Pub Date : 2022-01-01DOI: 10.1177/11795468221133611
Alexander Moore, Max Bell
We wanted to assess if "Explainable AI" in the form of extreme gradient boosting (XGBoost) could outperform traditional logistic regression in predicting myocardial infarction (MI) in a large cohort. Two machine learning methods, XGBoost and logistic regression, were compared in predicting risk of MI. The UK Biobank is a population-based prospective cohort including 502 506 volunteers with active consent, aged 40 to 69 years at recruitment from 2006 to 2010. These subjects were followed until end of 2019 and the primary outcome was myocardial infarction. Both models were trained using 90% of the cohort. The remaining 10% was used as a test set. Both models were equally precise, but the regression model classified more of the healthy class correctly. XGBoost was more accurate in identifying individuals who later suffered a myocardial infarction. Receiver operator characteristic (ROC) scores are class size invariant. In this metric XGBoost outperformed the logistic regression model, with ROC scores of 0.86 (accuracy 0.75 (CI ±0.00379) and 0.77 (accuracy 0.77 (CI ± 0.00369) respectively. Secondly, we demonstrate how SHAPley values can be used to visualize and interpret the predictions made by XGBoost models, both for the cohort test set and for individuals. The XGBoost machine learning model shows very promising results in evaluating risk of MI in a large and diverse population. This model can be used, and visualized, both for individual assessments and in larger cohorts. The predictions made by the XGBoost models, points toward a future where "Explainable AI" may help to bridge the gap between medicine and data science.
{"title":"XGBoost, A Novel Explainable AI Technique, in the Prediction of Myocardial Infarction: A UK Biobank Cohort Study.","authors":"Alexander Moore, Max Bell","doi":"10.1177/11795468221133611","DOIUrl":"https://doi.org/10.1177/11795468221133611","url":null,"abstract":"<p><p>We wanted to assess if \"Explainable AI\" in the form of extreme gradient boosting (XGBoost) could outperform traditional logistic regression in predicting myocardial infarction (MI) in a large cohort. Two machine learning methods, XGBoost and logistic regression, were compared in predicting risk of MI. The UK Biobank is a population-based prospective cohort including 502 506 volunteers with active consent, aged 40 to 69 years at recruitment from 2006 to 2010. These subjects were followed until end of 2019 and the primary outcome was myocardial infarction. Both models were trained using 90% of the cohort. The remaining 10% was used as a test set. Both models were equally precise, but the regression model classified more of the healthy class correctly. XGBoost was more accurate in identifying individuals who later suffered a myocardial infarction. Receiver operator characteristic (ROC) scores are class size invariant. In this metric XGBoost outperformed the logistic regression model, with ROC scores of 0.86 (accuracy 0.75 (CI ±0.00379) and 0.77 (accuracy 0.77 (CI ± 0.00369) respectively. Secondly, we demonstrate how SHAPley values can be used to visualize and interpret the predictions made by XGBoost models, both for the cohort test set and for individuals. The XGBoost machine learning model shows very promising results in evaluating risk of MI in a large and diverse population. This model can be used, and visualized, both for individual assessments and in larger cohorts. The predictions made by the XGBoost models, points toward a future where \"Explainable AI\" may help to bridge the gap between medicine and data science.</p>","PeriodicalId":10419,"journal":{"name":"Clinical Medicine Insights. Cardiology","volume":"16 ","pages":"11795468221133611"},"PeriodicalIF":3.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9647306/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9400278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-12-04eCollection Date: 2021-01-01DOI: 10.1177/11795468211058761
Sakiru O Isa, Olajide Buhari, Muminat Adeniran-Isa, Nischit Baral, Govinda Adhikari, Basel AbdulAzeem, Pramod Savarapu, Oyebimpe Adekolujo, Mustafa Hassan, Adedayo Adeboye
Background: There has been a steady and consistent rise in the use of left ventricular assist devices in the management of patients with advanced heart failure. Hypothyroidism also remains one of the most common endocrine conditions with a significant impact on the development and overall outcomes of heart failure. The authors analyzed the National Inpatient Sample to evaluate the effect of hypothyroidism on the in-hospital outcomes of patients with end-stage heart failure following the placement of left ventricular assist device.
Methods: The national inpatient sample was queried to identify all adult patients who had LVAD placement from 2004 to 2014. They were subsequently divided into those with hypothyroidism and those without hypothyroidism. The primary outcome was in-hospital mortality. Other outcomes were acute kidney injury, length, and cost of hospitalization. Logistic regression models were created to determine the outcomes of interest.
