Browse
Submit Data
Databases
API
Help

Dataset Information

50 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

An extremely rare cause of Eisenmenger syndrome.

ABSTRACT: Persistent Truncus Arteriosus (PTA) is an extremely rare defect accounting for under 1% of all congenital heart disease, and over 85% of patients succumb to heart failure in infancy. We report a case of van Praagh type A3 PTA, which represents its rarest variant and accounts for only 8-10% of all patients with PTA. The presence of ductal stenosis in such cases is further exceedingly rare.

SUBMITTER: Phadke MS

PROVIDER: S-EPMC4310993 | biostudies-literature | 2014 Nov-Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

An extremely rare cause of Eisenmenger syndrome.

Phadke Milind S MS Sabnis Girish R GR Patil Devendra V DV Lanjewar Charan P CP Kerkar Prafulla G PG

Indian heart journal 20141105 6

Persistent Truncus Arteriosus (PTA) is an extremely rare defect accounting for under 1% of all congenital heart disease, and over 85% of patients succumb to heart failure in infancy. We report a case of van Praagh type A3 PTA, which represents its rarest variant and accounts for only 8-10% of all patients with PTA. The presence of ductal stenosis in such cases is further exceedingly rare. ...[more]

PMID: 25634421

Similar Datasets

Atrial Septal Defect with Eisenmenger Syndrome: A Rare Presentation.

Project description:Atrial septal defects (ASDs) are common congenital heart defects (CHD). The clinical course in patients without closure of the ASD is associated with significant morbidity and mortality in advanced age. A small percentage of patients may develop pulmonary arterial hypertension (PAH) due to left to right shunting that impacts morbidity and mortality. Advances in prenatal screening and fetal echocardiography have allowed timely interventions. Nonetheless, some patients still may be diagnosed with ASD in adulthood as an incidental finding or presenting with clinical symptoms such as shortness of breath from right heart failure. We report a case of an adult female presenting with shortness of breath due to ASD causing PAH with Eisenmenger physiology.

| S-EPMC7085360 | biostudies-literature

An Extremely Rare Cause of Isolated Congenital Anosmia.

Project description:A 14-year-old adolescent was referred to a regional paediatric outpatient clinic with anosmia by her family doctor in Western Australia. The patient has no recollection of her previous ability to smell, suggesting the possibility of congenital anosmia. She was assessed in the paediatric outpatient clinic. A "noncontrast high-resolution MRI-brain scan with Anosmia-Protocol" was requested as the first-line investigation of choice by the treating paediatrician. The MRI was reported as "absence of olfactory tracts with preserved olfactory bulb volume." We report an extremely rare case of "isolated agenesis of the olfactory tract with intact olfactory bulbs" and discuss the clinical approach in bedside assessment of isolated congenital anosmia (ICA). Congenital anosmia can be a presentation of olfactory bulb aplasia; however, little is known about isolated olfactory tract agenesis and its treatment options. The patient was counselled on the diagnosis and safety advice provided.

| S-EPMC9283015 | biostudies-literature

A rare case of large aortopulmonary window with Eisenmenger syndrome and adult survival.

Project description:Patients with polycythemia have an abnormally elevated hemoglobin, hematocrit, and red cell count. It is important to differentiate primary polycythemia from secondary causes since this can affect patient management and prognosis. We report the case of a young male, suspected to have primary polycythemia who was referred for a cardiology opinion after a bone marrow examination was normal and testing for Janus kinase gene mutation was negative. Presence of central cyanosis and clubbing, clinical evidence of severe pulmonary artery hypertension, and significant hypoxemia on arterial blood gas analysis suggested that the polycythemia was secondary to an intracardiac shunt. Transthoracic and contrast echocardiography revealed a large aortopulmonary window with right-to-left shunting. A 64-slice cardiac computed tomography imaging confirmed the diagnosis. In the developing world, it is not uncommon to encounter such unusual cases; careful attention to basic clinical signs and use of multimodality imaging are helpful in establishing the correct diagnosis. <Learning objective: Clinicians should be aware that it is important to distinguish between primary and secondary polycythemia. Although Eisenmenger syndrome is rare in the West, it is not uncommon to encounter such cases in the developing world. Since such patients are polycythemic, they often undergo unnecessary hematological investigations as happened in our case. Careful attention to basic clinical signs and a systematic approach with multimodality imaging were helpful in establishing the diagnosis.>.

| S-EPMC6279648 | biostudies-literature

Klippel-Trenaunay Syndrome, a Rare Cause of Hematochezia.

