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Respiratory Medicine Aug 2017Platypnea-Orthodeoxia syndrome (POS) is a rare clinical entity characterized by dyspnea and arterial desaturation while in the upright position. The various... (Review)
Review
Platypnea-Orthodeoxia syndrome (POS) is a rare clinical entity characterized by dyspnea and arterial desaturation while in the upright position. The various pathophysiologic mechanisms leading to POS has puzzled clinicians for years. The hypoxia in POS has been attributed to the mixing of the deoxygenated venous blood with the oxygenated arterial blood via a shunt. The primary mechanisms of POS in these patients can be broadly classified based on intracardiac abnormalities, extracardiac abnormalities and miscellaneous etiologies. A Patent Foramen Ovale (PFO) was the most common reported site of an intracardiac shunt. In addition to PFO, intracardiac shunt leading to POS has been reported from either an Atrial Septal Defect (ASD) or an Atrial Septal Aneurysm (ASA). Most patients with an intracardiac shunt also demonstrated a secondary anatomic or a functional defect. Extracardiac causes of POS included intra-pulmonary arteriovenous malformations and lung parenchymal diseases. A systematic evaluation is necessary to identify the underlying cause and institute an appropriate intervention. We conducted a review of literature and reviewed 239 cases of POS. In this article, we review the etiology and pathophysiology of POS and also summarize the diagnostic algorithms and treatment modalities available for early diagnosis and prompt treatment of patients presenting with symptoms of platypnea and/or orthodeoxia.
Topics: Dyspnea; Foramen Ovale, Patent; Heart Septal Defects, Atrial; Hepatopulmonary Syndrome; Humans; Hypoxia; Lung; Parenchymal Tissue; Posture
PubMed: 28732833
DOI: 10.1016/j.rmed.2017.05.016 -
Cardiology 2019
Topics: Cardiac Catheterization; Echocardiography, Transesophageal; Heart Septal Defects, Atrial; Humans; Septal Occluder Device
PubMed: 31117079
DOI: 10.1159/000496348 -
Journal of Stroke and Cerebrovascular... Jun 2024Paradoxical embolism from right-to-left shunt through atrial septal defect (ASD) and patent foramen ovale (PFO) is a well-accepted cause of "cryptogenic" strokes (CS).... (Comparative Study)
Comparative Study
OBJECTIVES
Paradoxical embolism from right-to-left shunt through atrial septal defect (ASD) and patent foramen ovale (PFO) is a well-accepted cause of "cryptogenic" strokes (CS). To better understand the pathogenic role of ASD, we compared ASD patients with CS having a high and low likelihood of being PFO-related.
METHODS
In the Acute Stroke Registry and Analysis of Lausanne, we calculated prevalence of PFO and ASD in CS patients undergoing echocardiography, and calculated odds ratios (OR) when compared to non-CS. Using the Risk of Paradoxical Embolism (RoPE) score, we divided CS PFO patients in high (HL-PFO, RoPE 8-10) and low-likelihood (LL-PFO, RoPE 0-4) PFO-related stroke. We then performed univariate comparison of epidemiological, clinical and radiological variables of ASD patients with both PFO groups.
RESULTS
Among all CS, prevalence of ASD and PFO were 1.3% and 36.8% respectively. When compared to non-CS, ASD and PFO were associated with CS (OR of 5.2, CI= 1.6-16.6, and 2.8, CI= 2.1-3.8). Compared with HL-PFO, ASD patients were older, more often female, had more cardiovascular risk factors and silent strokes. Compared with LL-PFO, ASD patients were younger, more often female, and had less risk factors. No differences were found for clinical and radiological characteristics and clinical outcome.
CONCLUSION
ASD is a rare stroke risk factor for CS. Since characteristics of such patients lie in-between high and low-likelihood paradoxical PFO-strokes, a thorough work-up for other stroke mechanisms is warranted. Individual evaluation of the likelihood of the ASD being causative for stroke may be preferable over routine ASD closure.
Topics: Humans; Foramen Ovale, Patent; Female; Male; Heart Septal Defects, Atrial; Risk Factors; Middle Aged; Prevalence; Aged; Registries; Embolism, Paradoxical; Risk Assessment; Adult; Stroke
PubMed: 38428550
DOI: 10.1016/j.jstrokecerebrovasdis.2024.107664 -
JACC. Cardiovascular Interventions Feb 2022
Topics: Cardiac Catheterization; Echocardiography, Transesophageal; Heart Septal Defects, Atrial; Humans; Hypertrophy; Prosthesis Design; Septal Occluder Device; Treatment Outcome
PubMed: 34838468
DOI: 10.1016/j.jcin.2021.09.040 -
Congenital Heart Disease May 2016Atrial septal defect (ASD) is the second most common congenital heart defect (CHD) and is observed in families as an autosomal dominant trait as well as in nonfamilial... (Review)
Review
OBJECTIVE
Atrial septal defect (ASD) is the second most common congenital heart defect (CHD) and is observed in families as an autosomal dominant trait as well as in nonfamilial CHD. Mutations in the NKX2-5 gene, located on chromosome 5, are associated with ASD, often combined with conduction disturbances, cardiomyopathies, complex CHD, and sudden cardiac death as well. Here, we show that NKX2-5 mutations primarily occur in ASD patients with conduction disturbances and heritable ASD. Furthermore, these families are at increased risk of sudden cardiac death.
