Clinical Outcome and Phenotypic Expression in &lt;emph type="ital"&gt;LAMP2&lt;/emph&gt; Cardiomyopathy

Maron, Barry J.; Roberts, William C.; Arad, Michael; Haas, Tammy S.; Spirito, Paolo; Wright, Gregory B.; Almquist, Adrian K.; Baffa, Jeanne M.; Saul, J. Philip; Ho, Carolyn Y.; Seidman, Jonathan G.; Seidman, Christine E.

doi:10.1001/jama.2009.371

Cited by 310 publications

(288 citation statements)

References 22 publications

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“…Cardiomyopathy, skeletal myopathy and mental retardation are the typical triad of Danon disease. 5,14,15 The article will focus on heart, from molecular mechanism, clinical features to characteristics of electrocardiography and echocardiography as well as treatment.…”

mentioning

confidence: 99%

Danon disease: focusing on heart

Cheng

Fang

2012

J Hum Genet

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confidence: 99%

Danon disease: focusing on heart

Cheng

Fang

2012

J Hum Genet

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“…[34][35][36] Although these diseases may have non-cardiac signs and symptoms, disease expression can also be confined only to the heart. The accurate differentiation of these 'phenocopies' is critical as treatment strategies and prognosis differs compared with HCM.…”

Section: Infiltrative Cardiomyopathymentioning

confidence: 99%

“…35 Danon disease, which is due to mutations in genes that encode the lysosomal-associated membrane protein 2, leads to accumulation of intracellular vacuoles and is a profound and accelerated disease process with rapid clinical deterioration leading commonly to advanced heart failure and sudden death at a young age (commonly <25 years old). 36 CMR can be suggestive of the diagnosis in the setting of massive LV hypertrophy with extensive diffuse and often transmural LGE.…”

Section: Infiltrative Cardiomyopathymentioning

confidence: 99%

The Role of Cardiac MRI in the Diagnosis and Risk Stratification of Hypertrophic Cardiomyopathy

Rowin¹,

Maron²

2016

Arrhythmia &Amp; Electrophysiology Review

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Hypertrophic cardiomyopathy (HCM), the most common genetic cardiomyopathy, is a disease characterised by substantial heterogeneity. Although the majority of patients with HCM remain asymptomatic with near-normal longevity, a small, but important, subset remain at risk for a wide range of clinical outcomes including sudden death. Cardiovascular magnetic resonance (CMR), with its high spatial resolution and tomographic imaging capability, has emerged as an imaging modality particularly well suited to characterise the phenotypic expression of HCM. CMR helps in the diagnosis of HCM by identifying areas of hypertrophy not well visualised by echocardiography, providing more accurate wall thickness measurements and differentiating HCM from other causes of left ventricular (LV) hypertrophy. CMR has led to the identification of novel subgroups of patients with HCM, including those with LV apical aneurysms (a subgroup at increased risk for ventricular arrhythmias and thromboembolic stroke), as well as abnormalities that contribute to LV outflow obstruction. Additionally, contrast-enhanced CMR with late-gadolinium enhancement (LGE) has recognised patients with extensive LGE (≥15 % LV myocardium) as individuals who may be at increased risk of sudden death, independent of other high-risk features, with implications on management strategies including consideration for primary prevention implantable cardioverter defibrillator therapy. These observations justify an expanded role of CMR in the routine clinical assessment of patients with HCM.

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“…In a minority of patients who have cardiomyopathy as part of a more global multisystem disease such as Fabry disease, genetic test results already have direct therapeutic implications in terms of enzyme replacement [10 •• ]. In mutations of the X-linked lysosome-associated membrane protein gene, LAMP2, early molecular diagnosis and timely cardiac transplantation has been shown to be associated with better clinical outcome [49]. The immunosuppressant rapamycin (sirolimus) has been suggested as a potential new therapy in attenuating cardiomyopathy.…”

Section: Therapeutic Implications Of Genetic Testingmentioning

confidence: 99%

Recent Developments in the Genetics of Cardiomyopathies

Wijeyeratne

Behr

2013

Curr Genet Med Rep

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The complex nature of familial cardiomyopathies is incompletely understood. The effective management of patients and their relatives therefore requires a multidisciplinary approach involving a specialist genetic counselling service. Genetic testing is clinically available, and our knowledge in this area continues to grow with developments in new technologies. Many of the genes associated are not specific to a particular type of cardiomyopathy, and recent data suggests that some patients may have more than one mutation or variant contributing to disease. Developments in next generation sequencing have enabled us to accurately and efficiently sequence these areas of interest, but the current capacity to analyse and interpret this data (bioinformatics) remains a major limitation. Genetic guided therapies have the potential to revolutionise our management of affected patients in the future but this is far from being a clinical reality at the current time.

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Clinical Outcome and Phenotypic Expression in <emph type="ital">LAMP2</emph> Cardiomyopathy

Cited by 310 publications

References 22 publications

Danon disease: focusing on heart

Danon disease: focusing on heart

The Role of Cardiac MRI in the Diagnosis and Risk Stratification of Hypertrophic Cardiomyopathy

Recent Developments in the Genetics of Cardiomyopathies

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