Thyroid arterial embolization in a patient with congenital heart disease and refractory amiodarone-induced thyrotoxicosis

Introduction Amiodarone-induced thyrotoxicosis (AIT) can sometimes lead to life-threatening complications, especially in patients with congenital heart disease (CHD). We report the case of a patient with refractory AIT that was successfully treated with thyroid arterial embolization (TAE). Case report A 34-year-old man with complex cyanotic CHD complicated with heart failure (HF), pulmonary hypertension, and supraventricular tachyarrhythmias, was treated with amiodarone since 2013. In March 2019, he presented worsening of his cardiac condition and symptoms of thyrotoxicosis that were confirmed by laboratory assessment. Thiamazole 30 mg/day and prednisolone 40 mg/day were prescribed, but the patient experienced worsening of his cardiac condition with several hospital admissions in the next 5 months, albeit increasing dosages of thionamide and glucocorticoid and introduction of cholestyramine and lithium. Thyroidectomy was excluded due to the severity of thyrotoxicosis, and plasmapheresis was contraindicated due to the cardiac condition. TAE of the four thyroid arteries was then performed with no immediate complications. Progressive clinical and analytical improvement ensued with gradual reduction and suspension of medication with the patient returning to euthyroid state and his usual cardiac condition previous to the AIT. Conclusion For patients with medication refractoriness and whose condition precludes thyroidectomy, embolization of thyroid arteries may be an effective and safe option. Established facts Amiodarone-induced thyrotoxicosis (AIT) can be refractory to a combination therapy of thionamides and glucocorticoids. Restoration of euthyroidism is of paramount importance in heart failure (HF) patients. Emergency thyroidectomy for AIT unresponsive to medical therapy is recommended in patients with severe underlying cardiac disease or deteriorating cardiac function. Novel insights Thyroid arterial embolization (TAE) appeared as a salvage therapy in this patient. To the best of our knowledge, few case reports in the literature have described the embolization of the four thyroid arteries in AIT context. Endovascular embolization techniques are a valuable therapeutic option and can be considered in cases where standard forms of treatment are ineffective or involve unacceptable risks.

193 Epidemiological trend of amyloidosis and its association with cardiovascular conditions: a single-center report

Aims Despite improved awareness and advances in cardiac imaging, cardiac amyloidosis (CA) is a substantially underdiagnosed disease. ATTRwt amyloidosis may be responsible for as many as 30% of HF with preserved ejection fraction in patients >75 years old. Contemporary estimates of its epidemiology in Italy are poorly provided. The aim of this study is to retrospectively analyse yearly inpatient claims consistent with amyloidosis in a single centre of Veneto region (Azienda Ospedaliera—Università di Padova). Methods Inpatient claims were counted in the series in each year if they had at least 1 principal or secondary International Classification of Diseases, Ninth revision—clinical modification (ICD-9, CM) code for amyloidosis (27730-27739), from January 2009 to February 2021. Primary outcome was to clarify if an increase in claims went hand in hand with novel and wider awareness of the disease. Secondary outcome was to identify major comorbidities determining or accompanying acute conditions leading to hospitalization. Results During the study period, there was a total of 328 claims containing ICD9-CM code for amyloidosis; 139 of them (42%) registered before 2015, 189 (58%) after 2015. Mean number of hospitalizations increased during time, starting from 20 claims per year between 2009 and 2015, to 36.8 from 2015 to 2020 (excluded current year). Considering main discharge diagnosis, 84 (25.6%) was related to cardiological condition, of them 56 (66%) was about acute or acute on chronic heart failure, 9 (10.7%) to arrhythmias, both brady- and tachyarrhythmia, 6 (7.1%) to coronary disease, 4 (4.8%) to aortic stenosis. The other most frequent discharge diagnoses, 36 (10.9%) were due to neurological condition, mostly neurovascular disease, 26 (7.9%) were due to haematological disease, mostly multiple myeloma, 14 (4.2%) were about nephrological condition, mostly related to advanced or pre-dialysis renal disease. Regarding related discharge diagnoses, the most frequent were cardiological conditions, appearing in 205 (62.5%) claims. 128 (62.4%) of them were due to acute or chronic heart failure, 10 (4.1%) to brady-tachyarrhythmias, 9 (4.4%) to ischaemic heart disease, and 6 (2.9%) to aortic valve disease. About other associated conditions reported in ICD9-CM codes used 84 (25.6%) were related to haematological diseases, 68 (20.7%) to neurological disease, 52 (15.8%) to renal disease, 23 (7%) to gastroenterological diagnoses (mostly GI bleeding). Conclusions Over the last years, there have been a substantial increase in amyloidosis diagnosis in our centre. This appears to go hand in hand with an increase in clinicians’ CA awareness, as confirmed by the fact that main discharge diagnosis is related to cardiac condition, and more specifically heart failure. Heart is again the most important comorbidity in patients hospitalized for other conditions, mostly related to nephrological, neurological, haematological affections confirming its role as main prognostic determinant in a complex disease, and the necessity to search for it, find it and quickly cure it.

