Search Results (16)

Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterised by progressive fibrosis predominantly of the right ventricular (RV) myocardium, resulting in life-threatening arrhythmias and heart failure. The diagnosis is challenging due to a wide spectrum of clinical symptoms. The important role of ECG was covered in the current diagnostic criteria. The role of the epsilon wave (EW) is still under discussion. Aim: The aim of the study was to examine a potential association between the EW and late ventricular potentials (LPs) in ARVC patients (pts). The correlation between RV dilatation or dysfunction and LPs/EW was also analysed. Methods: The ARVC group consisted of 81 pts (53 men, aged 20–78 years) fulfilling 2010 International Task Force Criteria. 12-lead ECG, LPs, Holter, and ECHO were performed in all pts. The presence of EW was analysed in ECG by 3 investigators. LPs were detected by signal-averaged ECG (SAECG). SAECG was considered positive for LPs when at least two of the three following criteria were met: (1) the filtered QRS duration (fQRS) ≥ 114 msec; (2) the duration of the final QRS fragment in which low-amplitude signals lower than 40 μV are recorded (LAS-40 > 38 msec); and (3) the root mean square amplitude of the last 40 milliseconds of the fQRS complex (RMS-40 < 20 μV). The results were compared with a reference group consisting of 53 patients with RV damage in the course of atrial septum defect (ASD) or Ebstein’s Anomaly (EA). Results: In the ARVC group, a significant relationship was observed between the occurrence of EW and the presence of LPs. EW was more common in the LP+ than in the LP- patients (48.1% vs. 6.9%, p < 0001; OR 12.5; 95% CI [2.691–58.063]). In ARVC pts, RVOT > 36 mm, RVIT > 41 mm, and RV S’ < 9 cm/s were observed significantly more often in the LPs+ than in the LPs− group (OR [95% CI]: 8.3 [2.9–1.5], 6.4 [2.2–19.0] and 3.6 [1.1–12.2], respectively). In the ARVC group, any of fQRS > 114 ms, LAS > 38 ms, and RMS < 20 μV were significantly more frequent in EW+ pts. In multivariate analysis, the independent factors of the EW were LAS-40 and RV S’. In the LPs− subgroup, RVOT > 36 mm was more frequent in ASD/EA than in ARVC (70.4% vs. 25%, p = 0.002). Similarly, in the LPs− subgroup, RVIT > 41 mm was encountered more frequently in ASD/EA than in ARVC (85.2% vs. 48.3%, p = 0.004). Conclusions: In ARVC, there is an association between EW and LPs, with both probably resulting from the same process of fibrofatty substitution of the RV myocardium. Although RV dilatation is common in ASD and EA, it does not correlate with LPs. Full article

Proteomics studies often explore phenotypic differences between whole organs and systems. Within the heart, more subtle variation exists. To date, differences in the underlying proteome are only described between whole cardiac chambers. This study, using the bovine heart as a model, investigates inter-regional differences and assesses the feasibility of measuring detailed, cross-tissue variance in the cardiac proteome. Using a bovine heart, we created a two-dimensional section through a plane going through two chambers. This plane was further sectioned into 4 × 4 mm cubes and analysed using label-free proteomics. We identified three distinct proteomes. When mapped to the extracted sections, the proteomes corresponded largely to the outer wall of the right ventricle and secondly to the outer wall of the left ventricle, right atrial appendage, tricuspid and mitral valves, modulator band, and parts of the left atrium. The third separate proteome corresponded to the inner walls of the left and right ventricles, septum, and left atrial appendage. Differential protein abundancies indicated differences in energy metabolism between regions. Data analyses of the mitochondrial proteins revealed a variable pattern of abundances of complexes I–V between the proteomes, indicating differences in the bioenergetics of the different cardiac sub-proteomes. Mapping of disease-associated proteins interestingly showed desmoglein-2, for which defects in this protein are known to cause Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy, which was present predominantly in the outer wall of the left ventricle. This study highlights that organs can have variable proteomes that do not necessarily correspond to anatomical features. Full article

Sinus venosus atrial septal defects (SVASDs), concurrent with partial anomalous pulmonary venous connections (PAPVCs), are a rare congenital heart disease in dogs. Surgical correction is essential when clinical signs or significant hemodynamic changes are present. We aimed to report on the successful surgical correction of an SVASD with PAPVCs, using a computed tomography (CT)-based customized 3D cardiac model. A 10-month-old male poodle was referred for corrective surgery for an ASD. Echocardiography confirmed a hemodynamically significant left-to-right shunting flow through an interatrial septal defect and severe right-sided heart volume overload. For a comprehensive diagnosis, a CT scan was performed, which confirmed an SVASD with PAPVCs. A customized 3D cardiac model was used for preoperative decision-making and surgical rehearsal. The defect was repaired using an autologous pericardial patch under a cardiopulmonary bypass (CPB). Temporary pacing was applied for sinus bradycardia and third-degree atrioventricular block. The patient recovered from the anesthesia without further complications. The pacemaker was removed during hospitalization and the patient was discharged without complications 2 weeks post-surgery. At the three-month follow-up, there was no shunting flow in the interatrial septum and the right-sided volume overload had been resolved. The cardiac medications were discontinued, and there were no complications. This report indicates the validity of surgical correction under CPB for an SVASD with PAPVCs, and the advantages of utilizing a CT-based 3D cardiac model for preoperative planning to increase the surgical success rate. Full article

