Aims
Cardiomyopathies are a heterogeneous group of disorders that increase the risk for atrial fibrillation (AF). The aim of the study is to assess the prevalence of AF, anticoagulation management, ...and risk of stroke/transient ischaemic attack (TIA) in patients with cardiomyopathy.
Methods and results
Three thousand two hundred eight consecutive adult patients with cardiomyopathy (34.9% female; median age: 55.0 years) were prospectively enrolled as part of the EURObservational Research Programme Cardiomyopathy/Myocarditis Registry. At baseline, 903 (28.2%) patients had AF (29.4% dilated, 27.5% hypertrophic, 51.5% restrictive, and 14.7% arrhythmogenic right ventricular cardiomyopathy, P < 0.001). AF was associated with more advanced New York Heart Association class (P < 0.001), increased prevalence of cardiovascular risk factors and co‐morbidities, and a history of stroke/TIA (P < 0.001). Oral anticoagulation was administered in 71.7% of patients with AF (vitamin K antagonist: 51.6%; direct oral anticoagulant: 20.1%). At 1 year follow‐up, the incidence of cardiovascular endpoints was as follows: stroke/TIA 1.85% (AF vs. non‐AF: 3.17% vs. 1.19%, P < 0.001), death from any cause 3.43% (AF vs. non‐AF: 5.39% vs. 2.50%, P < 0.001), and death from heart failure 1.67% (AF vs. non‐AF: 2.44% vs. 1.31%, P = 0.033). The independent predictors for stroke/TIA were as follows: AF odds ratio (OR) 2.812, P = 0.005, history of stroke (OR 7.311, P = 0.010), and anaemia (OR 3.119, P = 0.006).
Conclusions
The study reveals a high prevalence and diverse distribution of AF in patients with cardiomyopathies, inadequate anticoagulation regimen, and high risk of stroke/TIA in this population.
Myotonic dystrophy type 1 (DM1) is the most prevalent inherited neuromuscular dystrophy in adults. It is a multisystem disease with cardiac manifestations. Whilst these are well-defined in adults, ...there are scarce published data in the pediatric population. This study aimed to investigate the yield and progression of cardiac disease in pediatric DM1 patients, focusing on congenital DM1 (cDM1).
Methods
A retrospective observational study of all pediatric DM1 patients referred to our center (December 2000-November 2020) was conducted. Patients were classified into DM1 forms according to age of symptom onset and disease severity. Patients underwent clinical and cardiac evaluation with 12-lead ECG, transthoracic echocardiography and 24-h ECG Holter monitoring.
Results
67 DM1 pediatric patients were included: 56 (83.6%) cDM1 and 11 (16.4%) non-cDM1. Median follow-up time of cDM1 patients was 8.0 3.25–11.0 years. 49 (87.5%) cDM1 patients had baseline 12-lead ECG and 44 (78.6%) had a follow-up 12-lead-ECG, with a median follow-up time from diagnosis to baseline ECG of 2.8 1.0–8.5 years and to follow-up ECG of 10.9 5.7–14.2 years. Overall, 43 (87.8%) presented ECG abnormalities, most commonly in the form of asymptomatic conduction disease (
n
= 23, 46.9%), of which 21 (42.9%) had first degree atrioventricular block (1
st
AVB). There was an increase of prevalence from baseline to follow-up ECG in low QRS voltage (16.7%), poor R wave progression (13.9%), abnormal repolarisation (11.9%) and 1
st
AVB (7.6%). one patient (1.8%) underwent pacemaker implantation for syncope in the context of progressive conduction disease. No patients developed left ventricular systolic dysfunction. 4 (7.1%) cDM1 patients died during follow up, including three who died suddenly with no clear cause of death.
Conclusions
This study is the first to analyse the prevalence and progression of ECG abnormalities in cDM1 pediatric patients. The high prevalence of abnormal findings, progressive changes and number of potentially associated events (1 pacemaker implantation and 3 unexplained sudden deaths) stresses the importance of systematic and continued cardiac evaluation of these patients.
