Underdiagnosed Roifman syndrome manifested as non-ischaemic cardiomyopathy: a case report.

Roifman syndrome is a rare congenital disorder characterized by growth retardation, cognitive delay, spondyloepiphyseal dysplasia, immunodeficiency, and retinal dystrophy. However, very rarely, with only one case reported to date, a patient with Roifman syndrome may develop cardiomyopathy in their lifetime. We reported a case with underdiagnosed Roifman syndrome confirmed by whole genome sequencing, manifested as non-ischaemic cardiomyopathy, which has broadened the association between non-ischaemic cardiomyopathy and the genetic disorder Roifman syndrome. We also underscored that cardiomyopathy might be part of the clinical manifestations of Roifman syndrome and the importance of whole genome sequencing for diagnosis, as RNU4ATAC is not targeted by many commercially available exome capture kits.

Curable congestive heart failure in patients with primary aldosteronism: two cases reports.

Primary aldosteronism (PA) is characterized by overproduction of aldosterone which can lead to various target organ damage, including the cardiovascular system. There are rare case reports about PA patients with severe heart failure. We report two male patients who were admitted because of severe cardiac systolic dysfunction induced by primary aldosteronism. Their cardiac function improved significantly after target therapy. Patient A was a 33 year old male with serum aldosterone concentration (PAC) 251.3 pg/ml, renin activity (PRA) 0.04 ng/ml/h, and aldosterone-to-renin ratio (ARR) 627.5. Computed tomography (CT) revealed a tumor in the left adrenal gland, while no dominant secretion function was found in the left side after the adrenal veins sampling (lateralization index 0.99). Bilateral adrenal hyperplasia was diagnosed and spironolactone was prescribed. Left ventricular ejection fraction (LVEF) was improved from 30% to 45% at the 11-month follow-up visit. Patient B was 43 years old male with PAC 185.5 pg/ml, PRA 0.46 ng/ml/h and ARR 403.2; Captopril challenge test was positive and a microadenoma (2.7*3.2*2.8 cm) was revealed on CT. Unilateral aldosterone-producing adenoma was diagnosed. His LVEF was improved from 30% to 51% at 12 months after laparoscopic adrenalectomy. Thus, it is important to screen for PA in patients with heart failure and launch the appropriate treatment for such patients.

Time to switch angiotensin-converting enzyme inhibitors/angiotensin receptor blockers to sacubitril/valsartan in patients with cancer therapy-related cardiac dysfunction.

Advances in cancer therapy have resulted in more cancer therapy-related cardiac dysfunction (CTRCD), which is the main cause of death in older female survivors of breast cancer. Traditionally, guideline-recommended medications for heart failure, such as beta-blockers and angiotensin-converting enzyme inhibitors/angiotensin receptor blockers (ACEIs/ARBs), are commonly used to prevent or attenuate CTRCD. However, sometimes their effectiveness is not satisfactory. Recently, the drug combination of sacubitril plus valsartan has been proven to be more beneficial for heart failure with reduced ejection fraction in the long term compared with an ACEI/ARB alone. However, there is a lack of evidence of the efficacy and safety of this drug combination in CTRCD. We report a case of worsening CTRCD, despite treatment with traditional medications, in which the patient improved after changing perindopril to sacubitril/valsartan. The patient's heart function greatly improved after changing this ACEI to sacubitril/valsartan. Changing an ACEI/ARB to sacubitril/valsartan in patients with worsening chemotherapy-induced heart failure is appropriate. Further studies with a high level of evidence are required to assess the efficacy and safety of sacubitril/valsartan for CTRCD.

Takotsubo Cardiomyopathy Triggered by the Death of Pets (Cats): Two Case Reports.

Takotsubo cardiomyopathy otherwise called stress cardiomyopathy, which results in debilitating of a segment of heart muscles, is a sort of non-ischemic cardiomyopathy, set off by stress. We describe two case reports of takotsubo cardiomyopathy triggered by the significant stressful event being the death of pet cats. The rare nature of the type of stressor and the manifestation is something to be considered by healthcare providers.

A Review of the Risk Factors Associated With Poor Outcomes in Patients With Coronavirus Disease 2019.

The global pandemic of coronavirus disease 2019 (COVID-19) and its rapid spread throughout the globe is of much concern. With little known about the peculiar virus and the changing mortality and morbidity, we attempt to review the risk factors associated with significant outcome.  We conducted a review of the information available in medical journals published on COVID-19 risk factors associated with poor outcomes using PubMed®, Google Scholar, and material published online. The risk factors associated with poor outcome were kept in particular consideration. A total of 96 articles were thoroughly reviewed and analyzed so as to highlight the risk factors and the subsequent disease presentation that were present in patients with COVID-19. With little data available in this regard, emphasis and consideration of risk factors might help health care workers preclude the worst outcome. From the aforementioned search we can conclude that the most prevalent risk factors were reported to be hypertension followed by diabetes. In terms of mortality, age greater than 65 was the most significant risk factor. Among non-survivors, coagulation profile including d-dimers, prothrombin time, and inflammatory markers like erythrocyte sedimentation rate (ESR), C-reactive protein (CRP), and serum ferritin levels were very deranged. Much emphasis and consideration in relation to risk factors must be deliberated by health care workers so as to prevent severe outcomes and mitigate appropriate treatment modalities.