Cor triatriatum is a very rare cardiac malformation characterized by the presence of an abnormal interatrial membrane separating either the left or right atrial chamber into two compartments. It can be associated with other cardiac defects and is often symptomatic in childhood. The signs depend on the size and position of the interatrial membrane and other associated malformations. Here we report a case of right-sided cor triatriatum associated with an ostium primum-type interatrial septum defect and left-sided opening of the coronary sinus in a fetus. The cause of intrauterine death was asphyxia due to total placental abruption. Full article

Ebstein anomaly is a rare heterogeneous congenital heart defect (CHD) with a largely unknown etiology. We present a 6-year-old girl with Ebstein anomaly, atrial septum defect, hypoplastic right ventricle, and persistent left superior vena cava who has a de novo intragenic ~403 kb deletion of the GDP-mannose 4,6-dehydratase (GMDS) gene. GMDS is located on chromosome 6p25.3 and encodes the rate limiting enzyme in GDP-fucose synthesis, which is used to fucosylate many proteins, including Notch1, which plays a critical role during mammalian cardiac development. The GMDS locus has sporadically been associated with Ebstein anomaly (large deletion) and tetralogy of Fallot (small deletion). Given its function and the association with CHD, we hypothesized that loss-of-function of, or alterations in, GMDS could play a role in the development of Ebstein anomaly. We collected a further 134 cases with Ebstein anomaly and screened them for genomic aberrations of the GMDS locus. No additional GMDS genomic aberrations were identified. In conclusion, we describe a de novo intragenic GMDS deletion associated with Ebstein anomaly. Together with previous reports, this second case suggests that GMDS deletions could be a rare cause for congenital heart disease, in particular Ebstein anomaly. Full article

Infective endocarditis (IE) is common in patients with corrected congenital heart disease (CHD) with a residual lesion, but is rarely found on surgical patches used to close atrial septal defects (ASDs). This is also reflected in the current guidelines that do not recommend antibiotic therapy for patients with a repaired ASD with no residual shunt six months after closure (percutaneous or surgical). However, the situation could be different in the case of mitral valve endocarditis, which causes leaflet disruption with severe mitral insufficiency and could seed the surgical patch. We present herein a 40-year-old male patient with a past medical history of a complete surgically corrected atrioventricular canal defect performed in childhood who presented with fever, dyspnea and severe abdominal pain. Transthoracic and transesophageal echocardiography (TTE and TEE) revealed vegetation at the level of the mitral valve and the interatrial septum. The CT scan confirmed ASD patch endocarditis and multiple septic emboli, guiding the therapeutic management. An accurate evaluation of cardiac structures should be mandatory when a systemic infection is detected in CHD patients, even if the defects were surgically corrected, because the detection and eradication of such infectious foci as well as a surgical reintervention are particularly difficult to achieve in this subpopulation. Full article

Fetal echocardiography is an excellent tool for accurately assessing the anatomy and physiology of most congenital heart defects (CHDs). Knowledge gathered from a thorough initial fetal echocardiogram and serial assessment assists with appropriate perinatal care planning, resulting in improved postnatal outcomes. However, fetal echocardiography alone provides limited information about the status of the pulmonary vasculature, which can be abnormal in certain complex CHDs with obstructed pulmonary venous flow (hypoplastic left heart syndrome with restrictive atrial septum) or excessive pulmonary artery flow (d-transposition of the great arteries, usually with a restrictive ductus arteriosus). Fetuses with these CHDs are at high risk of developing severe hemodynamic instability with the immediate transition from prenatal to postnatal circulatory physiology at the time of birth. Adjunctive use of acute maternal hyperoxygenation (MH) testing in such cases can help determine pulmonary vascular reactivity in prenatal life and better predict the likelihood of postnatal compromise and the need for emergent intervention. This comprehensive review discusses the findings of studies describing acute MH testing in a diverse spectrum of CHDs and congenital diagnoses with pulmonary hypoplasia. We review historical perspectives, safety profile, commonly used clinical protocols, limitations, and future directions of acute MH testing. We also provide practical tips on setting up MH testing in a fetal echocardiography laboratory. Full article

