Cluster analysis and visualisation of electronic health records data to identify undiagnosed patients with rare genetic diseases.

Rare genetic diseases affect 5-8% of the population but are often undiagnosed or misdiagnosed. Electronic health records (EHR) contain large amounts of data, which provide opportunities for analysing and mining. Data mining, in the form of cluster analysis and visualisation, was performed on a database containing deidentified health records of 1.28 million patients across 3 major hospitals in Singapore, in a bid to improve the diagnostic process for patients who are living with an undiagnosed rare disease, specifically focusing on Fabry Disease and Familial Hypercholesterolaemia (FH). On a baseline of 4 patients, we identified 2 additional patients with potential diagnosis of Fabry disease, suggesting a potential 50% increase in diagnosis. Similarly, we identified > 12,000 individuals who fulfil the clinical and laboratory criteria for FH but had not been diagnosed previously. This proof-of-concept study showed that it is possible to perform mining on EHR data albeit with some challenges and limitations.

Myocarditis Following COVID-19 Vaccination: A Systematic Review (October 2020-October 2021).

INTRODUCTION: Reports of SARS-CoV-2 coronavirus (COVID-19) vaccine-related myocarditis, particularly after mRNA vaccines, have raised concerns amongst the general public. This review examined the literature regarding myocarditis post COVID-19 vaccination, drawing from vaccine safety surveillance databases and case reports. METHODS: Combinations of search terms were used in PubMed and COVID-19-specific repositories - LitCovid and the Cochrane COVID-19 Study Register - between 1 October 2020 and 31 October 2021. Manual searches of GoogleScholar and screening of article bibliographies were also performed. RESULTS: Information was obtained from five vaccine safety surveillance databases. Fifty-two (52) case reports totalling 200 cases of possible COVID-19 vaccine-related myocarditis were summarised. Vaccine surveillance databases differed in reporting formats and vaccination rates; however, gross estimates suggested low overall incidence rates of 2-5 per million mRNA vaccines. The incidence appeared to be higher in younger male populations, with onset of symptoms within a few days, usually after the second dose. Some with prior COVID-19 infections had onset after the first dose. Cases with prior unrelated myocarditis were also noted. Almost all presented with chest pain (98.0%). Troponin elevation was universally described and cardiac magnetic resonance imaging was commonly reported based on the updated Lake Louise criteria. Clinical course was mild in the majority, with response to anti-inflammatory treatment. CONCLUSION: COVID-19 vaccine-related myocarditis is an important but rare adverse event. More research is needed into its pathogenesis and reasons for its predominance in young males, while gaps in data exist in those aged <16 years, as well as those with prior COVID-19 infections and prior myocarditis.

The role of multimodality imaging in diagnosing acute perimyocarditis secondary to Crohn's disease.

BACKGROUND: Acute perimyocarditis is a rare extra-intestinal manifestation in Crohn's disease which required multimodality imaging to confirm the diagnosis. Here we present a case of acute perimyocarditis as the first presentation of Crohn's disease. To date, this is the first case presentation reporting the use of 18F-FDG PET/CT Scan for diagnosing such condition. CASE PRESENTATION: A 25-year-old male presented to our hospital with severe persistent pleuritic sharp left-sided chest pain. This was his second hospital admission in the past 4 months for chest pain and diarrhea. At the first hospitalization, he was diagnosed with viral perimyocarditis and irritable bowel syndrome. Laboratory findings, electrocardiogram, and cardiac magnetic resonance imaging results confirm the diagnostic of perimyocarditis. Virology, bacteriology, parasitology, and autoimmune evaluations were unremarkable. Colonoscopy, colorectal biopsy, and 18FGD PET findings confirmed manifestation of perimyocarditis, Crohn's disease, and negative for sarcoidosis. CONCLUSIONS: Looking at the overall clinical picture and investigation results of colonoscopy, colorectal biopsy findings, as well as multi-modality imaging with echocardiography, 18FDG PET-scan and CMRI, the patient was diagnosed to have perimyocarditis attending Chron's disease flare up as a rare extra-intestinal manifestation.

