Isolated left ventricular apical hypoplasia: Systematic review and analysis of the 37 cases reported so far.

BACKGROUND: Isolated left ventricular apical hypoplasia (ILVAH), also known as truncated left ventricle (LV), is a very unusual cardiomyopathy. It is characterised by a truncated, spherical, and non-apex forming LV. The true apex is occupied by the right ventricle. Due to the rarity of the disease, just a few case reports and limited case series have been published in the field. AIM: To analysing the so far 37 reported ILVAH cases worldwide. METHODS: The electronic databases PubMed and Scopus were investigated from their establishment up to December 13, 2022. RESULTS: The majority of cases reported occurred in males (52.7%). Mean age at diagnosis was 26.1 ± 19.6 years. More than a third of the patients were asymptomatic (35.1%). The most usual clinical presentation was breathlessness (40.5%). The most commonly detected electrocardiogram changes were T wave abnormalities (29.7%) and right axis deviation with poor R wave progression (24.3%). Atrial fibrillation/flutter was detected in 24.3%. Echocardiography was performed in 97.3% of cases and cardiac MRI in 91.9% of cases. Ejection fraction was reduced in more than a half of patients (56.7%). An associated congenital heart disease was found in 16.2%. Heart failure therapy was administered in 35.1% of patients. The outcome was favorable in the vast majority of patients, with just one death. CONCLUSION: ILVAH is a multifaceted entity with a so far unpredictable course, ranging from benign until the elderly to sudden death during adolescence.

Idiopathic Pulmonary Arterial Hypertension in Paediatrics Represents Still a Serious Challenge: A Case Series Study.

INTRODUCTION: Paediatric pulmonary hypertension (PH) represents a heterogeneous illness that is responsible for high morbidity and mortality if left without treatment. Idiopathic pulmonary arterial hypertension (IPAH) is a subtype of PAH rarely seen in paediatrics. Limited long-term data are available. METHODS: Over a period of 20 years, 10 paediatric patients were enrolled at two tertiary centres. Their clinical, echocardiographic, and right heart catheterisation (RHC) features and outcome were evaluated. RESULTS: The mean age at first diagnosis was 5.7 ± 5.7 years. The age at the last follow-up was 12.4 ± 6.1 years. The average follow-up was 6.6 ± 0.8 years. There was a female prevalence of 60% (p < 0.05) in this case series. Regarding the NYHA functional class, 80% of IPAH subjects were in class III or IV. The mean saturation was 91 ± 5%. In this regard, 70% of the patients were on a combination of three drugs, with sildenafil (90%) included. On echocardiography, longitudinal right ventricular contractility (TAPSE) was slightly reduced (13.4 ± 2.6 mm), whilst RVSP was severely elevated (101 ± 19 mmHg). The RHC data showed that mPAP was 61.8 ± 23.1 mmHg (p = 0.0017 with RVSP on echocardiography), mRAP was 10.7 ± 3.8 mmHg, CI was 2.6 ± 1 L·min-1·m-2, PVRi was 16.8 ± 12.6 WU·m2, and SVO2 was 63.6 ± 14.8%. Regarding the outcome, two male IPAH patients (20%) died, and 50% underwent lung transplant or were on transplant assessment or already on the waiting list for lung transplantation. One patient underwent a ductus arteriosus stenting (reverse Potts shunt) and another underwent atrial septostomy and stenting. CONCLUSIONS: Notwithstanding the progress in medical therapy, IPAH continues to represent a serious challenge, particularly in the paediatric population, with the need for lung transplantation and significant mortality.

Biochemical testing for inborn errors of metabolism: experience from a large tertiary neonatal centre.

Inborn errors of metabolism are an individually rare but collectively significant cause of mortality and morbidity in the neonatal period. They are identified by either newborn screening programmes or clinician-initiated targeted biochemical screening. This study examines the relative contribution of these two methods to the identification of inborn errors of metabolism and describes the incidence of these conditions in a large, tertiary, neonatal unit. We also examined which factors could impact the reliability of metabolic testing in this cohort. This is a retrospective, single-site study examining infants in whom a targeted metabolic investigation was performed from January 2018 to December 2020 inclusive. Data was also provided by the national newborn screening laboratory regarding newborn screening diagnoses. Two hundred and four newborns received a clinician-initiated metabolic screen during the time period examined with 5 newborns being diagnosed with an inborn error of metabolism (IEM) (2.4%). Of the 25,240 infants born in the hospital during the period examined, a further 11 newborns had an inborn error of metabolism diagnosed on newborn screening. This produced an incidence in our unit over the time described of 6.34 per 10,000 births. This number reflects a minimum estimate, given that the conditions diagnosed refer to early-onset disorders and distinctive categories of IEM only. Efficiency of the clinician-initiated metabolic screening process was also examined. The only statistically significant variable in requiring repeat metabolic screening was early day of life (z-score = - 2.58, p = 0.0098). A total of 28.4% was missing one of three key metabolic investigation parameters of blood glucose, ammonia or lactate concentration with ammonia the most common investigation missing. While hypoglycemia was the most common clinical rationale for a clinician-initiated metabolic test, it was a poor predictor of inborn error of metabolism with no newborns of 25 screened were diagnosed with a metabolic disorder. CONCLUSION: Clinician-targeted metabolic screening had a high diagnostic yield given the relatively low prevalence of inborn errors of metabolism in the general population. Thoughts should be given to the rationale behind each targeted metabolic test and what specific metabolic disease or category of inborn error of metabolism they are concerned along with commencing targeted testing. WHAT IS KNOWN: • Inborn errors of metabolism are a rare but potentially treatable cause of newborn mortality and morbidity. • A previous study conducted in a tertiary unit in an area with limited newborn screening demonstrated a diagnostic yield of 5.4%. WHAT IS NEW: • Clinician-initiated targeted metabolic screening has a good diagnostic performance even with a more expanded newborn screening programme. • Further optimisation could be achieved by examining the best timing and also the rationale of metabolic testing in the newborn period.

Should We Be Screening for Ischaemic Heart Disease Earlier in Childhood?

Ischaemic heart disease is the most common cause of death in males and the second in the female gender. Yet we often only focus on identification and treatment of this foremost cause of death in adulthood. The review asks the question what form of coronary disease do we encounter in childhood, what predisposing factors give rise to atherosclerosis and what strategies in childhood could we employ to detect and reduce atherosclerosis development in later life.