ABSTRACT
Case Presentation: Term male infant born to SARS-CoV-2 positive mother with infant testing negative. ECG for perinatal bradycardia revealed ventricular pre-excitation. Echocardiogram showed asymmetric LV hypertrophy with prominent trabeculations, subaortic narrowing with no pressure gradient, and normal biventricular systolic function. Rapid increase in RV pressure estimates and NT-proBNP in first week if life concerning for diastolic dysfunction. Anti-arrhythmic therapy initiated for SVT with subsequent resolution. Later, developed progressive LV dilation and systolic dysfunction. Myocardium showed regions resembling non-compaction and others concerning for infiltrative process. Cardiac MRI showed no obvious tumors, but rhabdomyomas could not be ruled out given similar appearance to myocardium. Due to worsening heart failure, everolimus therapy initiated to target potential rhabdomyomas while awaiting genetic testing for tuberous sclerosis. Subaortic narrowing and LV hypertrophy improved within days, and LV appearance became more consistent with non-compaction. Genetic testing revealed a TSC2 gene variant consistent with tuberous sclerosis. Systolic function improved, and patient discharged on afterload reduction. Echocardiogram 6 months post-discharge shows continued LV dilation and mild systolic dysfunction. Discussion(s): Although outflow obstruction and arrhythmias are common with cardiac rhabdomyomas and can cause dysfunction, our patient developed progressive dysfunction in the absence of outflow tract gradient or prolonged arrhythmia. As rhabdomyomas subsided, it became clearer that he had an underlying cardiomyopathy. We suspect that rhabdomyomas in the setting of abnormal myocardium led to abnormalities in myocardial contractility and compliance causing combined systolic and diastolic dysfunction. After complete resolution of rhabdomyomas, cardiac function has improved. However, he continues to have ventricular dilation and mild dysfunction attributable to cardiomyopathy. It is unlikely that mother's SARS-CoV-2 infection played a role as infant tested negative and clinical picture was not consistent with myocarditis.
ABSTRACT
Introduction: Studies show that children account for only 1-5% of diagnosed COVID-19 cases, they have milder disease than adults and deaths are extremely rare. The complete clinical picture of pediatric COVID-19 has not yet been fully reported or defined. Additionally, the South African pediatric population has unique clinical characteristics and risk implications and needs investigating. We aimed to characterize COVID-19 in Cape Town children. Methods: The UCT COVID-19 pediatric repository is a prospective cohort recruited via convenience sampling at 3 Western Cape Hospitals. All patients ≤ 18 years who test COVID-19 positive are eligible for inclusion in the study. Results: To date 227 participants, 56%(125/227) male with median age 2 years (IQR:0-6), have been enrolled. Only 28(12%) participants were in contact with a confirmed COVID-19 positive case, 67% of these, were first degree relatives, 28% second degree relatives and 6% health care workers. Comorbidities were present in 125(56%) participants. Of 32 recorded comorbidities, congenital heart disease (CHD), found in 7% of participants, ranked third. CHD subtypes included PDA (4), Tetralogy of Fallot (3), AVSD (2), Pulmonary atresia with VSD (2), truncus arteriosus (1), Coarctation of the Aorta (1), Congenital aortic valve stenosis (1), and ASD (1). Other cardiac comorbidities were, cardiomyopathy (2), primary pulmonary hypertension (1) and rhabdomyoma (1). On presentation 173 (76%) were symptomatic. Predominant symptoms included cough 40%, history of fever 36%, documented fever 34%, difficulty breathing 28%, and nausea or vomiting 20%. On examination, 65% had abnormal heart rates, 47% abnormal respiratory rates, 35% were in respiratory distress and 24% were hypoxic. Of the 227 patients, 169(74%) were admitted to hospital and 33 (15%) were admitted to ICU. In the ICU 79% of patients required non-invasive and 24% invasive ventilation, median length of ICU admission was 3 days (IQR:2-7.5). During admission 38(17%) patients developed COVID-19 complications: secondary infection 10%, sepsis 4%, MIS-C 2%, and myocarditis or new onset heart failure 1%) and 2(0.9%) died, including one patient with AVSD, who presented with severe pulmonary hypertension and acute heart failure post cardiac surgery. Conclusion: We present the initial findings of the UCT pediatric COVID-19 registry. We anticipate that these data will help to complete the clinical picture of COVID-19 in the South African pediatric population.
ABSTRACT
Fetal cardiac rhabdomyoma is associated with tuberous sclerosis complex (TSC) which is an autosomal dominant hereditary neurocutaneous disease with an incidence of approximately 1 in 5 000 to 10 000 live birth. It is caused by mutations in the TSC1 or TSC2 gene, de novo mutations accounting for approximately 80% of TSC cases, which can involve multiple organs and systems such as the heart, brain, kidney, lung, skin, and so on. Cardiac rhabdomyoma is the most common fetal heart tumor, accounting for about 60% of cases. It is closely related to TSC and may be the only manifestation of TSC which occurs during pregnancy. This study retrospectively analyzed the clinical data of a neonate with TSC diagnosed with fetal cardiac rhabdomyomas and confirmed by amniocentesis prenatal diagnosis as gene testing TSC1 gene positively. The parents had no such mutation. However, due to the influence of the sudden coronavirus disease 2019 (COVID-19) epidemic, the TSC genetic test report was not obtained until 38 weeks of pregnancy. Multiple hypo-pigmented spots (diameter >5 mm) were found immediately after birth. The characteristic cardiac feature of TSC is a rhabdomyoma and the diagnosis of TSC is based upon genetic testing and multiple ultrasound examinations or magnetic resonance imaging. Most patients with TSC have epilepsy, and one-half or more have cognitive deficits and learning disabilities. So rigorous follow-up will continue for the case we reported.