Swiss cheese interventricular septum presenting with catastrophic stroke: the potential role of ECG-gated CTA

Ventricular septal defect is a common congenital cardiac condition that presents in a variety of morphologies. Less commonly, when an individual patient is found to have multiple ventricular septal defects, the term “Swiss cheese ventricular septal defect” is applied. Although not routinely utilized in clinical practice, Electrocardiogram (ECG)-gated computed tomographic angiography (CTA) has been shown to provide utility in detecting intracardiac shunts, demonstrating promise in preventing acute strokes secondary to a paradoxical embolus from occurring; this is especially important when atypical cardiac septa are suspected. This case seeks to illustrate how usage of ECG-gated CTA can assist in early detection and prevention of adverse outcomes resulting from an atypical presentation of a ventricular septal defect.

Prediction of hERG potassium channel PAS-domain variants trafficking via machine learning

Long QT syndrome (LQTS) is a cardiac condition characterized by a prolonged QT-interval. This prolongation can contribute to fatal arrhythmias despite otherwise normal metrics of cardiac function. Hence, genetic screening of individuals remains a standard for initial identification of individuals susceptible to LQTS. Several genes, including KCNH2 that encodes for the Kv11.1 channel are known to cause LQTS2, however, only a small subset of variants found in the human population are established as pathogenic. Hence, the majority of its missense mutations are known to be benign or are variant of unknown significance (VUS). Here we use molecular dynamics (MD) simulations and machine learning (ML) to determine the propensity for Kv11.1 channel variants to present loss-of-function behavior. Specifically, we use these computational techniques to correlate structural and dynamic changes in an important Kv11.1 subdomain, the PAS-domain (PASD), with the ability of the channel to traffic normally to the plasma membrane. With these techniques, we have identified several molecular features, namely, number of hydrating waters and intra-PASD hydrogen bonds, as moderately predictive of trafficking. Together with bioinformatics data including sequence conservation and folding energies, we are able to predict with reasonable accuracy (≈75%) the ability of VUS to traffic. Additionally, we compared two ML algorithms i.e., Decision trees and Random forest for their robustness, and we report that RF performed moderately better than decision trees. Features derived from MD trajectories particularly help improve the prediction of trafficking deficient variants by both ML techniques.

Facts and Gaps in Exercise Influence on Arrhythmogenic Cardiomyopathy: New Insights From a Meta-Analysis Approach

