Pathogenic truncating filamin C mutations presenting as acute myocarditis: a case series with insights from cardiac magnetic resonance and histological analysis.

Background: The exact mechanisms underlying the pathogenesis of myocarditis are not always understood, but there is emerging evidence to suggest that genetic factors may play a significant role. Case summary: Herein, we present six cases in which clinical, biochemical, and cardiovascular magnetic resonance data were consistent with myocarditis, and genetic testing subsequently revealed pathogenic filamin C (FLNC) mutations. Three patients presented with ventricular arrhythmias, two with severe biventricular dysfunction, and two suffered sudden cardiac arrest. Three received an implantable cardioverter defibrillator, and one underwent heart transplantation. Cascade testing was useful in identifying other relatives with FLNC mutation. We also present relevant histology results of myocardial specimens showing the presence of lymphocytic infiltration and inflammation, further supporting the potential association between FLNC mutations and a myocarditis phenotype. Discussion: Genetic testing of affected individuals for FLNC mutations and cascade screening in the setting of acute myocarditis may be considered in selected clinical context, such as in acute myocarditis accompanied by severe left ventricular systolic dysfunction, biventricular failure, significant ventricular arrhythmias, or right ventricular involvement.

Cardiac magnetic resonance imaging of pericardial diseases: a comprehensive guide.

Cardiac magnetic resonance (CMR) imaging has been established as a valuable diagnostic tool in the assessment of pericardial diseases by providing information on cardiac anatomy and function, surrounding extra-cardiac structures, pericardial thickening and effusion, characterization of pericardial effusion, and the presence of active pericardial inflammation from the same scan. In addition, CMR imaging has excellent diagnostic accuracy for the non-invasive detection of constrictive physiology evading the need for invasive catheterization in most instances. Growing evidence in the field suggests that pericardial enhancement on CMR is not only diagnostic of pericarditis but also has prognostic value for pericarditis recurrence, although such evidence is derived from small patient cohorts. CMR findings could also be used to guide treatment de-escalation or up-titration in recurrent pericarditis and selecting patients most likely to benefit from novel treatments such as anakinra and rilonacept. This article is an overview of the CMR applications in pericardial syndromes as a primer for reporting physicians. We sought to provide a summary of the clinical protocols used and an interpretation of the major CMR findings in the setting of pericardial diseases. We also discuss points that are less well clear and delineate the strengths and weak points of CMR in pericardial diseases.

Association between sodium-glucose cotransporter-2 inhibitors and incident atrial fibrillation/atrial flutter in heart failure patients with reduced ejection fraction: a meta-analysis of randomized controlled trials.

Atrial fibrillation (AF) and atrial flutter (AFL) are associated with adverse outcomes in patients with heart failure and reduced ejection fraction (HFrEF). We investigated the effects of sodium-glucose cotransporter-2 inhibitors (SGLT2i) on the incidence of AF and/or AFL in HFrEF patients. PubMed and ClinicalTrials.gov were systematically searched until March 2022 for randomized controlled trials (RCTs) that enrolled patients with HFrEF. A total of six RCTs with 9467 patients were included (N = 4731 in the SGLT2i arms; N = 4736 in the placebo arms). Compared to placebo, SGLT2i treatment was associated with a significant reduction in the risk of AF [relative risk (RR) 0.62, 95% confidence interval CI 0.44-0.86; P = 0.005] and AF/AFL (RR 0.64, 95% CI 0.47-0.87; P = 0.004). Subgroup analysis showed that empagliflozin use resulted in a significant reduction in the risk of AF (RR 0.55, 95% CI 0.34-0.89; P = 0.01) and AF/AFL (RR 0.50, 95% CI 0.32-0.77; P = 0.002). By contrast, dapagliflozin use was not associated with a significant reduction in the risk of AF (RR 0.69, 95% CI 0.43-1.11; P = 0.12) or AF/AFL (RR 0.82, 95% CI 0.53-1.27; P = 0.38). Additionally, a "shorter" duration (< 1.5 years) of treatment with SGLT2i remained associated with a reduction in the risk of AF (< 1.5 years; RR 0.58, 95% CI 0.36-0.91; P = 0.02) and AF/AFL (< 1.5 years; RR 0.52, 95% CI 0.34-0.80; P = 0.003). In conclusion, SGLT2i therapy was associated with a significant reduction in the risk of AF and AF/AFL in patients with HFrEF. These results reinforce the value of using SGLT2i in this setting.

Successful percutaneous closure of aortic root-to-right ventricle fistula after transcatheter aortic valve implantation: a valuable option in high-risk surgical patients.