Results: Of 2643 patients in the study, 5.4% had hypothyroidism, and 94.6% did not. The hypothyroid patients were significantly older compared to the non-hypothyroid patients (mean age 58.6 years vs 49.95 years, P-value <.0001). Both groups had similar gender composition. In-hospital mortality was similar across both groups. However, there was a higher incidence of acute kidney injury (AKI) in the hypothyroid group (adjusted odds ratio [aOR 1.83, P-value <.001]). Hypothyroid patients had longer hospital stays (adjusted mean difference [aMD] 5.19, P-value .0001). Hospital charges were also higher in the hypothyroid group.
Conclusion: This study found that LVAD is associated with longer hospital stay in hypothyroid patients with heart failure.
{"title":"Hypothyroidism Is Associated With Longer Hospital Stay Following Implantation Of Left Ventricular Assist Device.","authors":"Sakiru O Isa, Olajide Buhari, Muminat Adeniran-Isa, Nischit Baral, Govinda Adhikari, Basel AbdulAzeem, Pramod Savarapu, Oyebimpe Adekolujo, Mustafa Hassan, Adedayo Adeboye","doi":"10.1177/11795468211058761","DOIUrl":"https://doi.org/10.1177/11795468211058761","url":null,"abstract":"<p><strong>Background: </strong>There has been a steady and consistent rise in the use of left ventricular assist devices in the management of patients with advanced heart failure. Hypothyroidism also remains one of the most common endocrine conditions with a significant impact on the development and overall outcomes of heart failure. The authors analyzed the National Inpatient Sample to evaluate the effect of hypothyroidism on the in-hospital outcomes of patients with end-stage heart failure following the placement of left ventricular assist device.</p><p><strong>Methods: </strong>The national inpatient sample was queried to identify all adult patients who had LVAD placement from 2004 to 2014. They were subsequently divided into those with hypothyroidism and those without hypothyroidism. The primary outcome was in-hospital mortality. Other outcomes were acute kidney injury, length, and cost of hospitalization. Logistic regression models were created to determine the outcomes of interest.</p><p><strong>Results: </strong>Of 2643 patients in the study, 5.4% had hypothyroidism, and 94.6% did not. The hypothyroid patients were significantly older compared to the non-hypothyroid patients (mean age 58.6 years vs 49.95 years, <i>P</i>-value <.0001). Both groups had similar gender composition. In-hospital mortality was similar across both groups. However, there was a higher incidence of acute kidney injury (AKI) in the hypothyroid group (adjusted odds ratio [aOR 1.83, <i>P</i>-value <.001]). Hypothyroid patients had longer hospital stays (adjusted mean difference [aMD] 5.19, <i>P</i>-value .0001). Hospital charges were also higher in the hypothyroid group.</p><p><strong>Conclusion: </strong>This study found that LVAD is associated with longer hospital stay in hypothyroid patients with heart failure.</p>","PeriodicalId":10419,"journal":{"name":"Clinical Medicine Insights. Cardiology","volume":"15 ","pages":"11795468211058761"},"PeriodicalIF":3.0,"publicationDate":"2021-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/63/f7/10.1177_11795468211058761.PMC8646184.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39793528","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-11-24eCollection Date: 2021-01-01DOI: 10.1177/11795468211056634
Mariana Tinoco, Sérgio Leite, Bebiana Faria, Sara Cardoso, Pedro Von Hafe, Geraldo Dias, Filipa Cardoso, Tamara Pereira, Inocência Machado, António Lourenço
A 39-year-old male was admitted in the emergency room with chest pain. He had been given the second dose of Pfizer-BioNTech COVID-19 vaccine 3 days before. The patient denied taking any other medication beyond the usual. He didn't feel sick in the previous days/weeks. Laboratory studies revealed elevated serum levels of troponin and C-reactive protein. An autoantibody screen and a serologic panel to detect common viruses were negative. A cardiac MRI showed myocardial edema/inflammation and confirmed the diagnosis of perimyocarditis which was considered to be a consequence of COVID-19 vaccination. Physicians should be aware of the possibility of cardiovascular complications after COVID-19 vaccination.