Arrhythmogenic cardiomyopathy (ACM) is a genetic cardiac condition characterized by fibrofatty myocardial replacement, either at the right ventricle, at the left ventricle, or with biventricular involvement. Ventricular arrhythmias and heart failure represent its main clinical features. Exercise benefits on mental and physical health are worldwide recognized. However, patients with ACM appear to be an exception. A thorough review of the literature was performed in PubMed searching for original papers with the terms “ARVC AND sports/exercise” and “sudden cardiac death AND sports/exercise.” Additional papers were then identified through other sources and incorporated to the list. All of them had to be based on animal models or clinical series. Information was structured in a regular format, although some data were not available in some papers. A total of 34 papers were selected and processed regarding sports-related sudden cardiac death, pre-clinical models of ACM and sport, and clinical series of ACM patients engaged in sports activities. Eligible papers were identified to obtain pooled data in order to build representative figures showing the global incidence of the most important causes of sudden cardiac death in sports and the global estimates of life-threatening arrhythmic events in ACM patients engaged in sports. Tables and figures illustrate their major characteristics. The scarce points of controversy were discussed in the text. Fundamental concepts were summarized in three main issues: sports may accelerate ACM phenotype with either structural and/or arrhythmic features, restriction may soften the progression, and these rules also apply to phenotype-negative mutation carriers. Additionally, remaining gaps in the current knowledge were also highlighted, namely, the applicability of those fundamental concepts to non-classical ACM phenotypes since left dominant ACM or non-plakophillin-2 genotypes were absent or very poorly represented in the available studies. Hopefully, future research endeavors will provide solid evidence about the safest exercise dose for each patient from a personalized medicine perspective, taking into account a big batch of genetic, epigenetic, and epidemiological variables, for instance, in order to assist clinicians to provide a final tailored recommendation.

Yield from family screening in a national adolescent cardiac screening program

Introduction Cascade family screening in patients with confirmed or suspected inherited cardiac disorders is now well established. This may refute or confirm a familial clinical diagnosis and is particularly relevant in young adolescent individuals as it may be too early to manifest a distinct phenotype. Objectives A large cohort of 2708 adolescents aged 14–16 years gave consent to participate in a national cardiac screening program (BEAT-IT). Individuals with suspected inherited cardiac disorders were extensively evaluated. Their relatives were also invited to undergo screening. This study reports the yield of this family cardiac screening program. Methodology Family members of probands with suspected or confirmed inherited cardiac conditions were offered cardiac screening. A standard clinical screening protocol for all first-degree family members included a resting 12-lead ECG and echocardiogram. Those with a channelopathy suspicion also underwent postural ECGs and exercise testing. Screening second-degree relatives was also performed in a cascade fashion when clinically indicated. Relatives with a normal baseline screen were offered surveillance if younger than 25 years or a proband clinical diagnosis. Those with an abnormal ECG and/or echocardiogram were referred for further evaluation. Results 17 probands (63% females) were suspected of harbouring inherited heart disease. Another 2 were diagnosed with a clinical phenotype. The mean age was 15.3±0.58 years. All were Caucasian. 77 family members underwent cardiac screening, with a mean age of 42.5±16.43 at first evaluation. The majority were female (n=44, 57.1%). 12 (15.6%) had an abnormal ECG. 6 (7.8%) had an abnormal echocardiogram, with 2 (2.6%) consistent with cardiomyopathy. 8 (10.4%) were diagnosed with an inherited cardiac condition (n=2 HCM, n=1 DCM, n=5 LQTS). Another 7 (9.1%) are under surveillance because of a pathological ECG in the absence of a clinical phenotype. The highest clinical yield was in the Long QT group (n=5, 55.6%). Family members (n=25) referred because of proband lateral TWI were the second most likely to require clinical follow-up because of a pathological ECG or a clinical diagnosis (n=7, 28.0%). Relatives referred because of isolated anterior TWI on the proband's ECG had the lowest diagnostic yield (n=17, 0%). After excluding families of probands with isolated anterior TWI (n=18), the overall clinical yield increased to 13.6%. Another 11.9% are under surveillance because of a pathological ECG. Conclusion The yield of family screening as part of a national cardiac screening program was 10.4%. This increases to 13.6% when excluding probands with anterior TWI, with 11.9% under surveillance because of a pathological ECG. To our knowledge, this is the first such study of its kind. FUNDunding Acknowledgement Type of funding sources: Public hospital(s). Main funding source(s): Beating Hearts MaltaResearch, Innovation and Development Trust (University of Malta)