Project description:Klippel-Trenaunay syndrome (KTS) is a rare disorder with a wide array of clinical manifestations. It is primarily a disorder of vascular malformations that is classically associated with the development of hemangiomas and venous malformations. Rarely will KTS present with visceral involvement. Venous malformations of the gastrointestinal tract in specific are an exceedingly rare manifestation of KTS. When present, it can result in life-threatening bleeding that is oftentimes difficult to manage. Our case highlights a 53-year-old woman who presented to our clinic with chronic rectal bleeding secondary to KTS.

| S-EPMC6306110 | biostudies-other

Cor triatriatum with supramitral ring: "cor tetratriatum", associated with Raghib syndrome with Eisenmenger syndrome: multimodality imaging approach in this exceedingly rare case report.

Project description:BackgroundCor triatriatum and supramitral ring are congenital anomalies which result in formation of three chambers of atria. To the best of our knowledge, simultaneous presence of both entities in the same patient resulting in the formation of four chambers of atria has not been described in the literature. Here, we report a case of simultaneous presence of cor triatriatum and supramitral ring associated with Raghib syndrome and Eisenmenger syndrome.Case presentationWe report the case of a middle-aged gentleman, who presented to us with features of atrial septal defect with Eisenmenger syndrome. Multimodality imaging confirmed the simultaneous presence of supramital ring and cor triatriatum resulting in "cor tetratriatum" along with Raghib syndrome. Presence of Eisenmenger syndrome compelled us to offer medical therapy for the patient.ConclusionThis is the first case report describing the simultaneous presence of supramitral ring and cor triatriatum resulting in a new entity-"cor tetratriatum".

| S-EPMC8286211 | biostudies-literature

Congenital Intrahepatic Arterioportal Fistula: Extremely Rare Cause of Melena and Chronic Diarrhea in Children.

Project description:Congenital intrahepatic arterioportal fistulas are rare causes of presinusoidal portal hypertension in children. A rare case of arterioportal fistula in an infant is being reported. This report also highlights the need for long-term surveillance in such cases, despite being a benign pathology.

| S-EPMC8074812 | biostudies-literature

An Extremely Rare Presentation of Zimmermann–Laband Syndrome in a Twin.

Project description:Zimmermann–Laband syndrome is a rare condition which manifests as hereditary gingival tissue hypertrophy along with other clinical features. Till date, only few cases have been reported in the literature. This case report focuses on an extremely rare presentation of Zimmermann–Laband syndrome in a twin. There has not been a single case report of Zimmermann–Laband syndrome in twins.

| S-EPMC6327830 | biostudies-other

Morvan syndrome: a rare cause of syndrome of inappropriate antidiuretic hormone secretion.

Project description:The syndrome of inappropriate antidiuretic hormone secretion (SIADH) accounts for an important part of hyponatremia cases. The causes of SIADH can be detected almost always. As a rare disorder, Morvan Syndrome can be defined by the sum of peripheral nerve hyperexcitability, autonomic instability and neuropsychiatric features. Antibodies to voltage-gated potassium channels (Anti - VGKC-Ab) including contactin associated protein-like 2 antibodies (CASPR2-Ab) and leucine-rich glioma inactivated protein 1 antibodies (LGI1-Ab) were previously known for the potential association with this condition. We present a Morvan Syndrome in a patient who presented with various neuropsychiatric symptoms and SIADH.

| S-EPMC5536216 | biostudies-other

NTNG1 mutations are a rare cause of Rett syndrome.

Project description:A translocation that disrupted the netrin G1 gene (NTNG1) was recently reported in a patient with the early seizure variant of Rett syndrome (RTT). The netrin G1 protein (NTNG1) has an important role in the developing central nervous system, particularly in axonal guidance, signalling and NMDA receptor function and was a good candidate gene for RTT. We recruited 115 patients with RTT (females: 25 classic and 84 atypical; 6 males) but no mutation in the MECP2 gene. For those 52 patients with epileptic seizure onset in the first 6 months of life, CDKL5 mutations were also excluded. We aimed to determine whether mutations in NTNG1 accounted for a significant subset of patients with RTT, particularly those with the early onset seizure variant and other atypical presentations. We sequenced the nine coding exons of NTNG1 and identified four sequence variants, none of which were likely to be pathogenic. Mutations in the NTNG1 gene appear to be a rare cause of RTT but NTNG1 function demands further investigation in relation to the central nervous system pathophysiology of the disorder.

| S-EPMC2577736 | biostudies-literature

Bruck syndrome: a rare cause of reduced fetal movements.

Project description: Not available

| S-EPMC8638127 | biostudies-literature