In the WHO/ISFC classification of 1996, cardiomyopathies were defined as primary myocardial disorders of unknown cause. Heart muscle disorders of known etiology or associated with systemic disorders ...were classified as secondary or specific heart muscle diseases. An expert panel of the American Heart Association has recently suggested a new scheme that combines genetic and clinical criteria. In this system, the term primary is used to describe cardiac diseases in which the heart is the sole or predominantly involved organ and secondary to describe diseases in which myocardial dysfunction is part of a systemic disorder. In a radical departure from convention, they also suggested that ion channelopathies and disorders of conduction should be considered cardiomyopathies as well. The ESC Working Group on Myocardial and Pericardial Diseases has taken a different approach based on the belief that a clinically oriented classification system in which heart muscle disorders are grouped according to ventricular morphology and function remains the clinically most useful method for diagnosing and managing patients and families with heart muscle disease. In the ESC position statement, cardiomyopathies are defined as myocardial disorders in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. In this article, this is illustrated by examples of dilated cardiomyopathy as familial/genetic forms and nonfamilial/nongenetic forms.
ObjectivesInherited cardiac arrhythmia syndromes are life-threatening conditions. There is a paucity of research examining the psychological impact of these conditions in children. This study had ...three main aims. The first was to explore how the Cardiac Anxiety Questionnaire (CAQ) performs in a child population. The second aim was to compare the level of anxiety of children with an inherited cardiac arrhythmia syndrome and children being screened due to a family history of an inherited cardiac arrhythmia syndrome to control children. The third aim was to examine associations between a sudden cardiac death in the immediate family and levels of anxiety.Method47 children with an inherited cardiac arrhythmia syndrome, 78 children with a family history and 75 control children completed the Revised Child Anxiety and Depression Scale (RCADS), the Cardiac Anxiety Questionnaire for Children (CAQ-C) and the Childhood Anxiety Sensitivity Index. Children were between the age of 8 and 16 years.ResultsThe study found the CAQ-C had promising psychometric properties. There were no significant differences in total anxiety scores (as measured by the RCADS) between the three groups. There were significant differences in cardiac-focused anxiety scores between the three groups.ConclusionsThe CAQ has promising psychometric properties in a child population. However, further research is needed. Children attending specialist inherited cardiac arrhythmia clinics should be targeted for routine psychological screening and offered psychological intervention where necessary.
METHODS Between 1993 and February 2006, 160 consecutively referred patients with HCM (age = or <, slanted16 years) underwent clinical evaluation using 12-lead ECG, two-dimensional, M-mode and Doppler ...echocardiography, Holter monitoring and cardiopulmonary exercise testing using previously described methods. 2 Risk markers for sudden cardiac death (SCD) were: (1) family history of SCD; (2) unexplained syncope; (3) abnormal blood pressure response during upright exercise; (4) non-sustained ventricular tachycardia; and (5) severe left ventricular hypertrophy (= or >, slanted30 mm). In three patients, inappropriate shocks were caused by sinus tachycardia or supraventricular tachycardia; further inappropriate discharges were prevented by using negatively chronotropic drugs (n = 2) or device reprogramming to prevent T-wave sensing (n = 1).
Abstract
Aims
The Cardiomyopathy Registry of the EURObservational Research Programme is a prospective, observational, and multinational registry of consecutive patients with four cardiomyopathy ...subtypes: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy (DCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), and restrictive cardiomyopathy (RCM). We report the baseline characteristics and management of adults enrolled in the registry.
Methods and results
A total of 3208 patients were enrolled by 69 centres in 18 countries HCM (n = 1739); DCM (n = 1260); ARVC (n = 143); and RCM (n = 66). Differences between cardiomyopathy subtypes (P < 0.001) were observed for age at diagnosis, history of familial disease, history of sustained ventricular arrhythmia, use of magnetic resonance imaging or genetic testing, and implantation of defibrillators. When compared with probands, relatives had a lower age at diagnosis (P < 0.001), but a similar rate of symptoms and defibrillators. When compared with the Long-Term phase, patients of the Pilot phase (enrolled in more expert centres) had a more frequent rate of familial disease (P < 0.001), were more frequently diagnosed with a rare underlying disease (P < 0.001), and more frequently implanted with a defibrillator (P = 0.023). Comparing four geographical areas, patients from Southern Europe had a familial disease more frequently (P < 0.001), were more frequently diagnosed in the context of a family screening (P < 0.001), and more frequently diagnosed with a rare underlying disease (P < 0.001).