{"title":"Perimyocarditis Following COVID-19 Vaccination.","authors":"Mariana Tinoco, Sérgio Leite, Bebiana Faria, Sara Cardoso, Pedro Von Hafe, Geraldo Dias, Filipa Cardoso, Tamara Pereira, Inocência Machado, António Lourenço","doi":"10.1177/11795468211056634","DOIUrl":"10.1177/11795468211056634","url":null,"abstract":"<p><p>A 39-year-old male was admitted in the emergency room with chest pain. He had been given the second dose of Pfizer-BioNTech COVID-19 vaccine 3 days before. The patient denied taking any other medication beyond the usual. He didn't feel sick in the previous days/weeks. Laboratory studies revealed elevated serum levels of troponin and C-reactive protein. An autoantibody screen and a serologic panel to detect common viruses were negative. A cardiac MRI showed myocardial edema/inflammation and confirmed the diagnosis of perimyocarditis which was considered to be a consequence of COVID-19 vaccination. Physicians should be aware of the possibility of cardiovascular complications after COVID-19 vaccination.</p>","PeriodicalId":10419,"journal":{"name":"Clinical Medicine Insights. Cardiology","volume":"15 ","pages":"11795468211056634"},"PeriodicalIF":3.0,"publicationDate":"2021-11-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/5d/7d/10.1177_11795468211056634.PMC8637777.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39806375","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-10-27eCollection Date: 2021-01-01DOI: 10.1177/11795468211049449
Shuktika Nandkeolyar, Tanya Doctorian, Gary Fraser, Rachel Ryu, Colleen Fearon, David Tryon, Whitney Kagabo, Dmitry Abramov, Christopher Hauschild, Liset Stoletniy, Anthony Hilliard, Antoine Sakr
Background: Though controversial, the short-duration in-patient use of inotropes in cardiogenic shock (CS) remain an ACC/AHA Class IIa indication, and are frequently used in the initial treatment of CS. We evaluated in-patient mortality and effect on mortality risk of commonly used vasoactive inotropic medications for the medical management of SCAI stage B and C cardiogenic shock patients in a tertiary care cardiac care unit: dobutamine, dopamine, milrinone, and norepinephrine.
Methods: We retrospectively evaluated 342 patients who received dobutamine, milrinone, dopamine, norepinephrine or a combination of these medications for SCAI stage B and C cardiogenic shock. Cox proportional hazards were used to form longitudinal mortality predictions.
Results: Overall in-patient mortality was 18%. Each 1 µg/kg/minute increase in dobutamine independently corresponded to a 15% increase in risk of mortality. High dose dobutamine >3 µg/kg/minute is associated with 3-fold increased risk compared to ⩽3 µg/kg/minute (P < .001). Use of milrinone, norepinephrine, and dopamine were not independently associated with mortality.
Conclusion: We demonstrate that the overall in-hospital mortality of SCAI stage B and C cardiogenic shock patients medically managed on inotropes was not in excess of prior studies. Dobutamine was independently associated with mortality, while other vasoactive inotropic medications were not. Inotropes remain a feasible method of managing SCAI stage B and C cardiogenic shock.
{"title":"Predictors of In-hospital Mortality in Cardiogenic Shock Patients on Vasoactive or Inotropic Support.","authors":"Shuktika Nandkeolyar, Tanya Doctorian, Gary Fraser, Rachel Ryu, Colleen Fearon, David Tryon, Whitney Kagabo, Dmitry Abramov, Christopher Hauschild, Liset Stoletniy, Anthony Hilliard, Antoine Sakr","doi":"10.1177/11795468211049449","DOIUrl":"https://doi.org/10.1177/11795468211049449","url":null,"abstract":"<p><strong>Background: </strong>Though controversial, the short-duration in-patient use of inotropes in cardiogenic shock (CS) remain an ACC/AHA Class IIa indication, and are frequently used in the initial treatment of CS. We evaluated in-patient mortality and effect on mortality risk of commonly used vasoactive inotropic medications for the medical management of SCAI stage B and C cardiogenic shock patients in a tertiary care cardiac care unit: dobutamine, dopamine, milrinone, and norepinephrine.</p><p><strong>Methods: </strong>We retrospectively evaluated 342 patients who received dobutamine, milrinone, dopamine, norepinephrine or a combination of these medications for SCAI stage B and C cardiogenic shock. Cox proportional hazards were used to form longitudinal mortality predictions.</p><p><strong>Results: </strong>Overall in-patient mortality was 18%. Each 1 µg/kg/minute increase in dobutamine independently corresponded to a 15% increase in risk of mortality. High dose dobutamine >3 µg/kg/minute is associated with 3-fold increased risk compared to ⩽3 µg/kg/minute (<i>P</i> < .001). Use of milrinone, norepinephrine, and dopamine were not independently associated with mortality.