Browse
Submit Data
Databases
API
Help

Dataset Information

20 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Case report of asymptomatic very late presentation of ALCAPA syndrome: review of the literature since pathophysiology until treatment

ABSTRACT: Abstract

Background

Anomalous origin of the left coronary artery (LCA) from the pulmonary artery (ALCAPA) is an unusual congenital heart defect which affects approximately 1 in 300 000 live births and accounts for 0.5% of all congenital heart disease. Without surgical intervention, most patients die in infancy (nearly 90%).

Case summary

We present a rare case of an asymptomatic 67-year-old female. Transthoracic echocardiography demonstrated a dilated right coronary artery (RCA) and multiple collaterals. ALCAPA was confirmed by multidetector computed tomography. The left main artery was seen originating from the pulmonary artery and well-developed collaterals were visualized between the RCA and LCA. No areas of myocardial infarction were identified on cardiac magnetic resonance. Stress studies showed no inducible ischaemia.

Discussion

Our clinical case of an ALCAPA patient who survived and remained asymptomatic to their late 60’s, highlights the importance of well-collateralized and pressurized coronary system to maintain adequate myocardial perfusion. Physicians should be aware of this congenital anomaly as appropriate early diagnosis is crucial to prevent irreversible myocardial damage, acute ischaemia, and arrhythmias, and can improve patient outcomes. Surgical treatment is suggested irrespective of symptomatology or the presence of inducible myocardial ischaemia.

SUBMITTER: Cambronero-Cortinas E

PROVIDER: S-EPMC7780492 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Similar Datasets

Late adult presentation of ALCAPA syndrome: need for a new clinical classification? A case report and literature overview.

Project description:BackgroundAnomalous origin of the left main coronary artery from the pulmonary artery (ALCAPA) is a very uncommon congenital coronary artery anomaly, most commonly presenting in early infancy. Late adult presentation of ALCAPA syndrome is extremely rare.Case summaryWe present a case of a 76-year-old patient with first presentation of ALCAPA. The coronary anomaly was first diagnosed during elective coronary angiography. The case was discussed at the Heart Team meeting and as the patient was asymptomatic, had good coronary collateral circulation, a medical treatment strategy was chosen and the patient was discharged in a good physical condition. During 3 years of follow-up, the patient has experienced no cardiovascular complications.DiscussionWe hereby also discuss briefly the clinical presentation, epidemiology, diagnostics and treatment options for adults with newly diagnosed ALCAPA and discuss the need for a new clinical classification. Only a few cases have been published of septuagenarians or octogenarians with first presentation of ALCAPA. To our knowledge, the patient presented in our case was one of the least symptomatic patients during her eight decades of life.

| S-EPMC7793133 | biostudies-literature

Very late presentation of anomalous origin of the left coronary artery from the pulmonary artery: case report.

Project description:BackgroundAnomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital coronary anomaly. The enlarged right coronary artery provides retrograde collaterals to supply the left ventricle then preferentially directs into the lower pressure pulmonary artery system causing coronary steal phenomenon. Few patients who survive through adulthood without surgery must have abundant, well-formed functioning collaterals with adequate perfusion of the left ventricle. We present the oldest reported patient with ALCAPA to undergo corrective surgery.Case presentationA 79-year-old woman presented with a 3-months history of worsening shortness of breath and orthopnea. Physical examination discovered a soft continuous murmur at the left upper chest. Transthoracic echocardiography demonstrated an unusual, tubular-like structure inside the interventricular septum with a turbulent flow from color Doppler. Moreover, there was a severe mitral regurgitation from posterior mitral leaflet restriction associated with ventricular remodeling in combination with mitral annular dilatation. Coronary angiography and coronary computed tomography angiography established the diagnostic hallmark of ALCAPA syndrome. Stress cardiovascular magnetic resonance perfusion imaging demonstrated no myocardial ischemia suggesting adequate collateral circulation. Remarkably, there was a left coronary ostial stenosis, which served as a protective mechanism against myocardia ischemia by limiting the steal effect. The patient successfully underwent the ligation of anomalous artery at its origin in combination with bioprosthetic mitral valve replacement. Her postoperative course was uneventful.ConclusionsThis case utilized multimodality imaging for delineating the course of abnormal vessels and helping to formulate therapeutic decision.

| S-EPMC6006666 | biostudies-literature

Very late stent expansion with intracoronary lithotripsy: a case report.