To Assess Competency in Interpretation of Cardiac Arrhythmias among Emergency Medical Professionals in Pune, India

Introduction: The annual number of deaths from Cardiovascular Disease (CVD) in India is projected to rise from 2.26 over the past several decades and have ranged from 1.6% to 7.4% in rural populations and from 1% to 13.2% in urban populations. Electrocardiography (ECG) is a non-invasive tool which is extensively used to understand and analyze a patient’s cardiac condition. It provides information about cardiac condition and helps in diagnosing acute coronary syndromes and cardiac arrhythmias. Emergency Medical Professionals (EMP’s) handle numerous cases of medical as well as trauma emergencies daily and are the first responders prior to hospitalization and the only reliable resource to help in revival of the patient. As it is of high priority, to give the upmost necessary care to the patients, being able to interpret and honing the skills to interpret ECG is of utmost importance and necessary. Despite its immense clinical value, there continues to be a lack of a comprehensive ECG interpretation curriculum in medical education programs. The goal should be to encourage the development of organized curriculum in undergraduate and postgraduate medical education programs, and to ensure the acquisition of level-appropriate ECG interpretation skills while maintaining patient safety. Objective: To assess competency in interpretation of cardiac arrhythmias among Emergency Medical Professionals Study Design: Place of Study: Symbiosis Centre for Health Skills (SCHS), Pune India in May 2021. Methodology: The present study was conducted in May 2021, amongst 200 Emergency Medical Professionals (EMPs) employed in various hospitals in the city of Pune, India. American Heart Association (AHA) – Pre-course Self-Assessment questions were utilized for the study to assess ECG interpretation competency among Emergency Medical Professionals. Conclusion: The present study highlights the poor ECG competence amongst EMP’s. and is limited by its small sample size and interpretation of only three kinds of cardiac rhythms. Yet the study offers, insight on the current gaps in competence and offers simple solutions to improve the scenario.

Effects of Altitude on Chronic Obstructive Pulmonary Disease Patients: Risks and Care

Air travel and altitude stays have become increasingly frequent within the overall population but also in patients suffering from chronic obstructive pulmonary disease (COPD), which is the most common respiratory disease worldwide. While altitude is well tolerated by most individuals, COPD patients are exposed to some serious complications, that could be life-threatening. COPD patients present not only a respiratory illness but also frequent comorbidities. Beyond oxygen desaturation, it also affects respiratory mechanics, and those patients are at high risk to decompensate a cardiac condition, pulmonary hypertension, or a sleep disorder. Recently, there has been considerable progress in the management of this disease. Nocturnal oxygen therapy, inhaled medications, corticosteroids, inspiratory muscle training, and pulmonary rehabilitation are practical tools that must be developed in the comprehensive care of those patients so as to enable them to afford altitude stays.

Computer Modeling of the Heart for ECG Interpretation—A Review

Computer modeling of the electrophysiology of the heart has undergone significant progress. A healthy heart can be modeled starting from the ion channels via the spread of a depolarization wave on a realistic geometry of the human heart up to the potentials on the body surface and the ECG. Research is advancing regarding modeling diseases of the heart. This article reviews progress in calculating and analyzing the corresponding electrocardiogram (ECG) from simulated depolarization and repolarization waves. First, we describe modeling of the P-wave, the QRS complex and the T-wave of a healthy heart. Then, both the modeling and the corresponding ECGs of several important diseases and arrhythmias are delineated: ischemia and infarction, ectopic beats and extrasystoles, ventricular tachycardia, bundle branch blocks, atrial tachycardia, flutter and fibrillation, genetic diseases and channelopathies, imbalance of electrolytes and drug-induced changes. Finally, we outline the potential impact of computer modeling on ECG interpretation. Computer modeling can contribute to a better comprehension of the relation between features in the ECG and the underlying cardiac condition and disease. It can pave the way for a quantitative analysis of the ECG and can support the cardiologist in identifying events or non-invasively localizing diseased areas. Finally, it can deliver very large databases of reliably labeled ECGs as training data for machine learning.