</p><p><strong>Conclusion: </strong>We demonstrate that the overall in-hospital mortality of SCAI stage B and C cardiogenic shock patients medically managed on inotropes was not in excess of prior studies. Dobutamine was independently associated with mortality, while other vasoactive inotropic medications were not. Inotropes remain a feasible method of managing SCAI stage B and C cardiogenic shock.</p>","PeriodicalId":10419,"journal":{"name":"Clinical Medicine Insights. Cardiology","volume":"15 ","pages":"11795468211049449"},"PeriodicalIF":3.0,"publicationDate":"2021-10-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/7c/35/10.1177_11795468211049449.PMC8554565.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39667045","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-09-29eCollection Date: 2021-01-01DOI: 10.1177/11795468211041330
Domagoj Vučić, Nikola Bijelić, Edi Rođak, Jasmina Rajc, Boris Dumenčić, Tatjana Belovari, Damir Mihić, Kristina Selthofer-Relatić
Visceral adipose tissue is an independent risk factor for the development of atherosclerotic coronary disease, arterial hypertension, diabetes and metabolic syndrome. Right heart morphology often involves the presence of adipose tissue, which can be quantified by non-invasive imaging methods. The last decade brought a wealth of new insights into the function and morphology of adipose tissue, with great emphasis on its role in the pathogenesis of heart disease. Cardiac adipose tissue is involved in thermogenesis, mechanical protection of the heart and energy storage. However, it can also be an endocrine organ that synthesises numerous pro-inflammatory and anti-inflammatory cytokines, the effect of which is accomplished by paracrine and vasocrine mechanisms. Visceral adipose tissue has several compartments that differ in their embryological origin and vascularisation. Deficiency of cardiac adipose tissue, often due to chronic pathological conditions such as oncological diseases or chronic infectious diseases, predicts increased mortality and morbidity. To date, knowledge about the influence of visceral adipose tissue on cardiac morphology is limited, especially the effect on the morphology of the right heart in a state of excess or deficient visceral adipose tissue.
{"title":"Right Heart Morphology and Its Association With Excessive and Deficient Cardiac Visceral Adipose Tissue.","authors":"Domagoj Vučić, Nikola Bijelić, Edi Rođak, Jasmina Rajc, Boris Dumenčić, Tatjana Belovari, Damir Mihić, Kristina Selthofer-Relatić","doi":"10.1177/11795468211041330","DOIUrl":"https://doi.org/10.1177/11795468211041330","url":null,"abstract":"<p><p>Visceral adipose tissue is an independent risk factor for the development of atherosclerotic coronary disease, arterial hypertension, diabetes and metabolic syndrome. Right heart morphology often involves the presence of adipose tissue, which can be quantified by non-invasive imaging methods. The last decade brought a wealth of new insights into the function and morphology of adipose tissue, with great emphasis on its role in the pathogenesis of heart disease. Cardiac adipose tissue is involved in thermogenesis, mechanical protection of the heart and energy storage. However, it can also be an endocrine organ that synthesises numerous pro-inflammatory and anti-inflammatory cytokines, the effect of which is accomplished by paracrine and vasocrine mechanisms. Visceral adipose tissue has several compartments that differ in their embryological origin and vascularisation. Deficiency of cardiac adipose tissue, often due to chronic pathological conditions such as oncological diseases or chronic infectious diseases, predicts increased mortality and morbidity. To date, knowledge about the influence of visceral adipose tissue on cardiac morphology is limited, especially the effect on the morphology of the right heart in a state of excess or deficient visceral adipose tissue.</p>","PeriodicalId":10419,"journal":{"name":"Clinical Medicine Insights. Cardiology","volume":"15 ","pages":"11795468211041330"},"PeriodicalIF":3.0,"publicationDate":"2021-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a4/5a/10.1177_11795468211041330.PMC8485260.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39481392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-07-03eCollection Date: 2021-01-01DOI: 10.1177/11795468211029244
João Adriano Sousa, Maria Isabel Mendonça, Marco Serrão, Sofia Borges, Eva Henriques, Sónia Freitas, Margarida Tentem, Marina Santos, Pedro Freitas, António Ferreira, Graça Guerra, António Drumond, Roberto Palma Reis