Project description:BackgroundUnderexpanded stent in heavily calcified coronary lesion is common and persists over years. It is related to long-term failure and negative outcomes. Treatment of this situation after many years with intracoronary lithotripsy (ICL-Shockwave®) could be an option.Case summaryWe report a case of a man with underexpanded coronary stent implanted 11 years earlier. Optical coherence tomography highlighted the mechanism of stent underexpansion showing the presence of calcium stones under the old struts. Intracoronary lithotripsy crushed calcium under the stent struts causing its geometric change (from elliptical to round shape) and a consequent better transmission of the true radial force of the old stent.DiscussionHeavily calcified coronary lesions lead to stent underexpansion which persists over years. Intracoronary lithotripsy could be a very late option to manage this unfavourable common result.

| S-EPMC7649517 | biostudies-literature

A Rare Entity-Percutaneous Lead Extraction in a Very Late Onset Pacemaker Endocarditis: Case Report and Review of Literature.

Project description:The number of infections related to cardiac implantable electronic devices (CIEDs) has increased as the number of devices implanted around the world has grown exponentially in recent years. CIED complications can sometimes be difficult to diagnose and manage, as in the case of lead-related infective endocarditis. We present the case of a 48-year-old male diagnosed with Staphylococcus aureus device-related infective endocarditis, 12 years after the implant of a single chamber pacemaker. A recent history of the patient includes two urinary catheterizations due to obstructive uropathy in the context of a prostatic adenoma, 2 months previously, both without antibiotic prophylaxis; no other possible entry sites were found and no history of other invasive procedures. After initiation of antibiotic therapy according to antibiotic susceptibility testing, we decided to remove the right ventricular passive fixation lead along with the vegetation and pacemaker generator; because of severe lead adhesions in the costoclavicular region, and especially in the right ventricle, we needed mechanical sheaths to remove the abundant fibrous tissue that encompassed the lead. After a difficult, but successful, lead extraction along with a large vegetation and 6 weeks' antibiotic therapy, the clinical and biological evolution was favorable, without reappearance of symptoms. While very late lead endocarditis is a rarity, late lead-related infective endocarditis (more than 12 months elapsed since implant) is not an exception; this is why we find that endocarditis prophylaxis should be reconsidered in certain patient categories, our patient being proof that procedures with neglectable endocarditis risk according to the guidelines can lead to bacterial endocarditis.

| S-EPMC7827933 | biostudies-literature

Case report: atypical presentation of vancomycin induced DRESS syndrome: a case report and review of the literature.

Project description:BackgroundDrug reaction with eosinophilia and systemic symptoms (DRESS) is a severe hypersensitivity drug reaction involving the skin and multiple internal organ systems. The symptoms typically present with fever and skin rash, and rapidly progress to multiple organ failures. Vancomycin is a rare drug to cause DRESS syndrome with 23 cases reported to date.Case presentationWe described a case of a 39 year-old man who was treated with vancomycin for osteomyelitis of the foot. The patient subsequently developed acute respiratory distress syndrome (ARDS) followed by rash and acute interstitial nephritis. These symptoms were improved by withdrawal of vancomycin and a pulsed corticosteroid regimen. According to the European Registry of Severe Cutaneous Adverse Reaction Criteria (RegiSCAR) (Kardaun et al, British Journal of Dermatology, 169:1071-1080, 2013), the probability of vancomycin induced DRESS syndrome was scored as "Definite". A literature search of vancomycin induced DRESS syndrome was also performed and the overall pulmonary involvement was estimated as 5%. To our knowledge, this was the first case reported with pulmonary involvement as the initial symptom.ConclusionThis is the first case to report pulmonary manifestation as the initial symptom in vancomycin induced DRESS syndrome. Prompt recognition of this entity can expedite proper treatment and hasten recovery.

| S-EPMC5745618 | biostudies-literature

Ewing sarcoma with very late metastasis in the skull: a case report.