Background: Aortic-to-right ventricle (ARV) fistula is an uncommon complication of transcatheter aortic valve implantation (TAVI). Even though surgical closure is usually the treatment of choice in such communications, percutaneous treatment options are valuable alternatives for these high-risk surgical patients. Case summary: In this article, we present the percutaneous closure of an ARV fistula after TAVI, in a highly symptomatic patient with recurrent episodes of heart failure decompensation with worsening right ventricular function, who failed conservative medical treatment and was deemed inoperable. Successful closure of the fistula with the use of the Amplatzer atrial septal occluder was performed 6 months post-TAVI, under general anaesthesia and transoesophageal echocardiography (TOE). A detailed multi-modality imaging pre-procedural planning was performed utilizing 4D cardiac computed tomography and echocardiography. The patient has remained asymptomatic and in good health 5 months after the ARV fistula closure, with marked improvement in his clinical picture and echocardiographic parameters. Discussion: Aortic-to-right ventricle fistulas with significant shunt post-TAVI could lead to biventricular failure and are associated with increased mortality if left untreated. This case demonstrates that TOE-guided percutaneous closure of a TAVI-related ARV fistula, although technically challenging, is feasible, and can be a valuable option for the treatment of symptomatic high-risk surgical patients.

A pilot study on right ventricular longitudinal strain as a predictor of outcome in COVID-19 patients with evidence of cardiac involvement.

AIMS: The aim of this investigation was to evaluate echocardiographic parameters of cardiac function and in particular right ventricular (RV) function as a predictor of mortality in patients with coronavirus disease-2019 (COVID-19) pneumonia. METHODS AND RESULTS: This prospective observational study included 35 patients admitted to a UK district general hospital with COVID-19 and evidence of cardiac involvement, that is, raised Troponin I levels or clinical evidence of heart failure during the first wave of the COVID-19 pandemic (March-May 2020). All patients underwent echocardiography including speckle tracking for right ventricular longitudinal strain (RVLS) providing image quality was sufficient (30 out of 35 patients). Upon comparison of patients who survived COVID-19 with non-survivors, survivors had significantly smaller RVs (basal RV diameter 38.2 vs 43.5 mm P = .0295) with significantly better RV function (Tricuspid annular plane systolic excursion (TAPSE): 17.5 vs 15.3 mm P = .049; average RVLS: 24.3% vs 15.6%; P = .0018). Tricuspid regurgitation (TR) maximal velocity was higher in survivors (2.75 m/s vs 2.11 m/s; P = .0045) indicating that pressure overload was not the predominant driver of this effect and there was no significant difference in left ventricular (LV) ejection fraction. Kaplan-Meier and log-rank analysis of patients split into groups according to average RVLS above or below 20% revealed significantly increased 30-day mortality in patients with average RVLS under 20% (HR: 3.189; 95% CI: 1.297-12.91; P = .0195). CONCLUSION: This study confirms that RVLS is a potent and independent predictor of outcome in COVID-19 patients with evidence of cardiac involvement.

Mycobacterium avium-intracellulare septic arthritis of the sternoclavicular joint in an immunocompetent host; a three-year follow-up.

A 34 year-old lady was referred for rheumatology review by the orthopaedic team for further investigation of chronic left sternoclavicular joint pain. No preceding event such as trauma, injury or infection had occurred. A rheumatology workup turned out to be negative for an inflammatory arthropathy. After extensive investigations including blood tests, an MRI scan, a CT scan, and a bone scan, and in consultation with the orthopaedic team, the affected joint was biopsied and tested for mycobacterium avium-intracellulare infection. The results came back as positive and the patient was started on anti-mycobacterial treatment. We report the diagnosis, management and 3-year follow-up of this unique case. This highlights an uncommon and often misdiagnosed cause of septic arthritis caused by mycobacterium avium-intracellulare infection. To our knowledge this is the first confirmed sternoclavicular mycobacterium avium-intracellulare infection in an immunocompetent host reported in the literature.

Hypothyroidism conversion to hyperthyroidism: it's never too late.

Primary hypothyroidism is a common endocrine condition, most commonly caused by autoimmune thyroiditis (Hashimoto's disease) while Graves' disease is the most common cause of hyperthyroidism. Hypothyroidism is usually a permanent condition in most patients requiring lifelong levothyroxine treatment. Transformation from Hashimoto's disease to Graves' disease is considered rare but recently been increasingly recognised. We describe a case of a 61-year-old lady who was diagnosed with hypothyroidism approximately three decades ago and treated with levothyroxine replacement therapy. Approximately 27 years after the initial diagnosis of hypothyroidism, she started to become biochemically and clinically hyperthyroid. This was initially managed with gradual reduction in the dose of levothyroxine, followed by complete cessation of the medication, but she remained hyperthyroid, ultimately requiring anti-thyroid treatment with Carbimazole. This case highlights that there should be a high index of suspicion for a possible conversion of hypothyroidism to hyperthyroidism, even many years after the initial diagnosis of hypothyroidism. To our knowledge, this case illustrates the longest reported time interval between the diagnosis of hypothyroidism until the conversion to hyperthyroidism. LEARNING POINTS: Occurrence of Graves' disease after primary hypothyroidism is uncommon but possible.In this case, there was a time-lapse of almost 28 years and therefore this entity may not be as rare as previously thought.Diagnosis requires careful clinical and biochemical assessment. Otherwise, the case can be easily confused for over-replacement of levothyroxine.We suggest measuring both anti-thyroid peroxidase (TPO) antibodies and TSH receptor antibodies (TRAB) in suspected cases.The underlying aetiology for the conversion is not exactly known but probably involves autoimmune switch by an external stimulus in genetically susceptible individuals.