Evidence points epicardial adipose tissue (EAT) as an emerging cardiovascular risk marker. Whether genetic polymorphisms linked with atherosclerosis are associated with higher EAT is still unknown. We aim to assess the role of genetic burden of atherosclerosis and its association to EAT in a cohort of asymptomatic individuals without coronary disease. A total of 996 participants were prospectively enrolled in a single Portuguese center. EAT volume was measured by Cardiac Computed Tomography and participants were distributed into 2 groups, above and below median EAT. SNPs were genotyped and linked to their respective pathophysiological axes. A multiplicative genetic risk score (mGRS) was constructed, representing the genetic burden of the studied SNPs. To evaluate the association between genetics and EAT, we compared both groups by global mGRS, mGRS by functional axes, and SNPs individually. Individuals above-median EAT were older, had a higher body mass index (BMI) and higher prevalence of hypertension, metabolic syndrome, diabetes, and dyslipidemia. They presented higher GRS, that remained an independent predictor of higher EAT volumes. The group with more EAT consistently presented higher polymorphic burden across numerous pathways. After adjustment, age, BMI, and mGRS of each functional axis emerged as independently related to higher EAT volumes. Amongst the 33 SNPs, MTHFR677 polymorphism emerged as the only significant and independent predictor of higher EAT volumes. Patients with higher polymorphism burden for atherosclerosis present higher EAT volumes. We present the first study in a Portuguese population, evaluating the genetic profile of EAT through GWAS and GRS, casting further insight into this complicated matter.
{"title":"Epicardial Adipose Tissue: The Genetics Behind an Emerging Cardiovascular Risk Marker.","authors":"João Adriano Sousa, Maria Isabel Mendonça, Marco Serrão, Sofia Borges, Eva Henriques, Sónia Freitas, Margarida Tentem, Marina Santos, Pedro Freitas, António Ferreira, Graça Guerra, António Drumond, Roberto Palma Reis","doi":"10.1177/11795468211029244","DOIUrl":"https://doi.org/10.1177/11795468211029244","url":null,"abstract":"<p><p>Evidence points epicardial adipose tissue (EAT) as an emerging cardiovascular risk marker. Whether genetic polymorphisms linked with atherosclerosis are associated with higher EAT is still unknown. We aim to assess the role of genetic burden of atherosclerosis and its association to EAT in a cohort of asymptomatic individuals without coronary disease. A total of 996 participants were prospectively enrolled in a single Portuguese center. EAT volume was measured by Cardiac Computed Tomography and participants were distributed into 2 groups, above and below median EAT. SNPs were genotyped and linked to their respective pathophysiological axes. A multiplicative genetic risk score (mGRS) was constructed, representing the genetic burden of the studied SNPs. To evaluate the association between genetics and EAT, we compared both groups by global mGRS, mGRS by functional axes, and SNPs individually. Individuals above-median EAT were older, had a higher body mass index (BMI) and higher prevalence of hypertension, metabolic syndrome, diabetes, and dyslipidemia. They presented higher GRS, that remained an independent predictor of higher EAT volumes. The group with more EAT consistently presented higher polymorphic burden across numerous pathways. After adjustment, age, BMI, and mGRS of each functional axis emerged as independently related to higher EAT volumes. Amongst the 33 SNPs, MTHFR677 polymorphism emerged as the only significant and independent predictor of higher EAT volumes. Patients with higher polymorphism burden for atherosclerosis present higher EAT volumes. We present the first study in a Portuguese population, evaluating the genetic profile of EAT through GWAS and GRS, casting further insight into this complicated matter.</p>","PeriodicalId":10419,"journal":{"name":"Clinical Medicine Insights. Cardiology","volume":"15 ","pages":"11795468211029244"},"PeriodicalIF":3.0,"publicationDate":"2021-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/11795468211029244","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39195559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-05-29eCollection Date: 2021-01-01DOI: 10.1177/11795468211015230
Jose Nativi-Nicolau, Nitasha Sarswat, Johana Fajardo, Muriel Finkel, Younos Abdulsattar, Adam Castaño, Lori Klein, Alexandra Haddad-Angulo
Background: Because transthyretin amyloid cardiomyopathy (ATTR-CM) poses unique diagnostic and therapeutic challenges, referral of patients with known or suspected disease to specialized amyloidosis centers is recommended. These centers have developed strategic practices to provide multidisciplinary comprehensive care, but their best practices have not yet been well studied as a group.
