Neonatal cardiac disorders

INTRODUCTION: Mitochondrial oxidative phosphorylation (OXPHOS) is a cellular process that generates most of the cellular energy required by the body. Disorders affecting OXPHOS are multisystem diseases caused by pathogenic variants in more than 50 genes. In 2017, biallelic variants in the MRPS34 gene were shown to cause combined oxidative phosphorylation deficiency type 32 (COPD32) (OMIM#617664); however, only 7 patients have been reported in the literature up to this moment. COPD32 is characterized mainly by a severe Leigh-like syndrome...

We report an unusual case of an aorta to left ventricular communication in a neonate presenting with cardiac failure. Although extremely rare, this defect is the most common cause of abnormal blood flow from the aorta to a ventricle in infancy. Early diagnosis and prompt surgical repair are critical to management and results are generally excellent. Long-term follow-up is required to monitor for aortic insufficiency.

INTRODUCTION: Timothy syndrome (TS) is an extremely rare, multisystem disorder classically associated with long QT, syndactyly, ventricular arrhythmias, and hypoglycaemia. A neonatal diagnosis allows maximal medical and device therapy to be implemented to avoid malignant arrhythmias and sudden cardiac death. METHODS: This was a retrospective case series study of type I TS (TS1) patients using data from the Timothy Syndrome Foundation's international registry, encompassing patients with a genetic diagnosis (CACNA1C variant G406R in exon 8A) recruited over a 28-year period...

OBJECTIVES: Limited data on performing bilateral pulmonary artery banding (BPAB) before stage 1 Norwood procedure suggest that some patients may benefit through the postponement of the major cardiopulmonary bypass procedure. The objective of this study was to evaluate the effectiveness of BPAB in the surgical management of high-risk patients with hypoplastic left heart syndrome (HLHS). METHODS: A retrospective review of all high-risk neonates with HLHS who underwent BPAB at our institution was performed...

BACKGROUND: Influenza infection is rarely associated with cardiac conduction disorder. Cardiac arrhythmias due to such an infection have a full spectrum with ventricular arrythmias being the most common. METHODS: In our systematic review from PubMed, OVID Medline and EMBASE we have identified 23 articles describing arrythmias associated with different influenza infection. Most of them were case reports where ventricular arrhythmias were the most common. RESULTS: Complete heart block after influenza infection is usually temporary and a permanent pacemaker is rarely needed...

BACKGROUND: Despite efforts, Uganda has not met the World Health Organization target of < 12 newborn deaths per 1,000 live births. Severe maternal morbidity or 'near miss' is a major contributor to adverse perinatal outcomes, particularly in low-resource settings. However, the specific impact of maternal near miss on perinatal outcomes in Uganda remains insufficiently investigated. We examined the association between maternal near miss and adverse perinatal outcomes at Mbarara Regional Referral Hospital (MRRH) in southwestern Uganda...

Vici syndrome is a genetic disorder involving autophagy dysfunction caused by biallelic pathogenic variants in ectopic P-granules 5 autophagy tethering factor ( EPG5 ). We report the perinatal clinical course of a neonate with Vici syndrome with a unique cardiac presentation. Foetal ultrasonography (US) detected right ventricular hypertrophy, hypoplastic left ventricle and narrowing of the foramen ovale, which were alleviated after birth. Agenesis of the corpus callosum and cerebellar hypoplasia were missed antenatally...

Bradycardia, frequently observed in preterm infants, presents significant risks due to the immaturity of their autonomic nervous system (ANS) and respiratory systems. These infants may face cardiorespiratory events, leading to severe complications like hypoxemia and neurodevelopmental disorders. Although neonatal care has advanced, the influence of bradycardia on cardiorespiratory coupling (CRC) remains elusive. This exploratory study delves into CRC in preterm infants, emphasizing disparities between events with and without bradycardia...

BACKGROUND: Systemic lupus erythematosus (SLE), a common autoimmune disease predominantly affecting women, has been linked to various complications during pregnancy. The transfer of anti-Ro/SSA antibodies from SLE-affected mothers to their offspring can lead to neonatal lupus and cardiac issues. This study investigated the association between maternal SLE and the risk of pediatric cardiovascular disorders. METHODS: The study utilized South Korea's National Health Insurance Service (NHIS) database, covering 3,505,737 children born between 2007 and 2017 and tracked until 2020...

BACKGROUND: Cardiac hypertrophy (CH) is a well-established risk factor for many cardiovascular diseases and a primary cause of mortality and morbidity among older adults. Currently, no pharmacological interventions have been specifically tailored to treat CH. OTUD7B (ovarian tumor domain-containing 7B) is a member of the ovarian tumor-related protease (OTU) family that regulates many important cell signaling pathways. However, the role of OTUD7B in the development of CH is unclear...

