Cardiomyopathy in neurological disorders

Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim

doi:10.1016/j.carpath.2012.12.008

Cited by 36 publications

(20 citation statements)

References 184 publications

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“…130 In general, there are fewer published references regarding cardiac involvement in BMD than for DMD. 13,19,37,[131][132][133][134][135][136][137] Approximately 70% of BMD patients develop dilated cardiomyopathy, mostly in the third decade of life or later. 19,132 They rarely develop severe dilated cardiomyopathy in childhood, 138 but when present in childhood, the cardiomyopathy tends to be more severe and progress more rapidly than in DMD.…”

Section: Cardiac Evaluation In Dmd and Bmdmentioning

confidence: 99%

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

211

195

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For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure. Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes. N euromuscular diseases (NMDs) encompass a broad spectrum of diagnoses with overlapping but distinct phenotypes. Common to many NMDs is cardiac involvement. Although the past 3 decades have seen marked advances in our understanding of many NMDs, significant gaps in knowledge remain on how best to approach cardiac care in these patients. For example, survival in Duchenne muscular dystrophy (DMD) has been extended through the use of glucocorticoid use and respiratory support, yet cardiac complications remain a significant cause of morbidity and mortality.1-3 To achieve further gains in care, we will need to improve our understanding of the pathophysiologies driving cardiac involvement in NMDs and advance treatments aimed at preventing the progression of heart failure (HF) and sudden death in NMDs. The recently published findings of an expert working group on cardiac involvement in DMD, which outlined key gaps in knowledge and made specific recommendations aimed at improving diagnosis and management, are a step toward this goal. 4 In this statement, we include a comprehensive overview of the major categories of NMDs with cardiac involvement. For each, a brief background of the gene defect(s), common clinical manifestations (particularly cardiac findings), and current therapies is summarized. Gaps in knowledge are highlighted, and where possible, clinical treatment suggestions are made by the expert writing group appointed by the American Heart Association to review the available literature. Selection of the writing group was performed in accordance with the American Heart Association's conflict-of-interest management policy. Participants volunteered to write sections relevant to their expertise and experience. CLINICAL STATEMENTS AND GUIDELINESconducted a general search of the literature, restricted to human subjects research published between 1980 and 2016. Drafts of each section were written and sent to the chair of the writing group for incorporation into a single document, which was then edited. The edited document was discussed electron...

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Section: Cardiac Evaluation In Dmd and Bmdmentioning

confidence: 99%

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

211

195

View full text Add to dashboard Cite

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“…A second characteristic of noncompaction is hypoplasia of the left ventricular papillary muscles, the basis for which is unclear. The condition is occasionally associated with neuromuscular disease [Stöllberger et al, 2011;Finsterer et al, 2013]. Noncompaction is important clinically because the structural abnormality may be the basis for cardiac dysfunction such as heart failure and arrhythmias, as well as mural thrombi [Freedom et al, 2005;Bartram et al, 2007].…”

Section: The Term Noncompaction Refersmentioning

confidence: 99%

“…Noncompaction is important clinically because the structural abnormality may be the basis for cardiac dysfunction such as heart failure and arrhythmias, as well as mural thrombi [Freedom et al, 2005;Bartram et al, 2007]. The condition is occasionally associated with neuromuscular disease [Stöllberger et al, 2011;Finsterer et al, 2013]. Cases have been documented to be familial, and distinctive facial dysmorphism has been noted [Chin et al, 1980].…”

Section: Introductionmentioning

confidence: 99%

Noncompaction in the fetus and neonate: An autopsy study

Ursell¹

2013

American J of Med Genetics Pt C

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Noncompaction refers to an uncommon structural abnormality of the heart's ventricular myocardium characterized by an abnormally thick layer of left ventricular trabeculations, as well as hypoplastic papillary muscles. The condition is associated with a variable clinical phenotype including heart failure, thromboembolism, and sudden death. In this retrospective study of fetal and neonatal autopsy hearts with noncompaction, clinical profiles were correlated with gross and histologic findings and compared with a set of age-matched controls. Pathologic criteria for noncompaction included hypoplastic left ventricular papillary muscles, abnormal trabecular architecture and greater than 50% penetration of the left ventricular wall thickness by intertrabecular recesses. Among eight fetuses and full-term neonates with pathologic features of noncompaction, all had evidence of severe heart failure, including four with complete heart block and two others with bradycardia. None experienced sudden death. Seven of eight hearts had associated heart malformations-four with left atrial isomerism, two with aortic and/or pulmonary valve dysplasia consistent with stenosis and, one with atrial septal defect. One heart with noncompaction had no associated malformations. With characteristic excessive trabeculation in the left ventricle, noncompaction also included biventricular endocardial fibroelastosis that denoted right ventricular involvement in all hearts. Thus, (1) among autopsied fetuses and neonates with noncompaction, heart failure including heart block is a common cause of death, (2) noncompaction is often associated with various cardiovascular malformations, but even in isolation it can be the basis for severe cardiac failure, and (3) biventricular endocardial fibroelastosis in noncompaction suggests a global pathologic process.

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“…DCM can also present with muscular involvement and may be the presenting or primary clinical feature of several multi-system conditions, including Emery-Dreifuss muscular dystrophy (EDMD), Barth syndrome, myofibrillar myopathy, limb-girdle muscular dystrophy (LGMD), and Duchenne or Becker muscular dystrophy (DMD/BMD) [14]. …”

Section: Introductionmentioning

confidence: 99%

Inherited Cardiomyopathies

Towbin

2014

Circ J

158

148

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Cardiomyopathies, diseases of the heart muscle, are major causes of morbidity and mortality. A significant percentage of patients with cardiomyopathies have genetic-based, inheritable disease and, over the past two decades the genetic causes of these disorders have been increasingly discovered. The genes causing these disorders when they are mutated appear to encode proteins that frame a “final common pathway” for that specific disorder but the specifics of the phenotype, including age of onset, severity, and outcome is variable for reasons not yet understood. The “final common pathways” for the classified forms of cardiomyopathy include the sarcomere in the primarily diastolic dysfunction disorders hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM), the linkage of the sarcomere and sarcolemma in the systolic dysfunction disorder dilated cardiomyopathy (DCM), and the desmosome in arrhythmogenic cardiomyopathy (AVC). Left ventricular noncompaction cardiomyopathy (LVNC) is an overlap disorder and appears that any of these “final common pathways” can be involved depending on the specific form of LVNC. The genetics and mechanisms responsible for these clinical phenotypes will be described.

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Cardiomyopathy in neurological disorders

Cited by 36 publications

References 184 publications

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Noncompaction in the fetus and neonate: An autopsy study

Inherited Cardiomyopathies

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