congenital heart disease, congenital cardiopathy

OBJECTIVE: This study analyzed the systemic and oral abnormalities in individuals with Kabuki syndrome (KS) that might be investigated to enhance the early diagnosis and treatment by a multidisciplinary team, minimizing the consequences to the individual's health. STUDY DESIGN: Clinical examination was conducted on 15 individuals to investigate orodental alterations such as tooth abnormalities and cleft lip and/or palate, and the patient records were also reviewed to investigate systemic diseases such as cardiopathies, infectious and immunologic diseases, nephropathies, and delayed neuropsychomotor development...

We describe herein a case of a 16 years-old female patient referred to our department for further exploration of a chest pain. Color Doppler echocardiography revealed an abnormal flow at the level of the pulmonary artery. Exercise testing was abnormal leading to further imaging including computed cardiac tomography followed by coronary angiography which showed anomalous origin of the right coronary artery from the pulmonary artery (ARCAPA) associated with mid shaft left main stenosis. We discuss this uncommon association and therapeutic options...

BACKGROUND: Patients with repaired Tetralogy of Fallot (rTOF) often develop pulmonary regurgitation (PR) and right ventricle (RV) dysfunction, experiencing increased mortality and morbidity rates in adulthood. Pulmonary valve replacement (PVR) timing to address PR is controversial. Cardiac Magnetic Resonance (CMR) is the gold standard for morpho-functional evaluation of complex cardiopathies. This study aims to identify CMR parameters predictive of adverse outcomes to help defining the best therapeutic management of rTOF patients...

Atrial septal defects (ASD) and Patent foramen ovale (PFO) represent the most common congenital heart diseases (CHD) adulthood. These two clinical entities, having different embryological origin, as well as clinical manifestations, clinical course and treatment must be carefully distinguished. Right heart failure and pulmonary hypertension are considered the major determinants of morbidity and mortality in ASD. Conversely, new pathophysiology concepts have been raised in the management of PFO as left atrium cardiopathy...

Congenital heart defects (CHDs) are the most common form of birth defects in humans. They occur in 9 out of 1000 live births and are defined as structural abnormalities of the heart. Understanding CHDs is difficult due to the heterogeneity of the disease and its multifactorial etiology. Advances in genomic sequencing have made it possible to identify the genetic factors involved in CHDs. However, genetic origins have only been found in a minority of CHD cases, suggesting the contribution of non-inherited (environmental) risk factors to the etiology of CHDs...

BACKGROUND: Data on cardiogenic shock in adults with congenital heart disease (ACHD) are scarce. AIM: We sought to describe cardiogenic shock in ACHD patients in a nationwide cardiogenic shock registry. METHODS: From the multicentric FRENSHOCK registry (772 patients with cardiogenic shock from 49 French centres between April and October 2016), ACHD patients were compared with adults without congenital heart disease (non-ACHD). The primary outcome was defined by all-cause mortality, chronic ventricular assist device or heart transplantation at 1year...

Half of all children with congenital heart disease develop specific neurodevelopmental disorders. As these are influenced as much by factors intrinsic to the pathology as by the environmental and family support that the young patient receives from birth, the team at the congenital heart disease unit at Bordeaux's university hospital has devised an individualized global pathway for these families to support the neurodevelopment of these toddlers from the antenatal period onwards.

The "3 noes right-sided infective endocarditis" (3no-RSIE: no left-sided, no drug users, no cardiac devices) was first described more than a decade ago. We describe the largest series to date to characterize its clinical, microbiological, echocardiographic and prognostic profile. Eight tertiary centers with surgical facilities participated in the study. Patients with right-sided endocarditis without left sided involvement, absence of drug use history and no intracardiac electronic devices were retrospectively included in a multipurpose database...

We present the case of a young girl in whom pre-natal echocardiography showed double outlet right ventricle associated with severe infundibular- and pulmonary valve stenosis. The genetic testing has shown a mutation on the LZTR1 gene, which confirms the diagnosis of a Noonan Syndrome, also present in the mother and an elder sister. The infant was born premature at 34 weeks and 5 days of gestational age. During the neonatal period, feeding difficulties are noted linked to oral aversion and exacerbated by difficulties in the mother-child bond...

Absent pulmonary valve syndrome is a rare congenital heart disease. Associated with ventricular septal defect, it is considered a rare variant of Tetralogy of Fallot "Tetralogy of Fallot with absent pulmonary valve syndrome". It is characterized by its association with aneurysmal pulmonary arteries responsible for airways compression. Survival to adulthood of this unrepaired congenital heart disease is very rare, and the case of the patient we report in this article is added to the rare cases reported in the literature...

