Browse
Submit Data
Databases
API
Help

Dataset Information

22 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

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

ABSTRACT: Abstract

Background

Anomalous 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 summary

We 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.

Discussion

We 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.

SUBMITTER: Lotman E

PROVIDER: S-EPMC7793133 | biostudies-literature | 2020 Nov

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Similar Datasets

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

Project description:BackgroundAnomalous 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 summaryWe 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.DiscussionOur 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.

| S-EPMC7780492 | 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

Adult renal neuroblastoma: A case report and literature review.

Project description:Adult renal neuroblastoma (NB) is extremely rare, and there have been only a few cases previously described in the literature. We report a case of adult renal NB and summarize the clinical and imaging features of the reported cases.A 41-year-old female was admitted to our hospital with a chief complaint of gross hematuria that had persisted for a month. Nonenhanced computed tomography (CT) revealed a hypodense right renal mass without calcification. Enhanced CT showed an infiltrative, heterogeneously enhancing right renal mass with retrocaval lymphadenopathy and right renal vein thrombus. Magnetic resonance imaging (MRI) revealed that the right renal mass was isointense relative to the renal parenchyma on nonenhanced T1-weighted images; it showed mixed hypointensity and hyperintensity on T2-weighted images, and heterogeneous enhancement with a hyperintense rim on fat-saturated, enhanced T1W images. The initial impression was renal cell carcinoma (RCC).Adult renal neuroblastoma.Right nephroureterectomy with lymph node dissection was performed. The pathology and immunohistochemistry confirmed the diagnosis of renal NB with retrocaval lymphadenopathy and retroperitoneal metastasis.After surgery, the patient received 6 courses of chemotherapy, and no recurrence was observed during a 24-month follow-up period.The clinical picture of adult renal NB is that of a 44-year-old woman, presenting with an abdominal or renal mass about 13cm in size, accompanied by hypertension, hematuria, or pain. In contrast to CT features described in previous literature, no tumor calcification is mentioned in these adult renal NB cases. It is difficult to differentiate renal NB from RCC based on CT or MRI. However, biopsy, urinary catecholamine levels, and metaiodobenzylguanidine (MIBG) scan may aid in presurgical diagnosis.

| S-EPMC5902279 | biostudies-literature

Keratosis lichenoides chronica: A case report and focused overview of the literature.

Project description: Not available

| S-EPMC9291015 | 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

Sudden Cardiac Arrest in an Adult with Anomalous Origin of the Left Coronary Artery from the Pulmonary Artery (ALCAPA): Case Report.

Project description:Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare coronary artery anomaly that carries 90% mortality in the first year of life when left untreated. The diagnosis of ALCAPA is rare in adulthood, and it includes a broad spectrum of clinical manifestations, including sudden cardiac death (SCD). We report a rare case of resuscitated sudden cardiac arrest in a 55-year-old female, who was diagnosed with ALCAPA and underwent successful surgical correction and implantable cardioverter defibrillator (ICD) implantation for secondary prevention. ALCAPA diagnosis is not confined to childhood, and it represents a rare cause of life-threatening arrhythmias and SCD in the adult population. Surgical correction is recommended, regardless of age, presence of symptoms or inducible myocardial ischemia. Multimodality imaging is crucial for diagnosis, management planning and follow up. Assessment of the risk of recurrent ventricular arrhythmias, despite full revascularization, should be performed in all adults with ALCAPA. Myocardial scar detected via late gadolinium enhancement represents a potential irreversible substrate for ventricular arrhythmias, and it provides additional information to evaluate indication of an ICD for secondary prevention.

| S-EPMC8834940 | biostudies-literature

Inguinal ovary in adult women-case report and literature review.

Project description:This paper describes a rare finding of an inguinal ovary in an adult woman who presented with pelvic pain. Inguinal ovary may occur if the gubernaculum fails to attach to the uterus or if the canal of Nuck remains open during fetal development.

| S-EPMC3825092 | 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

Late-Onset N-Acetylglutamate Synthase Deficiency: Report of a Paradigmatic Adult Case Presenting with Headaches and Review of the Literature.

Project description:N-acetylglutamate synthase deficiency (NAGSD) is an extremely rare urea cycle disorder (UCD) with few adult cases so far described. Diagnosis of late-onset presentations is difficult and delayed treatment may increase the risk of severe hyperammonemia. We describe a 52-year-old woman with recurrent headaches who experienced an acute onset of NAGSD. As very few papers focus on headaches in UCDs, we also report a literature review of types and pathophysiologic mechanisms of UCD-related headaches. In our case, headaches had been present since puberty (3-4 days a week) and were often accompanied by nausea, vomiting, or behavioural changes. Despite three previous episodes of altered consciousness, ammonia was measured for the first time at 52 years and levels were increased. Identification of the new homozygous c.344C>T (p.Ala115Val) NAGS variant allowed the definite diagnosis of NAGSD. Bioinformatic analysis suggested that an order/disorder alteration of the mutated form could affect the arginine-binding site, resulting in poor enzyme activation and late-onset presentation. After optimized treatment for NAGSD, ammonia and amino acid levels were constantly normal and prevented other headache bouts. The manuscript underlies that headache may be the presenting symptom of UCDs and provides clues for the rapid diagnosis and treatment of late-onset NAGSD.

| S-EPMC5855567 | 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