Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies

Adorisio, Rachele; Mencarelli, Erica; Cantarutti, Nicoletta; Calvieri, Camilla; Amato, Liliana; Cicenia, Marianna; Silvetti, Massimo Stefano; D’Amico, Adele; Grandinetti, Maria; Drago, Fabrizio; Amodeo, Antonio

doi:10.3390/jcm9103186

Cited by 33 publications

(20 citation statements)

References 112 publications

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“…The most frequently reported NMDs are the Duchenne and Becker muscular dystrophies. We decided not to discuss them in this review due to our extensive discussion concerning cardiac management in children [ 4 ]. Other conditions that more frequently present in children with peculiar phenocopies include Friedreich’s Ataxia, myotonic dystrophy (congenital form), Kearns Sayre, RYR1 associated defects, and Laminopathies.…”

Section: Introductionmentioning

confidence: 99%

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

Baban¹,

Lodato²,

Parlapiano

et al. 2021

Biomolecules

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Neuromuscular disorders (NMDs) are highly heterogenous from both an etiological and clinical point of view. Their signs and symptoms are often multisystemic, with frequent cardiac involvement. In fact, childhood onset forms can predispose a person to various progressive cardiac abnormalities including cardiomyopathies (CMPs), valvulopathies, atrioventricular conduction defects (AVCD), supraventricular tachycardia (SVT) and ventricular arrhythmias (VA). In this review, we selected and described five specific NMDs: Friedreich’s Ataxia (FRDA), congenital and childhood forms of Myotonic Dystrophy type 1 (DM1), Kearns Sayre Syndrome (KSS), Ryanodine receptor type 1-related myopathies (RYR1-RM) and Laminopathies. These changes are widely investigated in adults but less researched in children. We focused on these specific topics due their relative frequency and their potential unexpected cardiac manifestations in children. Moreover these conditions present different inheritance patterns and mechanisms of action. We decided not to discuss Duchenne and Becker muscular dystrophies due to extensive work regarding the cardiac aspects in children. For each described NMD, we focused on the possible cardiac manifestations such as different types of CMPs (dilated-DCM, hypertrophic-HCM, restrictive-RCM or left ventricular non compaction-LVNC), structural heart abnormalities (including valvulopathies), and progressive heart rhythm changes (AVCD, SVT, VA). We describe the current management strategies for these conditions. We underline the importance, especially for children, of a serial multidisciplinary personalized approach and the need for periodic surveillance by a dedicated heart team. This is largely due to the fact that in children, the diagnosis of certain NMDs might be overlooked and the cardiac aspect can provide signs of their presence even prior to overt neurological diagnosis.

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Section: Introductionmentioning

confidence: 99%

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

Baban¹,

Lodato²,

Parlapiano

et al. 2021

Biomolecules

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“…Thirtyeight boys with DMD, who fulfilled the inclusion criteria were enrolled (study flow chart, Figure 1). The mean age was 8.8 ± 1.6 years, and median follow-up duration in the pediatric neurology clinic was 11.5 (3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20)(21)(22) months (Table 1). The diagnosis of DMD was confirmed with genetic testing in 36 boys and with muscle biopsy in two cases.…”

Section: Resultsmentioning

confidence: 99%

“…Global longitudinal strain (GLS) was measured by STE. GLS < 16% was considered abnormal, 16-18% was borderline strain and >18% strain was considered normal (13)(14)(15)(16). CMRI appointments were scheduled within 2-4 weeks of clinical and echocardiographic evaluation.…”