Methods: A qualitative survey was conducted by telephone/email from October 2019 to February 2020 among eligible healthcare providers with experience in the management of ATTR-CM at US amyloidosis centers, patients with ATTR-CM treated at amyloidosis centers, and patient advocates from amyloidosis patient support groups.
Results: Fifteen cardiologists and 9 nurse practitioners/nurses from 15 selected amyloidosis centers participated in the survey, with 16 patients and 4 patient advocates. Among participating healthcare providers, the most frequently cited center best practices were diagnostic capability, multidisciplinary care, and time spent on patient care; the greatest challenges involved coordination of patient care. Patients described the "ideal" amyloidosis program as one that provides physicians with expertise in ATTR-CM, sufficient time with patients, comprehensive patient care, and opportunities to participate in research/clinical trials. The majority of centers host patient support group meetings, and patient advocacy groups provide support for centers with physician/patient education and research.
Conclusions: Amyloidosis centers offer comprehensive care based on staff expertise in ATTR-CM, a multidisciplinary approach, advanced diagnostics, and time dedicated to patient care and education. Raising awareness of amyloidosis centers' best practices among healthcare providers can reinforce the benefits of early referral and comprehensive care for patients with ATTR-CM.
{"title":"Best Practices in Specialized Amyloidosis Centers in the United States: A Survey of Cardiologists, Nurses, Patients, and Patient Advocates.","authors":"Jose Nativi-Nicolau, Nitasha Sarswat, Johana Fajardo, Muriel Finkel, Younos Abdulsattar, Adam Castaño, Lori Klein, Alexandra Haddad-Angulo","doi":"10.1177/11795468211015230","DOIUrl":"https://doi.org/10.1177/11795468211015230","url":null,"abstract":"<p><strong>Background: </strong>Because transthyretin amyloid cardiomyopathy (ATTR-CM) poses unique diagnostic and therapeutic challenges, referral of patients with known or suspected disease to specialized amyloidosis centers is recommended. These centers have developed strategic practices to provide multidisciplinary comprehensive care, but their best practices have not yet been well studied as a group.</p><p><strong>Methods: </strong>A qualitative survey was conducted by telephone/email from October 2019 to February 2020 among eligible healthcare providers with experience in the management of ATTR-CM at US amyloidosis centers, patients with ATTR-CM treated at amyloidosis centers, and patient advocates from amyloidosis patient support groups.</p><p><strong>Results: </strong>Fifteen cardiologists and 9 nurse practitioners/nurses from 15 selected amyloidosis centers participated in the survey, with 16 patients and 4 patient advocates. Among participating healthcare providers, the most frequently cited center best practices were diagnostic capability, multidisciplinary care, and time spent on patient care; the greatest challenges involved coordination of patient care. Patients described the \"ideal\" amyloidosis program as one that provides physicians with expertise in ATTR-CM, sufficient time with patients, comprehensive patient care, and opportunities to participate in research/clinical trials. The majority of centers host patient support group meetings, and patient advocacy groups provide support for centers with physician/patient education and research.</p><p><strong>Conclusions: </strong>Amyloidosis centers offer comprehensive care based on staff expertise in ATTR-CM, a multidisciplinary approach, advanced diagnostics, and time dedicated to patient care and education. Raising awareness of amyloidosis centers' best practices among healthcare providers can reinforce the benefits of early referral and comprehensive care for patients with ATTR-CM.</p>","PeriodicalId":10419,"journal":{"name":"Clinical Medicine Insights. Cardiology","volume":"15 ","pages":"11795468211015230"},"PeriodicalIF":3.0,"publicationDate":"2021-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/11795468211015230","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39075978","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2021-05-24eCollection Date: 2021-01-01DOI: 10.1177/11795468211016870
Tatiana Pineda, Ignacio Zarante, Angela Camila Paredes, Juan Pablo Rozo, Martha C Reyes, Olga María Moreno-Niño
Background: Congenital heart disease (CHD) is the most common congenital malformation, it is frequently found as an isolated defect, and the etiology is not completely understood. Although most of the cases have multifactorial causes, they can also be secondary to chromosomal abnormalities, monogenic diseases, microduplications or microdeletions, among others. Copy number variations (CNVs) at 22q11.2 are associated with a variety of symptoms including CHD, thymic aplasia, and developmental and behavioral manifestations. We tested CNVs in the 22q11.2 chromosomal region by MLPA in a cohort of Colombian patients with isolated CHD to establish the frequency of these CNVs in the cohort.
