scholarly journals The role of ILR monitoring in patients with a family history of SADS, a view from real clinical practice

2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
R Durand ◽  
C Balfe ◽  
D Jain ◽  
E McKearney ◽  
D Ward ◽  
...  
Keyword(s):  
Clinical Practice ◽  
Family History ◽  
Cardiac Disease ◽  
Heart Rhythm ◽  
Disease Clinic ◽  
Management Plans ◽  
History Of ◽  
Inherited Cardiac Conditions ◽  
Management Changes ◽  
Inherited Cardiac Disease

Abstract Background/Introduction Implantable Loop Recorder (ILR) device monitoring is an established method for long term heart rhythm monitoring in patients with inherited cardiac conditions. Many present with a family history of Sudden Arrhythmic Death Syndrome (SADS). The value of ILR findings in the investigation of SADS relatives has not been well documented. Purpose We aimed to evaluate the impact of ILR monitoring on the management plans of patients with a family history of SADS. Methods We performed a retrospective analysis of the ILR reports and electronic patient records of all patients at the inherited cardiac disease clinic with a family history of SADS and an ILR implanted. Patient demographics, ILR implant indication and specific changes to management plans were recorded and analysed using descriptive statistics. Results All 135 patients with ILR monitoring at the inherited cardiac disease clinic were screened and 87 patients (57.6% female, 41.7±14.0 years) with SADS relatives were included in the study. The mean follow up period was 657.9±392.3 days from ILR implant. Indications for ILR implantation included syncope (n=31, 15.7%), presyncope (45, 22.7%), palpitations (44, 22.2%), chest pain (9, 4.5%), short term heart rhythm monitor findings (6, 3.0%), ECG findings (6, 3.0%), asymptomatic indications (10, (5.1%) including patients with more than one relative with SADS, a family history of conduction disease or family history of long QT syndrome), and atypical symptoms (2 (1%) including seizures and sleep paralysis). Some patients had more than one indication for ILR at the time of implant. As a direct result of ILR monitoring, 43 (49.4%) patients had a change to their management plan. 6 specific definitions for management changes were used: Permanent pacemaker implantation (2, 2.3%), subsequent electrophysiology study (3, 3.5%), medication change (7, 8.1%), arrhythmia excluded as a cause for patient symptoms (26, 29.9%), prompted ILR implant in first degree relative (11, 12.6%) and ILR re-implant for further monitoring for premature conduction disease (1, 1.2%). Patients whose indication for ILR implant was palpitations had the highest likelihood for change of management with 27 changes associated with this indication, of which exclusion of arrhythmia as a cause for symptoms (15) was the most frequent outcome. The indications, syncope and presyncope both yield 21 management changes each. Conclusion The use of ILR devices in family relatives of patients with SADS provides information that may directly impact on patient management, with syncope providing the highest yield and reassurance the most common outcome in our cohort. ILR monitoring helped guide a wide range of other management strategies which included changes to medications and the need for further cardiac procedures. This data represented clinical practice in a niche patient cohort who are at risk for inherited cardiac conditions and associated arrhythmias. FUNDunding Acknowledgement Type of funding sources: None. Indication for ILR vs management change Indications for ILR implant

Venous Thromboembolism: Genetics and Thrombophilias

2021 ◽  
Vol 42 (02) ◽  
pp. 271-283
Author(s):  
Manila Gaddh ◽  
Rachel P. Rosovsky
Keyword(s):  
Clinical Practice ◽  
Venous Thromboembolism ◽  
Family History ◽  
Morbidity And Mortality ◽  
Inherited Thrombophilia ◽  
Risks And Benefits ◽  
Hereditary Thrombophilia ◽  
The World ◽  
The Future ◽  
History Of

AbstractVenous thromboembolism (VTE) is a major cause of morbidity and mortality throughout the world. Up to one half of patients who present with VTE will have an underlying thrombophilic defect. This knowledge has led to a widespread practice of testing for such defects in patients who develop VTE. However, identifying a hereditary thrombophilia by itself does not necessarily change outcomes or dictate therapy. Furthermore, family history of VTE by itself can increase an asymptomatic person's VTE risk several-fold, independent of detecting a known inherited thrombophilia. In this article, we will describe the current validated hereditary thrombophilias including their history, prevalence, and association with VTE. With a focus on evaluating both risks and benefits of testing, we will also explore the controversies of why, who, and when to test as well as discuss contemporary societal guidelines. Lastly, we will share how these tests have been integrated into clinical practice and how to best utilize them in the future.

scholarly journals Serial Observations and Mutational Analysis of an Adoptee with Family History of Hypertrophic Cardiomyopathy

