Cardiac Manifestations of Acute Neurologic Lesions

ObjectiveRegular cardiac surveillance is advocated for patients with primary mitochondrial DNA disease. However, there is limited information to guide clinical practice in mitochondrial conditions caused by nuclear DNA defects. We sought to determine the frequency and spectrum of cardiac abnormalities identified in adult mitochondrial disease originated from the nuclear genome.MethodsAdult patients with a genetically confirmed mitochondrial disease were identified and followed up at the national clinical service for mitochondrial disease in Newcastle upon Tyne, UK (January 2009 to December 2018). Case notes, molecular genetics reports, laboratory data and cardiac investigations, including serial electrocardiograms and echocardiograms, were reviewed.ResultsIn this cohort-based observational study, we included 146 adult patients (92 women) (mean age 53.6±18.7 years, 95% CI 50.6 to 56.7) with a mean follow-up duration of 7.9±5.1 years (95% CI 7.0 to 8.8). Eleven different nuclear genotypes were identified: TWNK, POLG, RRM2B, OPA1, GFER, YARS2, TYMP, ETFDH, SDHA, TRIT1 and AGK. Cardiac abnormalities were detected in 14 patients (9.6%). Seven of these patients (4.8%) had early-onset cardiac manifestations: hypertrophic cardiomyopathy required cardiac transplantation (AGK; n=2/2), left ventricular (LV) hypertrophy and bifascicular heart block (GFER; n=2/3) and mild LV dysfunction (GFER; n=1/3, YARS2; n=1/2, TWNK; n=1/41). The remaining seven patients had acquired heart disease most likely related to conventional cardiovascular risk factors and presented later in life (14.6±12.8 vs 55.1±8.9 years, p<0.0001).ConclusionsOur findings demonstrate that the risk of cardiac involvement is genotype specific, suggesting that routine cardiac screening is not indicated for most adult patients with nuclear gene-related mitochondrial disease.

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Cardiac Manifestations in a Group of Romanian Patients with Gaucher Disease Type 1 (a Monocentric Study)

Diagnostics ◽

10.3390/diagnostics11060989 ◽

2021 ◽

Vol 11 (6) ◽

pp. 989

Author(s):

Cecilia Lazea ◽

Simona Bucerzan ◽

Camelia Al-Khzouz ◽

Anca Zimmermann ◽

Ștefan Cristian Vesa ◽

...

Keyword(s):

Gaucher Disease ◽

Cardiac Involvement ◽

Disease Type ◽

Clinical Onset ◽

Lysosomal Disorders ◽

Electrocardiographic Changes ◽

Gaucher Disease Type 1 ◽

And Function ◽

Cardiac Manifestations

Gaucher disease (GD), one of the most common lysosomal disorders, is characterised by clinical heterogeneity. Cardiac involvement is rare and refers to pulmonary hypertension (PH), valvular abnormalities and myocardial infiltrative damage. The aim of this study was to evaluate cardiac involvement in a group of Romanian GD patients. Phenotypic and genotypic characterisation was carried out in 69 patients with GD type 1. Annual echocardiography and electrocardiography were performed to assess pulmonary pressure, morphology and function of the valves and electrocardiographic changes. Nine patients (13%) exhibited baseline echocardiographic signs suggesting PH. Mitral regurgitation was present in 33 patients (48%) and aortic regurgitation in 11 patients (16%). One patient presented aortic stenosis. Significant valvular dysfunction was diagnosed in 10% of patients. PH was associated with greater age (p < 0.001), longer time since splenectomy (p = 0.045) and longer time between clinical onset and the start of enzyme replacing therapy (p < 0.001). Electrocardiographic changes were present in five patients (7%).

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Cardiac Manifestations in Inflammatory Bowel Disease

Angiology ◽

10.1177/0003319721991736 ◽

2021 ◽

pp. 000331972199173

Author(s):

Kadriye Gayretli Yayla ◽

Çağri Yayla

Keyword(s):

Inflammatory Bowel Disease ◽

Bowel Disease ◽

Inflammatory Bowel ◽

Cardiac Manifestations

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Diversity of Cardiac and Gastrointestinal Presentations of Multisystem Inflammatory Syndrome in Children (MIS-C) Associated with COVID-19: A Case Series

Global Pediatric Health ◽

10.1177/2333794x21996613 ◽

2021 ◽

Vol 8 ◽

pp. 2333794X2199661

Author(s):

Anuja R. Shikhare ◽

Rimsha M. Iqbal ◽

Rabail Tariq ◽

Daniel R. Turner ◽

Bassam M. Gebara ◽

...