(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. (3) Results: Twenty-two subjects with CHDs were selected as the case group (15 with ventricular septal defects (VSDs) and 7 with atrial septal defects (ASDs)), and 44 healthy subjects comprised the control group. The MTHFR and AXIN1 genes were hypermethylated in the control group when compared to the case group. When analyzed separately, those with atrial septum defects exhibited greater methylation, except for the gene MTHFR where there were no differences. Only the alternate alleles of MTHFR showed a significantly different methylation status in those without cardiopathy. (4) Conclusions: The MTHFR and AXIN genes were hypermethylated in the control group; however, only the alternate alleles of MTHFR (rs1801133 and rs1801131) showed a significantly different methylation status. Full article

Background. The inadvertent lead malposition in the left heart (ILMLH) is an under-recognized event, which may complicate the implantation of cardiac electronic devices (CIEDs). Methods. We investigated the clinical conditions associated with ILMLH and the treatment strategies in these patients. We made a systematic review of the literature and identified 132 studies which reported 157 patients with ILMLH. Results. The mean age of patients was 68 years, and 83 were women. ILMLH was diagnosed, on average, 365 days after CIEDs implantation. Coexisting conditions were patent foramen ovale in 29% of patients, arterial puncture in 24%, perforation of the interatrial septum in 20%, atrial septal defect in 16% and perforation of the interventricular septum in 4%. At the time of diagnosis of ILMLH, 46% of patients were asymptomatic, 31% had acute TIA or stroke and 15% had overt heart failure. Overall, 14% of patients were receiving anticoagulants at the time of diagnosis of ILMLH. After diagnosis of ILMLH, percutaneous or surgical lead extraction was carried out in 93 patients (59%), whereas 43 (27%) received anticoagulation. During a mean 9-month follow-up after diagnosis of ILMLH, four patients experienced TIA or stroke (three on oral anticoagulant therapy and one after percutaneous lead extraction). Conclusion. ILMLH is a rare complication, which is usually diagnosed about one year after implantation of CIEDs. An early diagnosis of ILMLH is important. Lead extraction is a safe and effective alternative to anticoagulants. Full article

(1) Background globe. The etiology of CHDs is complex and involves both genetic and non-genetic factors. Although, significant progress has been made in deciphering the genetic components involved in CHDs, recent reports have revealed that mutations in Nk2 homeobox5 (NKX2-5) and actin alpha cardiac muscle1 (ACTC1) genes play a key role in CHDs such as atrial and ventricular septum defects. Therefore, the present study evaluates the role of key hotspot mutations in NKX2-5 and ACTC1 genes of congenital cardiac septal defect (CCSD) in ethnic Kashmiri population. (2) Methods: A total of 112 confirmed CHD patients were included in the current study, of which 30 patients were evaluated for mutational analysis for hotspot mutations of NKX2-5 and ACTC1 genes. The total genomic DNA was extracted from the samples (cardiac tissue/blood) and were subjected to amplification for NKX2-5 (exon 1 and 2), and ACTC1 (exon 2) genes by using PCR specific primers to analyze the hotspot mutations in respective exons. The amplified products obtained were sent to Macrogen Korea for sequencing by Sanger’s method. (3) Results: Our results confirmed that not a single mutation was found in either hotspot exon 1 and 2 of NKX2-5 and exon 2 of ACTC1 in the patients included in the current study. Interestingly, a novel synonymous nucleotide variation leading to G > C transversion (GCG > GCC) was found in exon 2 of NKX2-5 gene of CCSD patient. (4) Conclusions: The current findings demonstrated the role of NKX2-5 and ACTC1 in cardiac development. The study will provide an insight in understanding the genetic etiology and highlights the role of newly identified mutations in patients with CDS’s in ethnic Kashmiri population. In silico findings revealed amino acid changes, splice site variation and the creation of new site. Furthermore, the study warrants complete screening of genes involved in CCSDs. Full article

The atrial septal defect is, after bicuspid aortic valve disease, the most common congenital cardiac disease present in the adult population. The most common atrial septal defects are the ostium secundum type (75–80%), followed by the ostium primum type (15%). The sinus venosus atrial septal defects (SV-ASD), defined as a communication in the posterior part of the interatrial septum, account for about 5 to 10% of atrial septal defects. Approximately 90% of SV-ASDs are associated with partial anomalous pulmonary venous drainage (PAPVD). The minimally invasive approach has gained ground in the treatment of ASDs, especially those of the ostium secundum type. The sinus venosus type is a relatively uncommon form of ASD, which, when associated with a PAPVD, is considered a complex cardiac malformation, and is usually treated in a classical manner, through median sternotomy. We describe the case of a 45-year-old woman diagnosed in adolescence with SV-ASD with PAPVD, who successfully underwent minimally invasive repair with fresh autologous pericardial patch reconstruction through an anterolateral mini-thoracotomy incision. The patient presented with shortness of breath and fatigue after heavy exertions, episodes of paroxysmal nocturnal dyspnea, palpitations during effort and at rest, and had a history of syncope dating from 17 years previously. Echocardiography revealed an SV-ASD with PAPVD in the right atrium and the intraoperative examination discovered that both right pulmonary veins were draining into the superior vena cava. Full article