2010 ◽  
Vol 2010 ◽  
pp. 1-4
Author(s):  
Bronwyn Harris ◽  
Jean P. Pfotenhauer ◽  
Cheri A. Silverstein ◽  
Larry W. Markham ◽  
Kim Schafer ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Hypertrophic Cardiomyopathy ◽  
Family History ◽  
Mutational Analysis ◽  
Clinical Findings ◽  
Dominant Mode ◽  
Natural Mother ◽  
History Of ◽  
In Cis ◽  
Inherited Cardiac Disease

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disease with an autosomal dominant mode of transmission. Comprehensive genetic screening of several genes frequently found mutated in HCM is recommended for first-degree relatives of HCM patients. Genetic testing provides the means to identify those at risk of developing HCM and to institute measures to prevent sudden cardiac death (SCD). Here, we present an adoptee whose natural mother and maternal relatives were known be afflicted with HCM and SCD. The proband was followed closely from age 6 to 17 years, revealing a natural history of the progression of clinical findings associated with HCM. Genetic testing of the proband and her natural mother, who is affected by HCM, revealed that they were heterozygous for both the R719Q and T1513S variants in the cardiac beta-myosin heavy chain (MYH7) gene. The proband's ominous family history indicates that the combination of the R719Q and T1513S variantsin cismay be a “malignant” variant that imparts a poor prognosis in terms of the disease progression and SCD risk.

scholarly journals Patients with History of Myocardial Infarction and Acute Cerebrovascular Accidentin Clinical Practice: Demographic, Clinical Characteristics, Drug Treatment and Outcomes (Data of Outpatient and Hospital Registry REGION)

2019 ◽  
Vol 15 (5) ◽  
pp. 656-662 ◽  
Author(s):  
E. Yu. Okshina ◽  
M. M. Loukianov ◽  
S. Yu. Martsevich ◽  
S. S. Yakushin ◽  
N. P. Kutishenko ◽  
...  
Keyword(s):  
Myocardial Infarction ◽  
Clinical Practice ◽  
Family History ◽  
Drug Treatment ◽  
Clinical Characteristics ◽  
Beta Blockers ◽  
All Cause Mortality ◽  
History Of ◽  
Hospital Registry

Aim. To assess the demographic and clinical characteristics, drug treatment and outcomes in patients with a history of acute cerebrovascular accident (ACVA) and with concomitant history of myocardial infarction (MI) in clinical practice based on outpatient and hospital parts of REGION registry.Material and methods. The total 1886 patients with a history of ACVA (aged of 70.6±12.5 years, 41.9% men) were enrolled into the outpatient registry REGION (Ryazan) and the hospital registry REGION (Moscow). 356 patients had ACVA and a history of MI (group “ACVA+MI” and 1530 patients had ACVA without history of MI (group “ACVA without MI”). The incidence of cardiovascular diseases (CVD), non-CVD comorbidities, drug therapy and outcomes were analyzed.Results. In the group ACVA+MI compared with group ACVA without MI the significantly higher proportions of patients with the following conditions (diagnosis) were revealed: arterial hypertension (AH) – 99.1% and 94.2%; coronary heart disease (CHD) – 100% and 57%; chronic heart failure (CHF) – 61.5% and 41.8%; atrial fibrillation (AF) – 42.7% and 23.8%; repeated ACVA – 32.9% and 18.9%, respectively, p<0.0001 for all. In ACVA+MI and ACVA without MI groups the respective proportions of patients were smokers – 16.2% and 23.7% (p=0.10), had a family history of premature CVD – 3.2% and 1.2% (p=0.01), and had a hypercholesterolemia – 47% and 59.7% (p<0.001). The incidence of drug administration with proved positive prognostic effect was insufficient in both groups, but higher in the ACVA+MI group compared with ACVA without MI group (on average 47.1% and 40%, respectively), including: anticoagulants in AF – 19.1% and 21.4% (p=0.55); antiplatelets in CHD without AF – 69.4% and 42% (p<0.001); statins in CHD – 26.4% and 17.2% (p<0.001); beta-blockers in CHF – 39% and 23.8% (p=0.002), respectively. During 4- year follow-up in the group ACVA+MI compared with group ACVA without MI there were significantly higher all-cause mortality – 44.9% and 26.8% (p<0.001), nonfatal recurrent ACVA – 13.7% and 5.6% (p=0.0001), and nonfatal MI – 6.9% and 1.0% (p<0.0001), respectively.Conclusion. The proportion of patients with a history of MI was 18.9% among the patients with a history of ACVA. In patients of ACVA+MI group, compared with patients of ACVA without MI group a higher incidence of the following characteristics was revealed: a presence of AH, CHD, CHF, AF, repeated ACVA and a family history of premature CVD. The incidence of taking drug with proved positive effect on prognosis in patients of the compared groups was insufficient, especially of statins and anticoagulants in AF. During the follow-up period ACVA+MI group was characterized by a higher all-cause mortality and higher incidence of nonfatal ACVA and MI. In these patients the improvement of the quality of pharmacotherapy and of the secondary prevention effectiveness are the measures of especial importance. 