BACKGROUND: Supraventricular tachycardia (SVT) is one of the most common non-benign arrhythmias in neonates, potentially leading to cardiac decompensation. This study investigated the early risk factors of acute heart failure (AHF) secondary to SVT in neonates, and explored their value in guiding the selection of effective anti-arrhythmic treatment. METHODS: A total of 43 newborns diagnosed with and treated for SVT between January 2017 and December 2022 were analyzed...

BACKGROUND: Despite its rare incidence of 1/40,000, fetal cardiac rhabdomyoma (CR) represents the prevailing type of benign cardiac fetal tumors, which commonly affects the ventricles. Fetal CRs rarely occur in the right atrium. Thus, the presentation of atrial fibrillation and premature atrial contractions (PAC) due to a solitary cardiac rhabdomyoma is an extremely rare scenario. Our literature review found that only 2% (1 out of 61) of rhabdomyoma cases were found in the right atrium...

The authors describe a case of fetal isolated right atrial enlargement or IDRA (idiopathic dilatations of the right atrium) evident in third trimester, complicated by arrhythmia in the female infant during the 1° month of life with ECG diagnosis of Wolf-Parkinson-White syndrome (WPW). The eldest sister died at 6 years because of an arrhythmia with the same diagnosis of WPW. The review of the literature on IDRA frequently shows a familial genetic aggregation. The pathogenetic mechanism underlying the dilation of the right atrium could consist of a myopathy or electrical conduction disorder...

Vein of Galen aneurysmal malformation (VGAM) is a rare, congenital, intracerebral arteriovenous malformation with a poor prognosis. This disorder commonly presents during the neonatal period and rarely in infancy and childhood. Reported here is a case of VGAM in a three-month-old female baby who presented with proptosis and intracranial calcifications, which are rare presentations of this rare entity. The diagnosis was confirmed by magnetic resonance imaging (MRI).

BACKGROUND: Single-cell RNA sequencing is widely used in cancer research and organ development because of its powerful ability to analyze cellular heterogeneity. However, its application in cardiomyocytes is dissatisfactory mainly because the cardiomyocytes are too large and fragile to withstand traditional single-cell approaches. METHODS AND RESULTS: Through designing the isolation procedure of neonatal mouse cardiac cells, we provide detailed cellular atlases of the heart at single-cell resolution across 4 different stages after birth...

OBJECTIVE: This study was designed to explore the effects of low-dose levothyroxine (LT4) on levels of atrial natriuretic peptide (ANP) and c-type natriuretic peptide (CNP) in neonates with hypothyroidism (NH). METHODS: In this retrospective study, a total of 90 cases of NH screened out and confirmed by the First Affiliated Hospital of Zhejiang Chinese Medical University from October 2014 to February 2018 were selected as a study group. 80 healthy children who underwent physical examination during the same time period were enrolled as controls...

BACKGROUND: Cardiac hypertrophy can be a pathological process that impairs heart function. Anthocyanins are a well-characterized type of natural antioxidant, and recent studies have shown that this type of compound has potential cardioprotective effects against different disorders, such as cardiac hypertrophy. OBJECTIVES: We assessed the anti-hypertrophy potential of cyanidin-3-O-glucoside (C3G) and the mechanism associated with any observed effects. MATERIAL AND METHODS: Hypertrophy symptoms were induced using the transverse aortic constriction (TAC) operation in vivo and angiotensin II (Ang II) in vitro...

The right ventricular fetal tricuspid annular plane systolic excursion index (FTI) can be used to evaluate right ventricular systolic function. The purpose of this study was to establish the reference range of the FTI in normal fetuses and evaluate its diagnostic value in hypertensive disorders during pregnancy. In this prospective observational study, the right ventricular FTI was measured in 208 normal single-gestation fetuses between 20 and 40 weeks. With the increase in gestational age, the right ventricular FTI did not significantly fluctuate...

The 22q11.2 deletion syndrome (22q11.2DS) is the most common chromosomal microdeletion disorder caused by hemizygous microdeletion of the long arm of chromosome 22. It is now known to have a heterogenous presentation that includes multiple additional congenital anomalies and later-onset conditions, such as gastrointestinal and renal abnormalities, autoimmune disease, variable cognitive delays, behavioral phenotypes and psychiatric illness. The purpose of our paper is to present the case of a fetus diagnosed with a complex association of cardiac anomalies: interrupted aortic arch type B, large malalignment-type ventricular septal defect, pulmonary valve dysplasia, and aberrant right subclavian artery for whom the result of genetic testing revealed 22q11...

BACKGROUND: The first clinical manifestations of inherited metabolic diseases occur in the neonatal period in up to half of cases, often with nonspecific symptoms, making their recognition challenging. This study aimed to characterise inherited metabolic disease cases with neonatal presentation requiring admission to the paediatric intensive care unit in a Portuguese reference centre for inherited metabolic diseases. MATERIAL AND METHODS: An observational study with retrospective data collection was performed, including all newborns with an inherited metabolic disease admitted to the pediatric intensive care unit between June 2011 and June 2022...