Genetic Infiltrative Cardiomyopathies

Sweet, Mary E.; Mestroni, Luisa; Taylor, Matthew R.G.

doi:10.1016/j.hfc.2017.12.003

Cited by 15 publications

(5 citation statements)

References 101 publications

(118 reference statements)

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“…Typical examples of genetic disorders leading to myocardial storage include lysosomal storage diseases (Anderson-Fabry disease, mucopolysaccharidoses), and glycogen storage disorders (Danon disease, Pompe disease, Cori disease, PRKAG2 cardiomyopathy). 189 Cardiomyopathies caused by inborn errors of metabolism often have an overlapping phenotype between HCM and RCM, although occasionally can present as DCM. Clinical manifestations also include electrophysiological changes (conduction abnormalities) and/or valvular involvement.…”

Section: Accumulation Of Storage Materials Within the Cardiomyocytesmentioning

confidence: 99%

“…It is mainly caused by inborn errors of metabolism except for some types of iron overload. Typical examples of genetic disorders leading to myocardial storage include lysosomal storage diseases (Anderson–Fabry disease, mucopolysaccharidoses), and glycogen storage disorders (Danon disease, Pompe disease, Cori disease, PRKAG2 cardiomyopathy) 189 . Cardiomyopathies caused by inborn errors of metabolism often have an overlapping phenotype between HCM and RCM, although occasionally can present as DCM.…”

Section: Restrictive Cardiomyopathymentioning

confidence: 99%

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State‐of‐the‐art document on optimal contemporary management of cardiomyopathies

Seferović

Polovina

Rosano

et al. 2023

European J of Heart Fail

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Section: Accumulation Of Storage Materials Within the Cardiomyocytesmentioning

confidence: 99%

Section: Restrictive Cardiomyopathymentioning

confidence: 99%

State‐of‐the‐art document on optimal contemporary management of cardiomyopathies

Seferović

Polovina

Rosano

et al. 2023

European J of Heart Fail

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“…Primary cardiomyopathies appear to be less common in MPS patients than secondary ( 10 ) and likely are resultant directly from accumulation of GAGs within myocytes ( 2 , 87 ). Ventricular hypertrophy is the most common primary cardiomyopathy seen in MPS patients ( 11 , 45 ), in particular I, II, and VI subtypes ( 88 , 89 ) with up to 50% of these groups demonstrating increased left ventricular mass ( 90 ). Electrocardiogram analysis for ventricular hypertrophy in this cohort is unlikely to be diagnostic as GAGs infiltration is non-conducting ( 11 , 91 ), therefore reliance on imaging modalities such as echocardiography is essential.…”

Section: Cardiovascular Evaluationmentioning

confidence: 99%

“…Insurance of assessment and treatment for reversible causes of acute cardiomyopathy such as myocarditis is an essential part of hospital management. Overall, there is growing evidence that ERT and HSCT therapies can cause stabilization and even regression of primary cardiomyopathies in MPS patients ( 15 , 88 , 90 , 91 ) and therefore cardiac interventions for primary cardiomyopathies are less likely to be required compared with medical therapy.…”

Section: Cardiovascular Evaluationmentioning

confidence: 99%

Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention

Cross

Stępień

Gadepalli

et al. 2022

Front. Cardiovasc. Med.

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Mucopolysaccharidoses (MPS) are rare lysosomal storage diseases characterized by multiorgan involvement and shortened longevity. Due to advances in therapies such as enzyme replacement therapy and haematopoietic stem cell therapy, life expectancy has increased posing newer challenges to patients and health professionals. One such challenge is cardiovascular manifestations of MPS, which can be life limiting and cause reduction in quality of life. Any cardiovascular intervention mandates comprehensive, multi-systemic work-up by specialist teams to optimize outcome. We highlight the importance of multidisciplinary evaluation of adult MPS patients requiring cardiovascular intervention. Clinical assessments and investigations are discussed, with a focus on the cardiac, anesthetic, airway, respiratory, radiological and psychosocial factors.

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“…The most recent systematic review of Danon disease revealed that 34.9% of patients experienced death or received a heart transplant or ventricular assist devices (9). Therefore, patients with Danon disease must be distinguished from patients with myocardial hypertrophy, such as PRKAG2 syndrome and Fabry disease, which are glycogen storage diseases that also clinically lead to cardiac hypertrophy and electrophysiologic abnormalities (10), and hypertrophic cardiomyopathy (HCM) with sarcomere protein mutations.…”

Section: Introductionmentioning

confidence: 99%

Clinical and molecular characterization of seven patients with Danon disease

Wang

Zhu

et al. 2021

Exp Ther Med

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Danon disease is an X-linked glycogen storage disease characterized by skeletal myopathy, cardiomyopathy and intellectual impairment. It is caused by a loss-of-function mutation in the lysosome-associated membrane protein-2 (LAMP2) gene. In the present study, exon and boarding intron analysis of 96 cardio disease-associated genes was performed in 770 patients with hypertrophic cardiomyopathy (HCM) using second-generation sequencing. Next, the identified mutations were confirmed in family members of the patients and 300 healthy controls. Detailed clinical, electrocardiographic (ECG) and echocardiographic findings were recorded. A pathogenic mutation in LAMP2 was identified in 7 patients who phenotypically presented with HCM. A total of four patients had a fragmented QRS complex (fQRS) on surface ECG. In addition, two patients presented with ventricular preexcitation with a short PR interval. Compared with the patients with protein kinase AMP-activated non-catalytic subunit γ2 syndrome and Fabry disease, the 7 patients with Danon disease presented at an earlier age, had a smaller left atrial size, a thinner maximal left ventricular wall thickness and a lower probability of pacemaker implantation. Compared with 12 sex-and age-matched patients with sarcomere-protein mutations, the 4 patients with Danon disease had a lower left ventricular outflow tract gradient and worse diastolic function. The present study provided a comprehensive comparison of different pathologies presenting with HCM and reported on features of early-onset Danon disease, including the characteristic preexcitation and fQRS on ECG. This may provide valuable information that may be utilized for the early diagnosis and treatment of patients with Danon disease. The present study was registered as a clinical trial with ClinicalTrials.gov (Sep. 2, 2016; registry no. NCT02888132).

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Genetic Infiltrative Cardiomyopathies

Cited by 15 publications

References 101 publications

State‐of‐the‐art document on optimal contemporary management of cardiomyopathies

State‐of‐the‐art document on optimal contemporary management of cardiomyopathies

Pre-operative Considerations in Adult Mucopolysaccharidosis Patients Planned for Cardiac Intervention

Clinical and molecular characterization of seven patients with Danon disease

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