Project description:Argininosuccinate lyase deficiency (ASLD, MIM #207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life-threatening hyperammonemia, and a late-onset form characterised by polymorphic neuro-cognitive or psychiatric presentation with transient hyperammonemia episodes. Here, we report a late-onset case of ASLD in a 72-year-old man carrying a homozygous pathogenic variant in the exon 16 of the ASL gene, presenting for the first time with fatal hyperammonemic coma. This case report shows the need to systematically carry out an ammonia assay when faced with an unexplained coma.

| S-EPMC8574183 | biostudies-literature

6q21-22 deletion syndrome with interrupted aortic arch.

Project description:Interstitial deletion of 6q21-22 has been previously reported in 11 individuals, who presented with intellectual disability, facial dysmorphism, cardiac abnormality, cerebellar hypoplasia and dysplasia of the corpus callosum. Here, we report the first instance of a patient with 6q21-22 deletion presenting with interrupted aortic arch in addition to the previously described clinical signs. Array analysis using Agilent Human genome CGH 180K identified a 13.3-Mb deletion at 6q21-q22.31 (nt. 109885195-123209593).

| S-EPMC4785536 | biostudies-other

A 40-year-old man with bicuspid aortic valve and huge LV.

Project description: Not available

| S-EPMC4484264 | biostudies-literature

A 70-Year-Old Man With Relapsed CNS Lymphoma Has Incidental Finding of Right Atrial Mass.

Project description:Case presentationA 70-year-old man was admitted to the hospital for planned chemotherapy for recently diagnosed CNS lymphoma. His medical history included follicular lymphoma (achieved remission 1 year prior with chemotherapy) and tonic-clonic seizure 1 month prior to admission, which led to his eventual biopsy-confirmed diagnosis of CNS lymphoma. Physical examination revealed temperature 36.4 °C, heart rate of 60 beats/min, BP of 160/81 mm Hg, and 98% oxygen saturation on room air. Neurologic condition, including mental status examination, was normal. His cardiac examination revealed regular rate and rhythm with normal first and second heart sounds without murmurs, rubs, or gallops. The remainder of the examination was unremarkable. Review of systems noted progressive and intermittent confusion prior to his seizure. He denied any shortness of breath, dyspnea on exertion, orthopnea, lower extremity edema, palpitations, or syncope. Laboratory data were unremarkable.

| S-EPMC9279649 | biostudies-literature

Acute Type A Aortic Dissection Diagnosed by POCUS in a 29-year-old Man.

Project description:Aortic dissection (AD) is a medical emergency with a poor prognosis if not recognized early and treated promptly. In this setting, clinical data may be equivocal, while electrocardiogram, laboratory tests, and chest radiography often show nonspecific findings. In contrast, cardiac point of care ultrasound (POCUS) has proven useful in the diagnosis and detection of complications of AD. We present the case of a 29-year-old man with marfanoid habitus presenting with chest pain and acute heart failure, in whom cardiac POCUS aided in the rapid diagnosis of type A AD and pulmonary edema. POCUS contributed to optimizing the medical treatment and allowed for early activation of the surgical team.

| S-EPMC10700150 | biostudies-literature

Surgical repair of persistent fifth aortic arch coarctation and interrupted fourth aortic arch without cardiopulmonary bypass: a case report.

Project description:Persistent fifth aortic arch (PFAA) is a rare congenital cardiovascular anomaly of the aortic arch, which can occur independently but is frequently associated with other cardiovascular malformations including patent ductus arteriosus (PDA), interrupted aortic arch (IAA), pulmonary atresia, tetralogy of Fallot, and transposition of the great vessels. PFAA can be classified into three different types according to different abnormal vascular connections (type A, B and C). We report an infant diagnosed with PFAA along with interrupted fourth aortic arch (type B) and PDA. Several surgical methods have been delivered to patients diagnosed with PFAA. In our case, the correction of coarctation PFAA and the ligation of PDA were performed without cardiopulmonary bypass through left lateral thoracotomy. We removed the coarctation part of the PFAA, and then performed the end-to-end anastomosis between the fifth aortic arch and the descending aorta. Despite the stenosis at the site of anastomosis was observed 10 months after the operation, the patient resulted in good recovery by once balloon dilation procedure. Thus, we recommend it is more appropriable to select this procedure in the surgical treatment of PFAA for those patients whose fourth aortic arches were interrupted with fifth aortic arches well developed. Our experience can provide a beneficial reference for future cases.

| S-EPMC8905098 | biostudies-literature

A case report: stent implantation to treat coarctation of persistent 5th aortic arch associated with interrupted 4th aortic arch.

Project description:Persistent 5th aortic arch is a rare cardiac anomaly that is usually surgically corrected during infancy or early childhood if it is associated with coarctation of the aorta. Here, we report an adult with coarctation of the 5th aortic arch who was successfully treated by stent implantation. An asymptomatic 32-year-old woman presented with hypertension and a significant arm-leg difference in pressure. On suspicion of coarctation of the aorta, a chest computed tomography was performed, leading to a diagnosis of an interrupted 4th aortic arch with coarctation of a persistent 5th aortic arch. Percutaneous catheter intervention using a PALMAZ large stent dilated to 12 mm resulted in a minimal peak-to-peak pressure gradient. The patient was discharged home after a 2-day monitoring without hypertension and arm-leg blood pressure difference. She remained normotensive with a patent aortic arch on echocardiography performed 10 months after treatment. As for simple coarctation of the aorta, stent implantation was feasible and effective in an adult patient with coarctation of the 5th aortic arch.

| S-EPMC6601166 | biostudies-literature

Intravascular ultrasound guided transcatheter electrosurgical revascularization of an interrupted aortic arch.

Project description:Interrupted aortic arch is a rare (prevalence 1:100000) but malignant cause of secondary hypertension, with late sequela of early myocardial infarction, stroke, and heart failure. We present the case of a 49-year-old male patient with aortic interruption successfully treated by intravascular ultrasound guided transcatheter electrosurgical wire crossing and revascularization using a covered stent.Learning objectiveTranscatheter electrosurgical wire techniques utilizing intravascular ultrasound facilitate safe and effective percutaneous revascularization of complex aortic coarctation patients.

| S-EPMC9214865 | biostudies-literature

Delayed diagnosis of COVID-19 in a 34-year-old man with atypical presentation.

Project description: Not available

| S-EPMC7234792 | biostudies-literature