C ongenital heart disease (CHD) is found in 40% of infants with Down syndrome but in only 0.3% of children who have normal chromosomes.1 In Down syndrome, ventricular septal defect and atrioventricular septal defect (AVSD) are typical malformations. Transient hypertrophic cardiomyopathy (HCM) in neonates has typically been attributed to maternal diabetes mellitus and has infrequently been reported in association with CHD. Atrioventricular septal defect is often associated with chromosomal aberration, whereas HCM is thought to be secondary to specific gene mutations. We found just one reported case of congenital HCM and AVSD in an infant with Down syndrome.2 Here, we report the case of a neonate who had Down syndrome with HCM, complete AVSD, and pulmonary vein (PV) stenosis, and we discuss the relevant medical literature.
Case ReportA male infant (twin B) from a dichorionic diamniotic pregnancy was born at our hospital. The 38-year-old mother underwent a cesarean section at 33 weeks of gestation because of uteroplacental insufficiency and intrauterine growth restriction. The infant's birth weight was 3 lb 6 oz, and his Apgar scores were 8 at 1 min and 9 at 5 min. Routine antenatal ultrasonographic results had raised suspicion of AVSD; other findings were the absence of a nasal bone and a poorly visible stomach in twin B. At 26 weeks of gestation, a prenatal echocardiogram had shown a common atrioventricular (AV) canal defect in twin B and no cardiac defects in twin A. No antenatal genetic tests were performed.The initial physical examination revealed a neonate who was small for his gestational age and had Down facies, single palmar crease, and mild hypotonia. Cardiovascular examination revealed a normal precordium, no cyanosis, a normal S 1 , and a loud S 2 (P2 component) with no murmur. The peripheral pulses were well palpable. The liver was palpable 2 cm below the costal margin. A chest radiograph showed an enlarged cardiac silhouette. A 12-lead electrocardiogram showed sinus rhythm, left-axis deviation, and possible biventricular hypertrophy. A transthoracic echocardiogram (TTE) showed a common AV canal defect (Rastelli type A), a thick ventricular septum, a large pa tent ductus arteriosus, and a patent foramen ovale. A postnatal chromosomal analysis revealed 47, XY, +21 (trisomy 21).Serial TTEs were obtained during the infant's hospital stay. At 3 months, a TTE showed complete AVSD and severe asymmetric septal hypertrophy (Fig. 1), as well as left ventricular midcavitary obstruction (peak gradient, 25 mmHg). There was no systolic anterior motion of the mitral valve. Results of hemodynamic catheterization included pulmonary venous desaturation of 88% on the left due to chronic lung dis-
Common arterial trunk (CAT), or truncus arteriosus, is a rare form of cyanotic congenital heart disease and is highly associated with DiGeorge syndrome (microdeletion 22q11.2). Prenatal diagnosis is highly feasible, allowing proper delivery planning and postnatal management. The clinical presentation is highly variable depending on the anatomical variation; however, most commonly presenting with mild cyanosis and significant tachypnea, although these patients can often go undetected in the immediate newborn period. Transthoracic echocardiography is adequate for diagnosis and detailed anatomical delineation in the majority. Additional imaging modalities such as cardiac catheterization, computed tomography angiography, or cardiac magnetic resonance imaging can be helpful in those with more complex pulmonary artery (PA) or aortic anatomy, or in the older repaired. The surgical management of CAT is complete repair in the neonatal period with resection of branch PAs from the CAT with placement of a right ventricular (RV)-to-PA conduit and patch closure of the ventricular septal defect. Overall surgical outcomes are excellent in most centers, with the expectation that the child will eventually outgrow the RV-to-PA conduit and require reoperation. Other potential reoperations or postsurgical interventions in addition to the RV-to-PA conduit may involve the truncal valve or branch PAs.
Coronavirus disease 2019 (COVID-19) is a global pandemic presenting with various cardiovascular manifestations. Although Brugada pattern ST-segment elevation (STE) is well described in patients admitted with febrile illness, the implication of recognizing this abnormality in patients with COVID-19 is critical in providing appropriate care for the patient and also reducing the exposure of healthcare professionals to the risk of infection. We report a patient with COVID-19 infection presenting with STE due to fever-related unmasking of Brugada pattern, who was managed conservatively.
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