Keyword(s):

Kawasaki Disease ◽

Gastrointestinal Symptoms ◽

Case Series ◽

Asymptomatic Infection ◽

Cardiac Monitoring ◽

Delayed Presentation ◽

Terminal Ileitis ◽

Serologic Evidence ◽

Cardiac Manifestations ◽

Inflammatory Syndrome

COVID-19 is generally a benign or asymptomatic infection in children, but can occasionally be severe or fatal. Delayed presentation of COVID-19 with hyperinflammation and multi-organ involvement was recently recognized, designated the Multisystem Inflammatory Syndrome in Children (MIS-C). Six children with MIS-C with molecular and serologic evidence of SARS-CoV-2 infection were admitted to our hospital between May 5, 2020 and June 25, 2020. All had fever and weakness; 4/6 presented with gastrointestinal symptoms. Two children had features of complete Kawasaki disease, 3 had incomplete Kawasaki disease, while 1 had terminal ileitis with delayed onset of circulatory shock. Treatment consisted of intravenous immunoglobulin and aspirin for Kawasaki-like disease. Remdesivir, corticosteroids, and infliximab were used when indicated. Median hospitalization was 7 days. Immediate treatment resulted in rapid clinical improvement. In children presenting with hyperinflammatory syndromes without cardiac manifestations, testing for SARS-CoV-2 RNA and antibodies, with close cardiac monitoring should be pursued due to the manifold presentations of SARS-CoV-2 infection in children.

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DO EXTRA-CARDIAC MANIFESTATIONS PREDICT SEVERITY OF CARDIAC PHENOTYPE IN MARFAN SYNDROME?

Journal of the American College of Cardiology ◽

10.1016/s0735-1097(19)31191-x ◽

2019 ◽

Vol 73 (9) ◽

pp. 583

Author(s):

Luciana Teresa Young ◽

Arvind Hoskoppal ◽

Joyce Johnson ◽

Lauren Andrade ◽

L. LuAnn Minich ◽

...

Keyword(s):

Marfan Syndrome ◽

Cardiac Phenotype ◽

Cardiac Manifestations

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Poisoning severity score, Glasgow coma scale, corrected QT interval in acute organophosphate poisoning

Human & Experimental Toxicology ◽

10.1177/0960327110364640 ◽

2010 ◽

Vol 29 (5) ◽

pp. 419-425 ◽

Cited By ~ 29

Author(s):

Okhan Akdur ◽

Polat Durukan ◽

Seda Ozkan ◽

Levent Avsarogullari ◽

Alper Vardar ◽

...

Keyword(s):

Glasgow Coma Scale ◽

Severity Score ◽

Initial Assessment ◽

Organophosphate Poisoning ◽

Qtc Interval ◽

Coma Scale ◽

Qt Intervals ◽

Grade 3 ◽

Poisoning Severity Score ◽

Cardiac Manifestations

The aim of this study was to investigate effectiveness of the poisoning severity score (PSS), Glasgow coma scale (GCS), and corrected QT (QTc) interval in predicting outcomes in acute organophosphates (OP) poisoning. Over a period of 2 years, 62 patients with OP poisoning were admitted to emergency department (ED) of Erciyes University Medical School Hospital. The age, sex, cause of contact, compound involved, time elapsed between exposure and admission to the ED, duration of hospital stay, and cardiac manifestations at the time of presentation were recorded. GCS and poisoning severity score (PSS) was calculated for each patient. Electrocardiogram (ECG) analysis included the rate, rhythm, ST-T abnormalities, conduction defects, and measurement of PR and QT intervals. Sixty-two patients with OP poisoning presented to our ED from January 2007 to December 2008 from which 54 patients were included in the study. The mean age was 34.1 ± 14.8 years. Of the cases, 53.7% were female. Twenty-six patients had a prolonged QTc interval. Mean PSS of men and women was 1.8 ± 1.0. No statistically significant correlation was found between the PSS and QTc intervals of the cases. A significant correlation was determined between the GCS and PSS of grade 3 and grade 4 cases. GCS is a parameter that helps clinician to identify advanced grade OP poisoning patients in the initial assessment in the ED. However, ECG findings, such as prolonged QTc interval, are not effective in determination of short-term prognosis and show no relationship with PSS.

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