Methods: CNVs analysis of 22q11.2 by MLPA were performed in 32 patients with apparently isolate CHD during the neonatal period. Participants were enrolled from different hospitals in Bogotá, and they underwent a clinical assessment by a cardiologist and a clinical geneticist.
Results: CNVs in the 22q11.2 chromosomal region were found in 7 patients (21.9%). The typical deletion was found in 6 patients (18.75%) and atypical 1.5 Mb duplication was found in 1 patient (3.1%).
Conclusions: CNVs in 22q11.2 is a common finding in patients presenting with isolated congenital cardiac disease, therefore these patients should be tested early despite the absence of other clinical manifestations. MLPA is a very useful molecular method and provides an accurate diagnosis.
{"title":"CNVs in the 22q11.2 Chromosomal Region Should Be an Early Suspect in Infants with Congenital Cardiac Disease.","authors":"Tatiana Pineda, Ignacio Zarante, Angela Camila Paredes, Juan Pablo Rozo, Martha C Reyes, Olga María Moreno-Niño","doi":"10.1177/11795468211016870","DOIUrl":"10.1177/11795468211016870","url":null,"abstract":"<p><strong>Background: </strong>Congenital heart disease (CHD) is the most common congenital malformation, it is frequently found as an isolated defect, and the etiology is not completely understood. Although most of the cases have multifactorial causes, they can also be secondary to chromosomal abnormalities, monogenic diseases, microduplications or microdeletions, among others. Copy number variations (CNVs) at 22q11.2 are associated with a variety of symptoms including CHD, thymic aplasia, and developmental and behavioral manifestations. We tested CNVs in the 22q11.2 chromosomal region by MLPA in a cohort of Colombian patients with isolated CHD to establish the frequency of these CNVs in the cohort.</p><p><strong>Methods: </strong>CNVs analysis of 22q11.2 by MLPA were performed in 32 patients with apparently isolate CHD during the neonatal period. Participants were enrolled from different hospitals in Bogotá, and they underwent a clinical assessment by a cardiologist and a clinical geneticist.</p><p><strong>Results: </strong>CNVs in the 22q11.2 chromosomal region were found in 7 patients (21.9%). The typical deletion was found in 6 patients (18.75%) and atypical 1.5 Mb duplication was found in 1 patient (3.1%).</p><p><strong>Conclusions: </strong>CNVs in 22q11.2 is a common finding in patients presenting with isolated congenital cardiac disease, therefore these patients should be tested early despite the absence of other clinical manifestations. MLPA is a very useful molecular method and provides an accurate diagnosis.</p>","PeriodicalId":10419,"journal":{"name":"Clinical Medicine Insights. Cardiology","volume":"15 ","pages":"11795468211016870"},"PeriodicalIF":3.0,"publicationDate":"2021-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ae/8d/10.1177_11795468211016870.PMC8155773.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39075979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Severe Acute Respiratory Syndrome coronavirus-2 has rapidly spread and emerged as a pandemic. Although evidence on its pathophysiology is growing, there are still issues that should be taken into consideration, including its effects on pre-existing peripheral vascular disease. The aim of this review is to describe the thrombotic and endothelial dysfunctions caused by SARS-CoV-2, assess if cardiovascular comorbidities render an individual susceptible to the infection and determine the course of pre-existing vascular diseases in infected individuals. A search through MEDLINE, PubMed and EMBASE was conducted and more than 260 articles were identified and 97 of them were reviewed; the rest were excluded because they were not related to the aim of this study. Hypertension, cardiovascular disease, diabetes mellitus and cerebrovascular diseases comprised 24.30% ± 16.23%, 13.29% ± 12.88%, 14.82% ± 7.57% and 10.82% ± 11.64% of the cohorts reviewed, respectively. Arterial and venous thrombotic complications rocketed up to 31% in severely infected individuals in some studies. We suggest that hypertension, cardiovascular diseases, diabetes and cerebrovascular diseases may render an individual susceptible to severe COVID-19 infection. Pre-existing vascular diseases are expected to deteriorate with SARS-CoV-2 infection as a consequence of its increased thrombotic burden and the development of endothelial dysfunction. COVID-19 has emerged only a few months ago and it is premature to predict the long-term effects to the vascular system. Its disturbances of the coagulation mechanisms and effects on vascular endothelium will likely provoke a surge of vascular complications in the coming months.
