Prenatal diagnosis of coronary artery fistula: a case report and review of literature.
Ontology highlight
ABSTRACT:
SUBMITTER: Nagiub M
PROVIDER: S-EPMC4239146 | biostudies-other | 2014 Nov
REPOSITORIES: biostudies-other
Similar Datasets
Project description:Coronary artery fistulas are rare abnormal connections between a coronary artery and a cardiac chamber or a major vessel. Often, they are asymptomatic and the diagnosis is accidental. The case we present is the incidental finding of a fistula displayed with echocardiography during acute coronary syndrome (ACS). A 73-year-old man presented in the emergency room for non-ST-elevation ACS. Echocardiogram showed in a parasternal short axis view an abnormal diastolic flow inside the ventricular inferior wall. Angiography and CT confirmed the diagnosis of coronary fistula from the right coronary into the left ventricular cavity. A literature analysis with discussion about coronary fistulas classification and management was also performed.
| S-EPMC6710726 | biostudies-literature
Project description:Being a very rare cardiac disease, most cases of coronary artery fistula (CAF) are genetic. Complications such as coronary steal syndrome, myocardial infarction, heart failure, or tamponade can manifest following the abnormal communication that the fistula creates between the coronary arteries and cardiac chambers or major vessels and the subsequent shunt. Most CAFs are small and asymptomatic, making diagnosis difficult. In symptomatic patients, the initial diagnostic workup is generally made with chest radiography and electrocardiography. Other imaging modalities have also been suggested to improve diagnostic accuracy. Cardiac catheterization and coronary angiography are currently the gold standard for diagnosis and planning the intervention, as they can recognize the quantum of the shunt as well as complications of a fistulous track (e.g., aneurysm formation, thrombus, leak, and the number of openings to the receiving chamber/vessel); however, this invasive method may be associated with risk. Herein, we report two patients with giant CAFs, one from the left circumflex artery to the coronary sinus and the other to the superior vena cava. Moreover, we describe how multimodal imaging, including two- and three-dimensional transesophageal echocardiography, coronary cineangiography, coronary computed tomography angiography, and enhanced chest computed tomography, can facilitate diagnosis and estimate the disease course in such patients. We believe that using multimodal imaging cannot only help the initial diagnosis regarding the presence of a CAF and the accurate anatomical site of the fistula in the patient but can also help predict the disease course and choose the most suitable treatment modality. Therefore, we suggest multimodal imaging be done to diagnose patients suspected of CAF. However, invasive cineangiography should be necessarily followed, regardless of whether an intervention is planned or not.
| S-EPMC9644096 | biostudies-literature
Project description:This is a case report of a 53-year-old woman who presented to our hospital in 2011 with an intermittent cough and dyspnea for 5 years. The chest X-ray showed a prominent left hilum and a smaller right lung. Computed tomography (CT) of the chest confirmed the absence of the right pulmonary artery (PA) and the right cardiac catheterization showed a mean PA pressure of 34 mmHg. Concomitant asthma and unilateral absence of pulmonary artery (UAPA) were diagnosed. In the following years, her functional class remained stable under medications including low-dose sildenafil and spironolactone. In 2020, she developed mild intermittent chest tightness and the coronary angiography showed a fistula between the proximal left circumflex coronary artery and right pulmonary circulation. She declined further intervention for her coronary-pulmonary artery fistula (CPAF) and her symptoms improved spontaneously. To our knowledge, only 16 similar cases with combined UAPA and CPAF in adults have been reported in the literature, of which, pulmonary hypertension was documented in nine patients (56.3%).
| S-EPMC9679234 | biostudies-literature
Project description:BackgroundCoronary artery-to-pulmonary artery fistula is a rare disorder characterized by abnormal vascular communication between the coronary artery and pulmonary artery. While most patients remain asymptomatic, some might exhibit symptoms of myocardial ischemia, congestive heart failure, or even sudden cardiac death if coronary aneurysm, thrombosis, infective carditis, or other congenital cardiac defects coexist. Case presentation We present a 66-year-old male complaining of angina pectoris with a history of hypertension and active smoking. He was diagnosed with a coronary aneurysm based on coronary computed tomography angiography. We subsequently identified a coronary artery-to-pulmonary artery fistula with giant aneurysmal dilation on coronary angiography. Ultimately we conducted surgery ligation and aneurysmorrhaphy. During surgery, we discovered newly formed thrombus within the aneurysmal cavity. Histological analysis of the aneurysmal wall supported the diagnosis of the congenital disorder. Our patient was successfully discharged and remained asymptomatic at two months of follow-up.ConclusionWe presented a rare and complex combination of congenital coronary artery-to pulmonary artery fistula, giant coronary aneurysmal dilatation, and thrombosis through multi-modality evaluations.