Project description:BackgroundEwing sarcoma is a malignant bone tumor; however, its prognosis has improved since the development of modern chemotherapy. Although Ewing sarcoma outcomes have improved, issues related to late complications, secondary malignant neoplasms, and late recurrence or metastasis have emerged.Case presentationWe report a case of Ewing sarcoma that recurred in the occipital bone 21 years after primary tumor treatment. A 45-year-old Japanese woman with a history of Ewing sarcoma 21 years prior, was referred to our hospital due to a severe headache. A tumor was detected in the left occipital bone, and the biopsy revealed Ewing sarcoma. Metastasis was suspected because the patient had been treated for Ewing sarcoma of the left clavicle 21 years prior. There have been several cases of local recurrence or metastasis, occurring 15-20 years after the onset of the initial disease. To our knowledge, very late metastasis of Ewing sarcoma in the skull has not been reported.ConclusionWe report a rare case of very late metastasis of Ewing sarcoma in the skull with a review of the literature. Delayed metastasis secondary to Ewing sarcoma can occur in the lung, which is the most common site for metastasis, as well as other regions of the body, such as the cranium.

| S-EPMC9664645 | biostudies-literature

Treatment and molecular analysis of bullous pemphigoid with tofacitinib: a case report and review of current 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

An unusual presentation of non-infectious ascending aortitis: a case report of an asymptomatic murmur.

Project description:BackgroundAortitis refers to pathologic inflammation of the aortic wall and is broadly categorized into inflammatory (or non-infectious) and infectious aortitis. While rare, isolated non-infectious ascending aortitis (I-NIAA) is a clinical entity that is becoming increasingly recognized but remains poorly understood.Case summaryA 72-year-old man presented with an asymptomatic murmur and was found to have severe aortic insufficiency second to a large ascending aortic aneurysm. He underwent surgical repair and pathology revealed isolated non-infectious ascending aortitis. Following successful surgical repair, he developed joint pains which were successfully treated with glucocorticoids.DiscussionIsolated non-infectious aortitis is a rare entity that warrants further investigation. This case highlights the importance of sending surgical specimens for histopathologic evaluation even when a systemic process is not evident at the time of surgical repair. The development of systemic symptoms following surgical repair in this patient emphasizes the importance of thorough rheumatologic evaluation in patients found to have I-NIAA. Isolated non-infectious ascending aortitis remains poorly understood, and further study is needed to evaluate both its existence as a distinct clinical entity and the role of immunosuppressive therapy.

| S-EPMC8728718 | biostudies-literature

Unusual presentation of primary lung adenocarcinoma mimicking pneumonia: Case report and literature review.

Project description:Primary lung adenocarcinoma, diffuse pneumonic type, can mimic the clinical presentation of an infectious or inflammatory lung disease, which can represent a diagnostic challenge. We present an unusual case of adenocarcinoma of the lung refractory to treatment, associated with rapid deterioration of respiratory status, ARDS requiring intubation and ultimately death.

| S-EPMC6586773 | biostudies-literature

Pseudotumoral Presentation of Cerebral Amyloid-Beta Angiopathy: Case Report and Review of Literature.

Project description:ObjectiveCerebral amyloid angiopathy-related inflammation (CAA-RI) is a rare and potentially treatable encephalopathy that usually affects people older than 50 years old and has an acute or subacute clinical presentation characterized by rapidly evolving cognitive decline, focal deficits and seizures. In a small subset of patients the disease can adopt a pseudotumoral form in the neuroimages that represents a very difficult diagnostic challenge.MethodsHere in we report a patient with a tumour-like presentation of histopathologically confirmed CAA-RI.ResultsWe also conducted a search and reviewed the clinical and radiological features of 41 cases of pseudotumoral CAA-RI previously reported in the literature in order to identify those characteristics that should raise diagnostic suspicions of the disease, there by avoiding unnecessary surgical treatments.ConclusionThe therapy of CAA-RI with steroids is usually effective and clinical and radiological remission can be achieved in the first month in approximately 70% of cases.

| S-EPMC8256143 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data