Section: Methodsmentioning

confidence: 99%

Cardiac MRI and Echocardiography for Early Diagnosis of Cardiomyopathy Among Boys With Duchenne Muscular Dystrophy: A Cross-Sectional Study

et al. 2022

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BackgroundCardiomyopathy is an important cause of morbidity and mortality in boys with Duchenne muscular dystrophy (DMD). Early diagnosis is a prerequisite for timely institution of cardioprotective therapies.ObjectiveWe compared cardiac MRI (CMRI) with transthoracic echocardiography (TTE) including tissue Doppler imaging (TDI) and speckle tracking echocardiography (STE) for diagnosis of cardiomyopathy in early ambulatory boys with DMD.MethodologyThis cross-sectional study was conducted between June 2018 and December 2020. Consecutive boys between 7 and 15 years of age with DMD were enrolled. Percentage ejection fraction (EF), fractional shortening, wall motion abnormalities, early diastolic mitral annulus velocity (Ea), medial mitral annulus ratio (E/Ea), and global strain were measured with STE. CMRI-derived EF, segmental hypokinesia, and late gadolinium enhancement (LGE) were studied and compared.ResultsA total of 38 ambulatory boys with DMD were enrolled. The mean age was 8.8 ± 1.6 years, and none had clinical features suggestive of cardiac dysfunction. In the TTE, EF was ≤55% in 5 (15%), FS was ≤28% in 3 (9%), and one each had left ventricular wall thinning and wall hypokinesia. In TDI, none had diastolic dysfunction, and STE showed reduced global strain of < 18% in 3 (9%) boys. CMRI-derived EF was ≤55% in 20 (53%) boys and CMRI showed the presence of left ventricular wall hypokinesia in 9 (24%) and LGE in 4 (11%) boys.ConclusionCardiomyopathy remains clinically asymptomatic among early ambulatory boys with DMD. A significantly higher percentage of boys revealed early features of DMD-related cardiomyopathy in CMRI in comparison with echocardiography.

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“…Some of our patients with DCM had neuromuscular disease [39]. As already reported, the use of an ICD for Duchenne muscular dystrophy cardiomyopathy may be associated with improved survival rates and minimal complications in patients who show severe LV dysfunction [40,41]. On the other hand, our cohort included patients with pediatric onset laminopathy, where further delineation was detailed in a separated report [42].…”

Section: Discussionmentioning

confidence: 99%

ICD Outcome in Pediatric Cardiomyopathies

Silvetti

Tamburri

Campisi

et al. 2022

JCDD

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Background: Pediatric patients with cardiomyopathies are at risk of malignant arrhythmias and sudden cardiac death (SCD). An ICD may prevent SCD. The aim of this study was to evaluate ICD implantation outcomes, and to compare transvenous and subcutaneous ICDs (S-ICDs) implanted in pediatric patients with cardiomyopathies. Methods: The study is single center and retrospective, and includes pediatric patients with cardiomyopathies who required ICD implantation (2010–2021). Outcomes were recorded for appropriate/inappropriate ICD therapy and surgical complications. Transvenous ICD and S-ICD were compared. Data are presented as median values (25th–75th centiles). Results: Forty-four patients with cardiomyopathies (hypertrophic 39%, arrhythmogenic 32%, dilated 27%, and restrictive 2%) underwent transvenous (52%) and S-ICD (48%) implantation at 14 (12–17) years of age, mostly for primary prevention (73%). The follow-up period was 29 (14–60) months. Appropriate ICD therapies were delivered in 25% of patients, without defibrillation failures. Lower age at implantation and secondary prevention were significant risk factors for malignant ventricular arrhythmias that required appropriate ICD therapies. ICD-related complications were surgical complications (18%) and inappropriate shocks (7%). No significant differences in outcomes were recorded, either when comparing transvenous and S-ICD or comparing the different cardiomyopathies. Conclusions: In pediatric patients with cardiomyopathy, ICD therapy is effective, with a low rate of inappropriate shocks. Neither ICD type (transvenous and S-ICDs) nor the cardiomyopathies subgroup revealed divergent outcomes.

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Duchenne Dilated Cardiomyopathy: Cardiac Management from Prevention to Advanced Cardiovascular Therapies

Cited by 33 publications

References 112 publications

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

Cardiac MRI and Echocardiography for Early Diagnosis of Cardiomyopathy Among Boys With Duchenne Muscular Dystrophy: A Cross-Sectional Study

ICD Outcome in Pediatric Cardiomyopathies

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