| S-EPMC8176730 | biostudies-literature
Project description:BACKGROUND:The combination of multiple giant coronary artery aneurysms (CAAs) and right coronary artery (RCA) to pulmonary artery (PA) fistula is extremely rare and the patients with CAAs may suffer from several fatal complications. We herein describe a 60-year-old female with hemodynamic instability who was diagnosed with multiple giant CAAs combined with RCA-PA fistula. CASE PRESENTATION:The patient, a 60-year-old female, presented to the emergency room because of progressive exertional chest distress and fatigue. The transthoracic echocardiography (TTE), coronary computed tomography angiography (CTA) and invasive coronary angiography confirmed the existence of multiple giant CAAs and RCA-PA fistula. Laboratory examinations for systemic vasculitis and infectious diseases demonstrated no abnormalities and work-up for childhood and family history were negative. We have performed a successful surgical treatment for this patient. The patient's restrictive cardiac dysfunction was improved after debriding the advanced thrombi in aneurysm sac and ligating the fistulous vessel between the native RCA and PA. The postoperative pathologic examination of the aneurysmal wall revealed loss of smooth muscle cells in the media with local mucoid degeneration, no chronic inflammation, sclerosis and IgG4 were observed. CONCLUSIONS:The treatment decision-making process should depend upon the patients' specific situations. Our case suggests the surgical intervention should be accepted as the preferred treatment for giant CAAs with restrictive cardiac dysfunction.
| S-EPMC6612139 | biostudies-literature
Project description:Bullous pemphigoid (BP) is a rare, life-threatening autoimmune blistering disease with pruritus and tension blisters/bullous as the main clinical manifestations. Glucocorticosteroids are the main therapeutic agents for it, but their efficacy is poor in some patients. Tofacitinib, a small molecule agent that inhibits JAK1/3, has shown incredible efficacy in a wide range of autoimmune diseases and maybe a new valuable treatment option for refractory BP. To report a case of refractory BP successfully treated with tofacitinib, then explore the underlying mechanism behind the treatment, and finally review similarities to other cases reported in the literature. Case report and literature review of published cases of successful BP treatment with JAK inhibitors. The case report describes a 73-year-old male with refractory BP that was successfully managed with the combination therapy of tofacitinib and low-dose glucocorticoids for 28 weeks. Immunohistochemistry and RNA sequencing were performed to analyze the underlying mechanism of tofacitinib therapy. A systematic literature search was conducted to identify other cases of treatment with JAK inhibitors. Throughout the 28-week treatment period, the patient experienced clinical, autoantibody and histologic resolution. Immunohistochemical analysis showed tofacitinib significantly decreased the pSTAT3 and pSTAT6 levels in the skin lesions of this patient. RNA sequencing and immunohistochemical testing of lesion samples from other BP patients identified activation of the JAK-STAT signaling pathway. Literature review revealed 17 previously reported cases of BP treated with four kinds of JAK inhibitors successfully, including tofacitinib (10), baricitinib (1), upadacitinib (3) and abrocitinib (3). Our findings support the potential of tofacitinib as a safe and effective treatment option for BP. Larger studies are underway to better understand this efficacy and safety.