Conclusion
By providing contemporary observational data on characteristics and management of patients with cardiomyopathies, the registry provides a platform for the evaluation of guideline implementation. Potential gaps with existing recommendations are discussed as well as some suggestions for improvement of health care provision in Europe.
We read with great interest Steven Lipshultz and colleagues' Article (Dec 7, p 1889), which retrospectively analysed prognostic determinants in children with hypertrophic cardiomyopathy. The ...Pediatric Cardiomyopathy Registry, funded by the National Heart, Lung, and Blood Institute of the US National Institutes of Health from 1994, along with the Australian Pediatric Cardiomyopathy Registry, represents the largest source of epidemiological and clinical information for children with cardiomyopathies so far.
Left ventricular outflow tract obstruction (LVOTO) is present in 1/3 of children with Hypertrophic Cardiomyopathy (HCM). Disopyramide improves symptoms associated with LVOTO and delays surgical ...intervention in adults, but it is not licensed in children.
To describe a single-centre thirty-year experience of using disopyramide to treat LVOTO-related symptoms in a paediatric HCM cohort.
Clinical data were collected for all patients meeting diagnostic criteria for HCM (<18 years) at the time of initiation, 6 months after, and last follow-up or end of disopyramide treatment. It included demographics, clinical history, 12‑lead electrocardiography, and echocardiography. Comparisons between baseline and 6 month follow up, and end of follow up respectively were performed.
Fifty-one patients with HCM were started on disopyramide at a mean age 10.2±5.3 years. At 6 months, of those previously symptomatic, 33(86.8%) reported an improvement of symptoms and 12(31.6%) were asymptomatic. PR interval, corrected QT interval and maximal LVOT gradient had not significantly changed, but fewer participants were noted to have systolic anterior motion of the mitral valve 31 (72.1%) vs. 26 (57.80%). Patients were followed up for a median of 1.9 years (IQR 0.83-4.5). Nine patients (17.6%) reported side effects, and eleven patients (33.3%) with initial improvement in symptoms reported a return or worsening of symptoms requiring a change in medication (n = 4, 12.1%) or left ventricular septal myomectomy (n = 7, 21.2%) during follow up.
Disopyramide is a safe and effective treatment for LVOTO-related symptoms in childhood obstructive HCM. Any delay in the need for invasive intervention, particularly during childhood, is of clear clinical benefit.
Danon disease is a rare X-linked autophagic vacuolar cardioskeletal myopathy associated with severe heart failure that can be accompanied with extracardiac neurologic, skeletal, and ophthalmologic ...manifestations. It is caused by loss of function variants in the LAMP2 gene and is among the most severe and penetrant of the genetic cardiomyopathies. Most patients with Danon disease will experience symptomatic heart failure. Male individuals generally present earlier than women and die of either heart failure or arrhythmia or receive a heart transplant by the third decade of life. Herein, the authors review the differential diagnosis of Danon disease, diagnostic criteria, natural history, management recommendations, and recent advances in treatment of this increasingly recognized and extremely morbid cardiomyopathy.
first paragraph of articleThe true prevalence of hypertrophic cardiomyopathy (HCM) in childhood is unknown, but population-based studies have reported an annual incidence between 0.24–0.47 per ...100,000 children. The aetiology of disease is more heterogeneous than that seen in adult populations, with up to 30% of patients having an inborn error of metabolism, malformation syndrome or neuromuscular syndrome. However, as in adults, most cases are caused by mutations in the cardiac sarcomere protein genes, even in young children. The long-term outcome of childhood HCM is highly variable and has been shown to depend partly on the age of presentation and underlying aetiology. Outside of infancy, the most frequent cause of mortality is sudden cardiac death (SCD), and one of the greatest challenges in managing young patients with HCM is identifying those at greatest risk of an arrhythmic event.
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