(1) Background: The interaction between single nucleotide variants (SNVs) associated with congenital heart diseases (CHDs) and their gene methylation status has not been well researched. The aim of the present study was to determine if there is a relationship between the methy lation status (MS) of genes and the allelic variants associated with CHDs. (2) Methods: Seven SNVs of the genes AXIN1 , TBX1 , TBX20 , and MTHFR were selected from the literature. DNA extraction, genotyping, and a methylation analysis were performed on healthy subjects and subjects with CHDs...

Thromboembolic complications in adults with congenital heart disease are frequent and responsible for significant morbidity and mortality. Their prevention frequently requires long-term thromboprophylaxis. In this article, we discuss the specificities that must be considered when stratifying the thromboembolic risk in these patients, the different therapeutic strategies, particularly the place of direct oral anticoagulants.

Cardiac Magnetic Resonance (CMR) allows an accurate Right Ventricle (RV) assessment that could be of great relevance in diseases causing inflammation or fibrosis. The aim of this study was to evaluate the concomitant involvement of the RV in patients with delayed enhancement (DE) of the Left Ventricle (LV-DE) using CMR. We retrospectively enrolled 95 (male n. 66; age 55±18years; BMI 26±5kg/m2) consecutive patients with LV-DE who underwent a CMR (Achieva 1.5 T, Philips) for different indications: post-ischemic dilated cardiopathy (PDM), hypertrophic cardiomyopathy (HCM), myocardial infarction (MI), myocarditis/pericarditis (MP) and congenital heart disease (CD)...

INTRODUCTION: Congenital heart disease (CHD) comprises the anatomic malformations that jeopardise the structure and function of the heart. It can be extremely complex and serious, corresponding to 30% of all deaths in the first month of life. The surgical approach for adequate treatment requires postoperative mechanical ventilation. The most critical decision related to the postoperative management of patients submitted to cardiac surgery is the right time for extubation, especially because not only abrupt or inadequate discontinuation of ventilatory support can lead to clinical decline and necessity of reintubation but also extended time of mechanical ventilation, which can lead to complications, such as pneumonia, atelectasis, diaphragm hypertrophy, and increasing morbidity and mortality...

BACKGROUND: Right ventricle-pulmonary artery (RV-PA) coupling is a strong prognostic marker in several clinical settings, but few studies have focused on its role in repaired tetralogy of Fallot (rToF) with pulmonary regurgitation. AIM: To assess whether differences exist in RV-PA coupling, estimated by echocardiography, between patients with rToF and pulmonary regurgitation with or without an indication for pulmonary valve replacement (PVR). METHODS: The study population included 40 patients with rToF, who were allocated to two groups: 20 with an indication for PVR (i-PVR group); and 20 without an indication for PVR (ni-PVR group)...

BACKGROUND: Coronary artery fistula (CAF) is a direct connection of one or more coronary arteries to cardiac chambers or a large vessel; it may be associated with congenital heart disease. OBJECTIVE: To establish CAF pathway patterns from echocardiographic data and to correlate them with clinical aspects and congenital heart disease. METHODS: A total of 7.183 medical records of children under the age of five years with cardiac disease submitted to color Doppler echocardiography and Spearman's Correlation test were used to associate signs and symptoms and cardiopathy to CAF with a significance level of 5%...

BACKGROUND: Congenital heart disease (CHD) is the most common congenital malformation, it is frequently found as an isolated defect, and the etiology is not completely understood. Although most of the cases have multifactorial causes, they can also be secondary to chromosomal abnormalities, monogenic diseases, microduplications or microdeletions, among others. Copy number variations (CNVs) at 22q11.2 are associated with a variety of symptoms including CHD, thymic aplasia, and developmental and behavioral manifestations...

BACKGROUND: With the growing adult congenital heart disease (ACHD) population, the number of catheter ablation procedures is expected to dramatically increase. Data reporting experience and evolution of catheter ablation in patients with ACHD, over a significant period of time, remain scarce. AIM: We aimed to describe temporal trends in volume and outcomes of catheter ablation in patients with ACHD. METHODS: This was a retrospective observational study including all consecutive patients with ACHD undergoing attempted catheter ablation in a large tertiary referral centre over a 15-year period...

[This retracts the article DOI: 10.11604/pamj.2020.37.362.17659.].

BACKGROUND: Rheumatic Heart Disease (RHD) remains one of the major causes of death and disability in developing countries. This preventable, treatable but not curable form of cardiovascular disease is needlessly killing scores of children and youth mainly due to the misunderstanding of the burden of the disease in these countries. We sought to describe the prevalence of RHD at one of the major referral cardiology clinics in Ethiopia. METHODS: This was a retrospective cross-sectional chart review of all patients referred for a cardiopathy at the Tikur Anbessa Referral Cardiac Clinic from June 2015 to August 2018...