thrombus, myocardial infarction and sudden death.

Carotid-subclavian bypass for subclavian steal syndrome following coarctation repair in infancy.

A 19 year old man presented with dizziness that was exacerbated while using left arm. On investigation, subclavian steal syndrome (SSS) was diagnosed. He underwent left carotid to subclavian bypass with relief of symptoms. Subclavian steal syndrome, although rare, should be considered in the differential diagnosis in patients with the history of subclavian artery manipulation in the past in proper settings.

Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?

BACKGROUND: Arteriosclerosis and emphysema develop in individuals with Schimke immuno-osseous dysplasia (SIOD), a multisystem disorder caused by biallelic mutations in SMARCAL1 (SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a-like 1). However, the mechanism by which the vascular and pulmonary disease arises in SIOD remains unknown. METHODS: We reviewed the records of 65 patients with SMARCAL1 mutations. Molecular and immunohistochemical analyses were conducted on autopsy tissue from 4 SIOD patients. RESULTS: Thirty-two of 63 patients had signs of arteriosclerosis and 3 of 51 had signs of emphysema. The arteriosclerosis was characterized by intimal and medial hyperplasia, smooth muscle cell hyperplasia and fragmented and disorganized elastin fibers, and the pulmonary disease was characterized by panlobular enlargement of air spaces. Consistent with a cell autonomous disorder, SMARCAL1 was expressed in arterial and lung tissue, and both the aorta and lung of SIOD patients had reduced expression of elastin and alterations in the expression of regulators of elastin gene expression. CONCLUSIONS: This first comprehensive study of the vascular and pulmonary complications of SIOD shows that these commonly cause morbidity and mortality and might arise from impaired elastogenesis. Additionally, the effect of SMARCAL1 deficiency on elastin expression provides a model for understanding other features of SIOD.