RESULTS
We screened 39 probands with familial CHD for mutations in NKX2-5 and discovered a novel mutation in one family (2.5%) with ASD and atrioventricular block. A review of the literature revealed 59 different NKX2-5 mutations in 202 patients. Mutations were significantly more common in familial cases compared to nonfamilial cases (P = 7.1 × 10(-9) ). The majority of patients (74%) had ASD with conduction disturbance. Nineteen patients (15%) of 120 with familial ASD and conduction disturbance died from sudden cardiac death of which nine (8%) were confirmed mutation carriers, and 10 were possible carriers.
CONCLUSIONS
NKX2-5 mutations mainly occur in familial CHD, the signature phenotype is ASD with conduction disturbances and mutation carriers are at increased risk of sudden cardiac death. We suggest that familial ASD patients should be screened for NKX2-5 mutations and, if they are mutation carriers, implantation of an implantable cardioverter-defibrillator should be considered in these patients.
Topics: Adult; Arrhythmias, Cardiac; Child; Child, Preschool; Death, Sudden, Cardiac; Female; Genetic Association Studies; Genetic Predisposition to Disease; Heart Septal Defects, Atrial; Heredity; Heterozygote; Homeobox Protein Nkx-2.5; Humans; Infant; Male; Mutation; Pedigree; Phenotype; Prognosis; Retrospective Studies; Risk Assessment; Risk Factors; Young Adult
PubMed: 26679770
DOI: 10.1111/chd.12317 -
ESC Heart Failure Feb 2021Potts shunt has been proposed as a bridge or alternative to lung transplantation for children with severe and drug-refractory suprasystemic pulmonary arterial...
AIMS
Potts shunt has been proposed as a bridge or alternative to lung transplantation for children with severe and drug-refractory suprasystemic pulmonary arterial hypertension (PAH). We describe the management of the atrial shunt when a Potts shunt is planned in refractory PAH.
METHODS AND RESULTS
We report a case series of children in whom a Potts shunt was done for severe PAH associated with an atrial septal defect to illustrate the different clinical and haemodynamic scenarios. Five children (2 to 13 years) underwent a Potts shunt: three surgical, one percutaneous Potts shunt, and one percutaneous stenting of a restrictive arterial duct. All had associated atrial septal defect. Those who had generalized cyanosis before the procedure had a complicated postoperative course and required longer ventilatory and inotropic support, except the one who had atrial septal defect closure before the Potts shunt. One of the three cyanotic patients died. Two patients with left-to-right shunt before the Potts shunt had an uncomplicated postoperative course.
CONCLUSIONS
Shunt physiology is only partially predictable after the Potts shunt in children with PAH and atrial septal defect. Abrupt drop in left ventricle preload while the right ventricle is decompressed can potentially be prevented by atrial septal defect closure prior to the Potts shunt.
Topics: Anastomosis, Surgical; Child; Heart Septal Defects, Atrial; Humans; Hypertension, Pulmonary; Pulmonary Arterial Hypertension; Pulmonary Artery
PubMed: 33216469
DOI: 10.1002/ehf2.13074 -
Multimedia Manual of Cardiothoracic... Nov 2021Atrial septal defect accounts for 10-15% of congenital heart disease cases. Small-diameter atrial septal defects diagnosed during infancy or early adulthood are prone to...
Atrial septal defect accounts for 10-15% of congenital heart disease cases. Small-diameter atrial septal defects diagnosed during infancy or early adulthood are prone to spontaneous closure, whereas uncorrected, persistent moderate or large atrial septal defects can induce left-to-right shunting, which causes volume overload, heart failure, atrial arrhythmia, and/or pulmonary hypertension starting between the third and fourth decades of life. We describe in detail our technique for totally endoscopic, robotic-assisted atrial septal defect repair.
Topics: Adult; Endoscopy; Heart Septal Defects, Atrial; Humans; Robotic Surgical Procedures; Robotics; Treatment Outcome
PubMed: 34767697
DOI: 10.1510/mmcts.2021.074 -
JPMA. the Journal of the Pakistan... Feb 2022To assess immediate outcome and complications of Amplatzer septal occluder percutaneous device for closure of secundum atrial septal defect in adults, and to determine... (Observational Study)
Observational Study
OBJECTIVE
To assess immediate outcome and complications of Amplatzer septal occluder percutaneous device for closure of secundum atrial septal defect in adults, and to determine regression in right ventricular size, reduced pulmonary arterial systolic pressure and incidence of device embolization at follow-up.
METHODS
The single-cohort, ambi-directional, observational study was conducted at the Tabba Heart Institute, Karachi, from January 2013 to July 2018, and comprised patients admitted consecutively for percutaneous atrial septal defect closure. Pre-closure trans-oesophageal echocardiogram was performed in all cases to ensure adequacy of defect margins necessary for device stability. Immediate procedure success and complications were determined by trans-oesophageal echocardiogram, while transthoracic echo was done on follow-up. Data was analysed using SPSS 21.