scholarly journals Iatrogenic tramadol addiction

2017 ◽  
Vol 69 (1) ◽  
pp. 57 ◽  
Author(s):  
Prabhat Chand ◽  
Naveen Jayaram ◽  
Pratima Murthy
Keyword(s):  
Health Care ◽  
Clinical Practice ◽  
Family History ◽  
Health Care Professionals ◽  
Opioid Analgesic ◽  
Routine Clinical Practice ◽  
Limited Time ◽  
Over The Counter ◽  
Time Period ◽  
History Of

<p>Tramadol, either alone or in combination with paracetamol, is a commonly prescribed opioid analgesic in routine clinical practice. It has reportedly low abuse potential. There are, however, a few reports of tramadol misuse among health care professionals and persons with a family history of addiction. We describe the clinical profile of three women developing addiction to tramadol. In all these cases tramadol was initially prescribed for pain by the physician. Physicians should not only prescribe tramadol cautiously and for a limited time period but also be trained in identifying misuse (self‑use, over the counter procuring, using for mind altering<br />properties) and dependence (craving, withdrawal symptoms etc.).</p>

Ethnicity and inherited cardiac disease

ESC CardioMed ◽  
2018 ◽  
pp. 2905-2908
Author(s):  
Larissa Fabritz
Keyword(s):  
Cardiac Disease ◽  
Social Group ◽  
Cultural Tradition ◽  
Cultural Aspects ◽  
Inherited Cardiac Conditions ◽  
Ethnic Factors ◽  
Inherited Cardiac Disease

The concept of ‘ethnicity’ contains biological ethnic factors, such as common genetic backgrounds, but also shared behaviours and other sociopolitical properties shared within a social group that has a common national or distinctive cultural tradition, religion, language, and so on. Both the biological and the cultural aspects of ethnicity can modify manifestation of inherited cardiac conditions.

A Regional ADHD Center-Based Network Project for the Diagnosis and Treatment of Children and Adolescents With ADHD

2015 ◽  
Vol 22 (12) ◽  
pp. 1173-1184 ◽  
Author(s):  
Maurizio Bonati ◽  
Laura Reale ◽  
Michele Zanetti ◽  
Massimo Cartabia ◽  
Filomena Fortinguerra ◽  
...  
Keyword(s):  
Quality Of Care ◽  
Clinical Practice ◽  
Family History ◽  
Learning Disorders ◽  
Psychoeducational Intervention ◽  
Severity Scale ◽  
History Of ◽  
Psychoeducational Interventions ◽  
Network Project

Objective: We aimed to define the sociodemographic, clinical, and prescription profiles of the participants enrolled in the Italian Lombardy ADHD Register. Method: Data on patients evaluated by the 18 regional ADHD reference centers in the 2012 to 2013 period were analyzed. Results: Seven hundred fifty-three of 1,150 (65%) suspected patients received a diagnosis of ADHD. In 24% of cases, there was a family history of ADHD. Four hundred eighty-three (64%) patients had at least one psychopathological disorder, the more common of which were learning disorders (35%). Eighty-four percent of patients received a prescription for psychoeducational interventions, 2% received only pharmacological treatment, and 14% a combination of both. Compared with patients treated with psychoeducational intervention alone, patients with drug prescriptions more commonly presented values of Clinical Global Impressions - Severity scale (CGI-S) of 5 or higher ( p < .0001). Conclusion: A continuous and systematic monitoring of patterns of care is essential in promoting significant improvements in clinical practice and ensuring an efficient and homogeneous quality of care.

Complete paroxysmal atrioventricular block in a 2-year-old girl

2014 ◽  
Vol 25 (7) ◽  
pp. 1407-1410
Author(s):  
Line M. Holst ◽  
Ulrik Dixen ◽  
Dorthe L. Jeppesen
Keyword(s):  
Family History ◽  
Atrioventricular Block ◽  
Cardiac Disease ◽  
Holter Monitoring ◽  
Sudden Unexpected Death ◽  
Precipitating Factors ◽  
Complete Atrioventricular Block ◽  
Unexpected Death ◽  
History Of ◽  
Complete Atrioventricular

AbstractWe present a case of atypical syncope in a 2-year-old, otherwise healthy girl. The patient presented with three episodes of syncope without any precipitating factors and no family history of sudden unexpected death. Holter monitoring revealed 24 events of complete atrioventricular block lasting up to 6 seconds. A normal 12-lead electrocardiogram does not necessarily exclude cardiac disease, and Holter monitoring is warranted in children with atypical syncope.

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