Pneumococcal pulmonary valve endocarditis.

Pulmonary valve endocarditis is an rare type of infective endocarditis (IE). Streptococcus pneumoniae is a pathogen that is uncommonly associated with IE. A 50 year-old man was referred to us to an incidental echocardiographic finding of a pulmonary valve vegetation. He had a recent admission for drainage of a scrotal abscess from which streptococcus pneumoniae was isolated, complicated by hospital acquired pneumonia and pulmonary embolism. Analysis using Polymerase Chain Reaction of the surgically resected mass revealed signs of 16S rDNA consistent with Streptococcus pneumoniae infection. This is the first confirmed case of pneumococcal pulmonary valve IE presenting entirely asymptomatically in the absence of any known risk factors.

Primary Diffuse Leptomeningeal Gliomatosis: Radiological/Pathological Features.

We present the case of a 43-year-old lady who presented with headaches, visual impairment, and seizures, progressing rapidly over the course of a few weeks. Extensive workup excluded an inflammatory or infectious cause. Imaging studies revealed diffuse thickening of the leptomeninges and serial CSF analysis showed raised opening pressures and increased protein levels. A diagnostic biopsy of the lower thoracic dura confirmed the diagnosis of primary diffuse leptomeningeal gliomatosis (PDGL). She was managed supportively for her symptoms and unfortunately she passed away a few weeks later.

Spinal arteriovenous malformation presenting with urinary retention.

We present a case of a young female patient presenting predominantly with recurrent episodes of urinary retention. Extensive urological workup was unremarkable. There were some subtle and long-standing neurological findings which prompted us to investigate further with a spinal magnetic resonance imaging scan. The scan demonstrated a spinal arteriovenous malformation (AVM) beginning from the L4/L5 level to the S1/S2 level. Spinal AVM can be a rare cause of urinary retention, and we would like to highlight the importance of having that in the list of our differential when other more common causes have been excluded, and the patient remains symptomatic.

Correlation between global longitudinal peak systolic strain and coronary artery disease severity as assessed by the angiographically derived SYNTAX score.

BACKGROUND: In this study, we investigate the correlation between reduced global longitudinal peak systolic strain (GLPSS) and the SYNTAX score (SS) in patients undergoing coronary angiography. METHODS: We examined 71 patients undergoing both echocardiogram and coronary angiography within 15 days. All patients had normal global and/or regional wall motion on resting echocardiogram. We calculated GLPSS using two-dimensional speckle-tracking echocardiography. SS was calculated for each group of patients based on the presence and/or the severity of coronary artery disease (CAD): no CAD on angiogram (n=10, control group), low SS (n=36, SS<22) and high SS (n=25, SS≥22). We hypothesised that GLPSS at rest is inversely correlated with the angiographically derived SS. RESULTS: Age, sex and most of the risk factors were equally distributed among the groups. There was a significant inverse correlation between GLPSS and SS values (r(2)=0.3869, P<0.001). This correlation was weaker in the low-SS group (r(2)=0.1332, P<0.05), whereas it was lost in the high-SS group (r(2)=0.0002, P=NS). Receiver operating characteristic curve analysis identified that the optimal cut-off for the detection of high-SS patients was 13.95% (sensitivity=71%, specificity=90%, P<0.001). CONCLUSIONS: The results of our study suggest that GLPSS might be promising for the detection of patients with high SYNTAX score on coronary angiogram. There is an inverse correlation between resting GLPSS and SS as assessed by coronary angiography. In patients with the highest SS, however, the correlation with GLPSS was less significant.

A crossed brain stem syndrome without crossed sensory symptomatology.

Lateral medullary infarction (LMI) or Wallenberg syndrome is a type of brain stem stroke, more specifically, a type of crossed brain stem syndrome. LMI is a well-described entity with several documented typical characteristics including pain and temperature impairment in the ipsilateral to the lesion side of the face and the contralateral side of the trunk and limbs. We present a case of LMI which describes a patient who presented with atypical features of analgesia and thermanaesthesia on the contralateral side of the face and absence of sensory deficit on the ipsilateral side. We attributed this pattern of involvement to a lesion that affects the ventral trigeminothalamic tract and spares the dorsolateral part of the medulla where the spinal trigeminal tract and its nucleus lie. This case report highlights the presence of atypical presentations of LMI that may initially challenge the physician's diagnostic reasoning.