RESULTS
Of the 64 patients, 41(71.9%) were females. The overall mean age was 36.6±14 years. Median size of atrial septal defect was 21mm (interquartile range: 17-26mm). Immediate success was observed in 59(92.2%) patients, and there were 5(8%) acute device embolization events. Small residual atrial septal defect was found in 4(6.3%) cases. On 20-month follow-up, 54(84.4%) patients showed improved symptoms. Repeat transthoracic echo was performed in 39(60.1%) cases, and there were no late embolic events or residual atrial septal defect. Right ventricular size normalized in 34(89.5%) cases, mean pulmonary arterial systolic pressure reduced significantly compared to pre-closure measurement (p<0.001).
CONCLUSIONS
Percutaneous atrial septal defect closure was found to be safe and effective in adults with secundum atrial septal defect. Timely closure resulted in improved symptoms, right ventricular remodelling and reduced pulmonary arterial systolic pressure at intermediate-term follow-up.
Topics: Adult; Embolization, Therapeutic; Female; Heart Septal Defects, Atrial; Humans; Incidence; Middle Aged; Septal Occluder Device; Treatment Outcome; Young Adult
PubMed: 35320204
DOI: 10.47391/JPMA.106 -
International Heart Journal 2022In patients with atrial septal defect (ASD), atrial left-to-right shunting causes left atrial (LA) remodeling and dysfunction, leading to atrial fibrillation (AF). In...
In patients with atrial septal defect (ASD), atrial left-to-right shunting causes left atrial (LA) remodeling and dysfunction, leading to atrial fibrillation (AF). In adults with ASD and concomitant AF, LA function should be evaluated after ASD closure plus AF radiofrequency catheter ablation (RFCA).This multicenter retrospective cohort study included patients who underwent transcatheter ASD closure at one of the four leading hospitals. Patients with a history of AF also underwent preceding RFCA. The association between AF history and LA ejection fraction (EF) (indicating LA global function) at 6-12 months following ASD closure was evaluated. To account for differences in baseline characteristics between patients with and without a history of AF, we conducted the following statistical methods: (1) multivariate regression analysis in the prepropensity score (PS)-matched cohort and (2) univariate comparisons in the PS-matched cohort.Overall, this study included 231 patients (30 with AF history, 201 without). Multiple regression analysis showed that AF history was independently associated with impaired LAEF (β = -10.425, P < 0.001, model created prior to propensity matching). A one-to-one PS matching (25 pairs) showed that the LAEF at 6-12 months following ASD closure was significantly impaired in patients with ASD and AF history compared to that in patients without history of AF (median LAEF, 37.5% (interquartile range [IQR] 29.4%-48.5%) versus 52.3 [IQR 50.0%-56.6%]; P < 0.001).LA function was impaired in patients with ASD and a history of AF at 6-12 months after successful transcatheter ASD closure and on maintenance of sinus rhythm by RFCA.
Topics: Adult; Atrial Fibrillation; Atrial Function, Left; Atrial Remodeling; Catheter Ablation; Heart Septal Defects, Atrial; Humans; Retrospective Studies; Treatment Outcome
PubMed: 36184548
DOI: 10.1536/ihj.22-265 -
Circulation Journal : Official Journal... Aug 2021Percutaneous atrial septal defect (ASD) closure is the treatment of choice for patients with a suitable ASD anatomy; however, the procedural characteristics and outcomes...
BACKGROUND
Percutaneous atrial septal defect (ASD) closure is the treatment of choice for patients with a suitable ASD anatomy; however, the procedural characteristics and outcomes in children aged <6 years are unclear. The feasibility and safety of percutaneous ASD closure in children aged <6 years was evaluated and the predictors of procedural failure and challenging cases were identified.Methods and Results:Patients from a single center between 2006 and 2018 (n=407) were retrospectively evaluated. There were 265 (65.1%) female patients. The median age at the time of the procedure and ASD size were 3.4 (0.9-5.9) years and 13.3 (3.8-27.0) mm, respectively. Medical records and echocardiographic images were analyzed. A challenging case was indicated by the use of non-conventional techniques. The procedure was completed in 399 patients (98.0%). Post-procedural acute complications occurred in 5 patients, including 1 with device embolization. Two patients underwent surgical device removal. During the follow up (30.3 [3.6-140.8] months), aggravated mitral regurgitation occurred in 5 patients. A multivariate logistic regression revealed large-sized ASD as a predictor of procedural failure (odds ratio=1.828, 95% confidence interval: 1.139-2.934, P=0.012) and challenging cases (odds ratio=1.371, 95% confidence interval: 1.180-1.593, P<0.001).
CONCLUSIONS
Percutaneous ASD closure is feasible and safe in children aged <6 years; however, patients with large-sized ASD are at high risk of procedural failure and becoming a challenging case.
Topics: Cardiac Catheterization; Child; Echocardiography; Female; Heart Septal Defects, Atrial; Humans; Retrospective Studies; Treatment Outcome
PubMed: 33883381
DOI: 10.1253/circj.CJ-20-1023