{"title":"SARS-CoV-2 and Pre-existing Vascular Diseases: Guilt by Association?","authors":"Grigorios Voulalas, Janice Tsui, Luciano Candilio, Daryll Baker","doi":"10.1177/11795468211010705","DOIUrl":"10.1177/11795468211010705","url":null,"abstract":"<p><p>Severe Acute Respiratory Syndrome coronavirus-2 has rapidly spread and emerged as a pandemic. Although evidence on its pathophysiology is growing, there are still issues that should be taken into consideration, including its effects on pre-existing peripheral vascular disease. The aim of this review is to describe the thrombotic and endothelial dysfunctions caused by SARS-CoV-2, assess if cardiovascular comorbidities render an individual susceptible to the infection and determine the course of pre-existing vascular diseases in infected individuals. A search through MEDLINE, PubMed and EMBASE was conducted and more than 260 articles were identified and 97 of them were reviewed; the rest were excluded because they were not related to the aim of this study. Hypertension, cardiovascular disease, diabetes mellitus and cerebrovascular diseases comprised 24.30% ± 16.23%, 13.29% ± 12.88%, 14.82% ± 7.57% and 10.82% ± 11.64% of the cohorts reviewed, respectively. Arterial and venous thrombotic complications rocketed up to 31% in severely infected individuals in some studies. We suggest that hypertension, cardiovascular diseases, diabetes and cerebrovascular diseases may render an individual susceptible to severe COVID-19 infection. Pre-existing vascular diseases are expected to deteriorate with SARS-CoV-2 infection as a consequence of its increased thrombotic burden and the development of endothelial dysfunction. COVID-19 has emerged only a few months ago and it is premature to predict the long-term effects to the vascular system. Its disturbances of the coagulation mechanisms and effects on vascular endothelium will likely provoke a surge of vascular complications in the coming months.</p>","PeriodicalId":10419,"journal":{"name":"Clinical Medicine Insights. Cardiology","volume":"15 ","pages":"11795468211010705"},"PeriodicalIF":3.0,"publicationDate":"2021-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/11795468211010705","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38936854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A 3-year-old boy was referred to our hospital for management of Kawasaki disease at 5 days of illness. Echocardiographic examination on admission suggested aneurysmal dilation of the right coronary artery and a possible aorta-left main trunk connection. However, detailed echocardiography at 12 days of illness revealed an abnormal bifurcation of the proximal right coronary artery and no real connection of the aorta-left main trunk, all of which indicated the presence of a single right coronary artery. These diagnoses were confirmed by selective coronary angiography, which was performed later. Considering the difficulties in diagnosing congenital coronary anomalies, which may increase the risk of future fatal events, knowing the disease entity of the congenital coronary arterial anomaly is important for the accurate evaluation of coronary arteries in patients with Kawasaki disease. To the best of our knowledge, this is the first case report of a patient with Kawasaki disease complicated by a single right coronary artery; however, following a search of the literature, we found a brief conference abstract written in Japanese relating to the same clinical condition.
{"title":"Child with Kawasaki Disease Complicated by A Single Right Coronary Artery.","authors":"Ryota Nakagawa, Hirotaka Ishido, Yoichi Iwamoto, Mai Sekine, Taichi Momose, Shoyo Tanikawa, Koichi Moriwaki, Satoshi Masutani","doi":"10.1177/11795468211010700","DOIUrl":"https://doi.org/10.1177/11795468211010700","url":null,"abstract":"<p><p>A 3-year-old boy was referred to our hospital for management of Kawasaki disease at 5 days of illness. Echocardiographic examination on admission suggested aneurysmal dilation of the right coronary artery and a possible aorta-left main trunk connection. However, detailed echocardiography at 12 days of illness revealed an abnormal bifurcation of the proximal right coronary artery and no real connection of the aorta-left main trunk, all of which indicated the presence of a single right coronary artery. These diagnoses were confirmed by selective coronary angiography, which was performed later. Considering the difficulties in diagnosing congenital coronary anomalies, which may increase the risk of future fatal events, knowing the disease entity of the congenital coronary arterial anomaly is important for the accurate evaluation of coronary arteries in patients with Kawasaki disease. To the best of our knowledge, this is the first case report of a patient with Kawasaki disease complicated by a single right coronary artery; however, following a search of the literature, we found a brief conference abstract written in Japanese relating to the same clinical condition.</p>","PeriodicalId":10419,"journal":{"name":"Clinical Medicine Insights. Cardiology","volume":"15 ","pages":"11795468211010700"},"PeriodicalIF":3.0,"publicationDate":"2021-04-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1177/11795468211010700","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38918777","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}