Sleep Apnea Evolution and Left Ventricular Recovery After Percutaneous Coronary Intervention for Myocardial Infarction.

STUDY OBJECTIVES: Sleep apnea is often newly diagnosed in patients presenting with ST-segment elevation myocardial infarction (STEMI). We assessed longitudinal changes in apnea-hypopnea index (AHI) and sleep apnea phenotype after STEMI and determined its association with changes in the left ventricular ejection fraction (LVEF). METHODS: A total of 101 eligible patients with STEMI underwent consecutive sleep studies and echocardiographic studies within 5 days of admission and at 6-month follow-up. Sleep apnea (AHI ≥ 15 events/h) was further divided into obstructive sleep apnea (OSA) or central sleep apnea (CSA). RESULTS: Both AHI (mean difference -6.4 events/h, 95% confidence interval [CI] -9.6 to 3.3, P < .001) and LVEF (mean difference 2.6%, 95% CI 1.3 to 4.0, P < .001) improved from baseline to 6 months. The improvement in AHI was associated with an increase in LVEF (ß = -.47, 95% CI -.86 to -.07, P = .023) and a decrease in left ventricular end-systolic volume (LVESV) (ß = .25, 95% CI .07 to .43, P = .007). Of the patients with OSA at baseline (46%), resolution of OSA was seen in 48% at 6 months. Of those with CSA at baseline (12%), conversion to OSA was seen in 83%. In contrast, among those with no sleep apnea (42%) at baseline, the diagnosis remained the same in 93% at 6 months. CONCLUSIONS: Concurrent changes in AHI, LVEF, and LVESV were seen after STEMI. Sleep studies performed on admission are reliable in excluding sleep apnea. However, patients with OSA or CSA on admission warrant re-evaluation due to evolution of the sleep apnea phenotype.

'Balanced ischaemia' on ECG in dual territory STEMI.

Culprit lesion identification in ST elevation myocardial infarction (STEMI) is often guided by electrocardiogram (ECG) changes. However, in the setting of multi-vessel coronary artery occlusion, this can be challenging. We describe an interesting case of dual territory STEMI with unanticipated ECG changes that bring forth the concept of 'balanced ischaemia'. These seemingly bizarre findings are well explained using the fundamentals of electrocardiography reinstating its relevance in modern day cardiology.

Watch-PAT versus level III device in diagnosing sleep disordered breathing in first myocardial infarction.

BACKGROUND: Watch-PAT 200, a novel portable sleep device worn on the wrist, has been validated against polysomnography. Although sleep disordered breathing (SDB) screening is recommended in patients with cardiovascular disease, no study has reported a comparison of results from Watch-PAT 200 and level III portable devices. METHODS: Patients (n = 140) admitted with a first ST-segment elevation myocardial infarction (STEMI) participated in a hospital-based sleep study using the Watch-PAT 200 and a level III portable device (Embletta Gold) simultaneously within five days of admission. SDB was defined as an apnea-hypopnea index (AHI) of >15 events/h. RESULTS: The left ventricular ejection fraction was normal (≥50%), impaired (30%-49%) and poor (<30%) in 66 (47.1%), 71 (50.7%), and three (2.2%) patients, respectively. Among 116 patients with a successful paired sleep study, the prevalence of SDB was 53.5% (Watch-PAT 200) and 51.7% (Embletta Gold). The agreement of AHI measured by the two devices was moderately good, with an intra-class correlation value of 0.72 (95% confidence interval, 0.62-0.80; P < .01). Agreement between the two devices in diagnosing at least mild (AHI ≥5), moderate-to-severe (AHI ≥15) and severe (AHI ≥30) SDB was 78% (kappa 0.47; P < .01), 77% (kappa 0.55; P < .01) and 80% (kappa 0.49; P < .01), respectively. At a 15-month follow-up, SDB status based on the two devices was associated with the occurrence of adverse cardiovascular events in 48.3% and 44.8%, respectively (P = .56). CONCLUSION: We found a high prevalence of SDB in patients presenting with a first STEMI. Agreement between two portable sleep devices was moderately good.