Prenatal diagnosis of coronary artery fistula: a case report and review of literature.
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ABSTRACT:
SUBMITTER: Nagiub M
PROVIDER: S-EPMC4239146 | biostudies-other | 2014 Nov
REPOSITORIES: biostudies-other
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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%).
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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:BackgroundA coronary artery aneurysm (CAA) is an abnormal dilation of a coronary artery segment often accompanied by coronary artery fistula (CAF), leading to communication between a coronary artery and a cardiac chamber or a part of the coronary venous system. Both CAAs and CAFs can present with symptoms and signs of myocardial ischemia and infarction.Case presentationWe describe the case of a 46-year-old woman with non-ST-elevation myocardial infarction (NSTEMI) caused by a "giant" CAA. Various imaging modalities revealed a thrombus-containing aneurysm located at the right-posterior cardiac border, with established arteriovenous communication with the distal part of left circumflex artery (LCx). After initial treatment with dual antiplatelet therapy, a relapse of pain was reported along with a new increase in troponin levels, electrocardiographic abnormalities, reduced left ventricular ejection fraction (LVEF) and thrombus enlargement. Surgical excision of the aneurysm was favored, revealing its true size of 6 cm in diameter. Τhe aneurysm was excised without complications. The patient remained asymptomatic during follow-up.ConclusionsManagement of rare entities such as "giant" CAAs and CAFs can be challenging. Cases such as this can serve as precedents to facilitate treatment plans and develop consistent recommendations, emphasizing the importance of personalized strategies for future patients.
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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:BackgroundInfantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final diagnosis cannot be made until pathology is completed after birth. Here, we present a case of disseminated form IM (DFIM) with a diagnosis established on prenatal genetic grounds.Case presentationA woman at 23 weeks of gestation was referred for ultrasound evaluation of fetal kidney abnormality. Generalized masses in the skin and muscle of the fetus developed at 28 weeks. Prenatal genetic testing identified the pathogenic heterozygous variant c.1681C > T (p.R561C) of the PDGFRB gene inherited from the asymptomatic father. Intrauterine demise occurred at 31 weeks. Autopsy confirmed DFIM with involvement of the heart and kidney. All cases of prenatally detected IM were reviewed, revealing an association of high mortality with DFIM.ConclusionsPrenatal IM diagnosis is difficult. Initial detection is always based on ultrasound. DFIM has high mortality. The germline p.R561C mutation in PDGFRB may cause fetal demise due to severe visceral involvement of IM. Prenatal genetic testing provides a diagnosis before pathological results are available, leading to better counseling and management of pregnancy with a fetus with IM.
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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.
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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.
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