Ascending aortic aneurysm and histopathology in Alport syndrome: a case report.

BACKGROUND: Alport syndrome (AS) is caused by mutations in type IV collagen genes that typically target and compromise the integrity of basement membranes in kidney, ocular, and sensorineural cochlear tissues. Type IV and V collagens are also integral components of arterial walls, and whereas collagenopathies including AS are implicated in aortic disease, the incidence of aortic aneurysm in AS is unknown probably because of underreporting. Consequently, AS is not presently considered an independent risk factor for aortic aneurysm and more detailed case studies including histological evidence of basement membrane abnormalities are needed to determine such a possible linkage. CASE PRESENTATION: Here, we present unique histopathological findings of an ascending aortic aneurysm collected at the time of surgery from an AS patient wherein hypertension was the only other known risk factor. CONCLUSIONS: The studies reveal classical histological features of aortic aneurysm, including atheroma, lymphocytic infiltration, elastin disruption, and myxoid degeneration with probable AS association.

Prevalence and impact of pulmonary hypertension on acute decompensated heart failure with preserved ejection fraction hospitalizations: A five-year retrospective analysis.

Heart Failure with Preserved Ejection Fraction (HFpEF) is a major and common cardiovascular condition with widely variable clinical outcomes. Pulmonary hypertension (PH) often co-exists with HFpEF and tends to affect patient outcomes; this study aims to identify the impact of PH on the clinical outcome of patients admitted to the hospital with acute HFpEF exacerbations. We analyzed data from the National Inpatient Sample between 2016 and 2020, focusing on 464,438 acute HFpEF exacerbation hospitalizations. Outcomes were compared between those with PH (27.1 %) and those without PH (72.9 %). HFpEF hospitalizations with PH exhibited elevated in-hospital mortality (adjusted odds ratio [aOR]: 1.20, 95 % confidence interval [95 CI]: 1.08-1.31, P < 0.05), prolonged length of stay (adjusted ß: 0.90 days, P < 0.05), and increased overall costs (adjusted ß: $2,858, P < 0.05). Furthermore, HFpEF hospitalizations with PH demonstrated higher rates of atrial fibrillation, ventricular tachycardia, right ventricular failure, and conduction abnormalities. This population also displayed an increased incidence of acute hypoxic respiratory failure, necessitating increased non-invasive and mechanical ventilation. The co-existence of PH in HFpEF presents an increased risk of mortality and morbidity, with higher healthcare costs and the need for ventilatory support, in addition to higher risks of cardiovascular and pulmonary complications. Therefore, an early diagnosis of PH in patients with HFpEF is crucial, and further research is required to determine appropriate management.

A Murine Model of Hyperlipidemia-Induced Heart Failure with Preserved Ejection Fraction.

The pathophysiology of heart failure with preserved ejection fraction (HFpEF) driven by lipotoxicity is incompletely understood. Given the urgent need for animal models that accurately mimic cardio-metabolic HFpEF, a hyperlipidemia-induced murine model was developed by reverse engineering phenotypes seen in HFpEF patients. This model aimed to investigate HFpEF, focusing on the interplay between lipotoxicity and metabolic syndrome. Hyperlipidemia was induced in wild-type (WT) mice on a 129J strain background through bi-weekly intraperitoneal injections of poloxamer-407 (P-407), a block co-polymer that blocks lipoprotein lipase, combined with a single intravenous injection of adeno-associated virus 9-cardiac troponin T-low-density lipoprotein receptor (AAV9-cTnT-LDLR). Extensive assessments were conducted between 4 and 8 weeks post-treatment, including echocardiography, blood pressure recording, whole-body plethysmography, echocardiography (ECG) telemetry, activity wheel monitoring (AWM), and biochemical and histological analyses. The LDLR/P-407 mice exhibited distinctive features at four weeks, including diastolic dysfunction, preserved ejection fraction, and increased left ventricular wall thickness. Notably, blood pressure and renal function remained within normal ranges. Additionally, ECG and AWM revealed heart blocks and reduced activity, respectively. Diastolic function deteriorated at eight weeks, accompanied by a significant decline in respiratory rates. Further investigation into the double treatment model revealed elevated fibrosis, wet/dry lung ratios, and heart weight/body weight ratios. The LDLR/P-407 mice exhibited xanthelasmas, ascites, and cardiac ischemia. Interestingly, sudden deaths occurred between 6 and 12 weeks post-treatment. The murine HFpEF model offers a valuable and promising experimental resource for elucidating the intricacies of metabolic syndrome contributing to diastolic dysfunction within the context of lipotoxicity-mediated HFpEF.

Unilateral Limb Ischemia in a COVID-19 Patient: A Case Report.

Coronavirus disease 2019 (COVID-19) has been primarily linked to respiratory complications, including acute respiratory distress syndrome (ARDS). However, several systemic manifestations of the disease may also occur. One of the emerging complications that is being increasingly reported in the literature is the hypercoagulable and intense inflammatory state in COVID-19 patients, which leads to venous and/or arterial thrombosis, vasospasm, and ischemia. Despite the recent advances in diagnostic and treatment modalities, the diagnosis and management of vascular ischemia in this patient population remain a challenge, resulting in increased morbidity and mortality. In this case report, we highlight the etiology and potential treatment of limb ischemia in COVID-19 patients.

Late-Onset Fabry Disease Affecting the Kidneys and Liver While Sparing the Heart: A Case Report.

Fabry disease (FD), also known as Anderson-Fabry disease, is an X-linked inherited lysosomal storage disorder caused by the deficiency or reduced activity of alpha-galactosidase A enzyme, which results in the accumulation of globotriaosylceramide (Gb3) in the cells. Atypical (late-onset) FD is characterized by the preserved residual activity of alpha-galactosidase A enzyme resulting in a later presentation in life than classic FD. Patients with late-onset FD are usually present in their third to seventh decades of life with the heart being the most commonly affected organ. FD can also affect the renal and gastrointestinal (GI) systems, however, in the literature, FD limited to the kidneys is scarcely reported and there is no data to suggest disease involvement of the liver. We present a rare case of late-onset FD affecting the kidneys and liver without cardiac or other organ involvement in a patient without having a family history of FD.

Unidentified Object in the Mediastinum: A Case Report of Severe Aortic Calcification in a Patient With Rheumatoid Arthritis.

We present a case of an 80-year-old female with a past medical history of rheumatoid arthritis (RA) who was incidentally found to have severe circumferential thoracic aortic calcification detected on chest X-ray and computed tomography (CT) scan of the chest. This case highlights the chronic inflammatory state and immunological vascular damage as key mechanisms for the accumulation of dystrophic calcification in the blood vessels and soft tissues of patients with autoimmune and inflammatory diseases. It also emphasizes the importance of coordinated multidisciplinary care and management between different specialties including primary care physician (PCP), cardiology, and rheumatology to address all the challenges related to disease control and optimize cardiovascular risk factors in this patient population.