Patent foramen ovale (PFO) is a common congenital atrial septal defect with an incidence of 15–35% in the adult population. The development of the interatrial septum is a process that begins in the fourth gestational week and is completed only after birth. During intrauterine life, the foramen ovale allows the passage of highly oxygenated blood from the right to the left atrium and into the systemic arteries, thus bypassing the pulmonary circulation. In 75% of the general population, the foramen ovale closes after birth, and only an oval depression, called fossa ovalis, remains on the right side of the interatrial septum. Patent foramen ovale can be associated with various clinically important conditions, including migraine and stroke, or decompression illness in divers. The aim of this review is to summarize the PFO developmental and anatomical features and to discuss the clinical risks associated with this atrial septal defect in adults. Full article

Background: The vestibular atrial septal defect is an interatrial communication located in the antero-inferior portion of the atrial septum. Reflecting either inadequate muscularization of the vestibular spine and mesenchymal cap during development, or excessive apoptosis within the developing antero-inferior septal component, the vestibular defect represents an infrequently recognized true deficiency of the atrial septum. We reviewed necropsy specimens from three separate archives to establish the frequency of such vestibular defects and their associated cardiac findings, providing additional analysis from developing mouse hearts to illustrate their potential morphogenesis. Materials and methods: We analyzed the hearts in the Farouk S. Idriss Cardiac Registry at Ann and Robert H. Lurie Children’s Hospital in Chicago, IL, the Van Mierop Archive at the University of Florida in Gainesville, Florida, and the archive at Johns Hopkins All Children’s Heart Institute in St. Petersburg, Florida, identifying all those exhibiting a vestibular atrial septal defect, along with the associated intracardiac malformations. We then assessed potential mechanisms for the existence of such defects, based on the assessment of 450 datasets of developing mouse hearts prepared using the technique of episcopic microscopy. Results: We analyzed a total of 2100 specimens. Of these, 68 (3%) were found to have a vestibular atrial septal defect. Comparable defects were identified in 10 developing mouse embryos sacrificed at embryonic data 15.5, by which stage the antero-inferior component of the atrial septum is usually normally formed. Conclusion: The vestibular defect is a true septal defect located in the muscular antero-inferior rim of the oval fossa. Our retrospective review of autopsied hearts suggests that the defect may be more common than previously thought. Increased awareness of the location of the defect should optimize its future clinical identification. We suggest that the defect exists because of failure, during embryonic development, of union of the components that bind the leading edge of the primary atrial septum to the atrioventricular junctions, either because of inadequate muscularisation or excessive apoptosis. Full article

The author’s contribution up to 1990 was reviewed in part I and the echo contributions from 1991 to 2020 will be reviewed in part II. These include defining the relationship between the quantity of shunt across the atrial septal defect (ASD) and the diameter of ASD by echo and angio on the one side and the stretched diameter of the ASD on the other; echocardiographic assessment of balloon-stretched diameter of secundum ASDs; development of echocardiographic predictors of accomplishment of percutaneous closure of ASDs with the buttoned device, highlighting limitations of echocardiography in comprehensive assessment of mixed type of total anomalous pulmonary venous connection; description of follow-up echocardiographic results of transcatheter closure of ASD with buttoned device; review of ultrasound studies; depiction of collaborative echocardiographic and Doppler studies; echocardiographic appraisal of the outcome of balloon pulmonary valvuloplasty; editorials; ventricular septal aneurysm causing pulmonary outflow tract obstruction in the morphologic left ventricle in corrected transposition of the great arteries; dependability of echocardiographic assessment of angiographic minimal diameter of the ductus; occurrence of supravalvular pulmonary artery stenosis after a Nuss procedure; echocardiographic assessment of neonates who were suspected of having heart disease; role of echocardiographic studies in the appraisal of patent ductus arteriosus in the premature babies; and the role of pressure recovery in explaining differences between simultaneously measured Doppler and cardiac catheterization pressure gradients across outflow tract stenotic lesions. Full article

Stroke is a rare but possible complication after atrial fibrillation (AF) ablation. However, its etiopathogenesis is far from being completely characterized. Here we report a case of stroke, with recurrent peripheral embolism after AF ablation procedure. In our patient, an in situ femoral vein thrombosis and iatrogenic atrial septal defect were simultaneously detected. A comprehensive review of multiple pathophysiological mechanisms of stroke in this context is provided. The case underlines the importance of a global evaluation of patients undergoing AF ablation. Full article