2024-11-13 | GSE278926 | GEO
Project description:Coronary artery disease (CAD) is multifactorial and strongly affected by genetic, epigenetic and environmental factors. Several studies have reported development of concomitant CAD in identical twins. We report a case in which a pair of Caucasian male monozygotic twins presented almost concomitantly with acute coronary syndrome (ACS) and had concordant coronary anatomy and identical site of occlusion. We performed a systematic literature review of PubMed, Web Of Science and Scopus databases from inception until 28 February 2023 of case reports/case series reporting the concomitant development of CAD in monozygotic twins. We found 25 eligible case reports with a total of 31 monozygotic twin pairs (including the case from our center) suffering from CAD and presenting (most of them simultaneously) with ACS (mean age of presentation: 45 ± 12 years, males: 81%). Coronary angiograms demonstrated lesion and anatomy concordance in 77% and 79% of the twin pairs, respectively. Screening for disease-related genetic mutations was performed in six twin pairs leading to the identification of five CAD-related genetic polymorphisms. This is the first systematic literature review of studies reporting identical twin pairs suffering from CAD. In summary, there is high concordance of coronary anatomy and clinical presentation between monozygotic twins. Future monozygotic twin studies-unbiased by age effects-can provide insights into CAD heritability being able to disentangle the traditional dyad of genetic and environmental factors and investigate the within-pair epigenetic drift.
| S-EPMC10489011 | biostudies-literature
Project description:A rare case of neonatal congenital coronary artery, right ventricle fistula with giant coronary artery aneurysm formation, was reported. Computed tomography angiography demonstrated the dilated and tortuous tunnel arising from the right aortic sinus and traversing the epicardial surface before opening into the anterolateral aspect of the RV. Successful surgical repair was performed with a patch closure of the fistula and coronary angioplasty. The postoperative recovery was uneventful. Our experience of this rare congenital heart disease demonstrated that early surgical repair of coronary artery fistula and coronary angioplasty in the neonate can be performed safely. Further study is needed to seek the basis on this.
| S-EPMC8241900 | biostudies-literature
Project description:BackgroundTerminal duplication on chromosome 15q is a rare chromosomal variation. Affected individuals show similar features such as growth dysplasia or the development of frontal bossing, body deformities, facial abnormalities, and genitourinary or cardiovascular disorders. However, it is not yet clear whether such 15q repeats lead to identifiable patterns of clinical abnormalities. Therefore, the purpose of this study was to analyze the prenatal diagnostic results and clinical manifestations of a fetus with 15q duplication and to summarize the literature.MethodsThe case was a fetus at 28 weeks of gestation. The risk of Down syndrome from second-trimester screening was 1/140. Prenatal ultrasound and amniocentesis were performed, and chromosomal microarray analysis (CMA) was used for genetic analysis.ResultsThe fetus had abnormal clinical features, including intracardiac echogenic focus in the left ventricle, an aberrant right subclavian artery, and growth delay. The fetal chromosomal karyotype was 46,XX,15q?,12q?,21pstk+, and CMA revealed a 10.163 Mb duplication at 15q24.3-q25.3. The couple chose to terminate the pregnancy after careful consideration.ConclusionsThe combination and rational application of cytogenetics technology and molecular genetics technology such as CMA will open up the field of clinical application and provide useful genetic counseling for parents of fetuses carrying such chromosomal duplications.
| S-EPMC7370735 | biostudies-literature
Project description:BackgroundCoronary artery fistula complicated with giant coronary artery ectasia (CAE) is a rare cardiac malformation, and its surgical indications and treatment strategies still need further discussion.Case summaryIn this case, a 41-year-old man had complained of occasional dizziness for 2 years, but he did not seek medical attention until he started to feel palpitations. A right coronary artery (RCA)-left ventricular (LV) fistula with giant RCA of diffuse ectasia was firstly revealed by transthoracic echocardiography. A widened left ventricle and significantly constricted right atrium and right ventricle were also detected by three-dimensional coronary artery computed tomography. Surgical treatment, including the repair of the RCA-LV fistula, the resection and reconstruction of the dilated RCA and coronary artery bypass grafting (CABG) under hypothermic cardiopulmonary bypass, were performed to correct the malformation. The patient presented a favourable health condition without any discomfort at the 1-year follow-up.DiscussionCAE can be caused by various congenital or acquired factors. Surgical treatment, such as transcatheter embolization excision, surgical ligation or resection for symptomatic patients with CAE three times or larger than the reference diameter, has been reported to have satisfactory results. Additionally, CABG can be selected if myocardial perfusion is compromised and the distal branch is of reasonable size. In this case, the giant ectasia of the RCA may have been a consequence of the congenital RCA-LV fistula. Atherosclerosis, with calcified plaques in the RCA, and the patient's long-term history of smoking may have contributed to the development of giant ectasia of the RCA.
| S-EPMC7811206 | biostudies-literature