Cardiac magnetic resonance imaging of mucopolysaccharidosis type II cardiomyopathy

Kara, Meriem Mostefa; Groote, Pascal de; Abboud, Georges; Tillie‐Leblond, I.; Mouquet, Frédéric

doi:10.1016/j.ijcard.2010.10.089

Cited by 6 publications

(4 citation statements)

References 9 publications

(11 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Cardiac magnetic resonance imaging (MRI), with its ability to detect myocardial fibrosis through late gadolinium enhancement, would seem to be an important non-invasive modality in MPS; however, it has been reported only once in a 26-year-old with MPS II, where it was found to be negative 31. Despite the frequent occurrence of fibrosis at postmortem examination, congestive heart failure or dilated cardiomyopathy is reported in no more than 10%–11% of those with MPS (see online supplementary table S3).…”

Section: Cardiac Expression Of Mpsmentioning

confidence: 99%

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs

Braunlin

Wang

2016

Heart

View full text Add to dashboard Cite

The growing availability of innovative treatments for rare genetic diseases with a cardiac component-such as the mucopolysaccharidoses (MPSs)-has changed these syndromes from 'back of the textbook' curiosities of childhood to chronic, but rare, adult cardiac conditions that require both centres of expertise and knowledgeable subspecialists. The MPSs are inherited progressive lysosomal storage diseases, occurring in about 1:25 000 births and resulting from absence of functional hydrolases responsible for the degradation of glycosaminoglycans, naturally occurring complex sugars ubiquitous throughout the body. In the heart, accumulation of glycosaminoglycans occurs within the cardiac valves, the epicardial coronary arteries, the myocytes and cardiac interstitium and the walls of the great vessels. As a consequence, cardiac valve regurgitation and stenosis, diffuse coronary artery stenosis, myocardial dysfunction and aortic root dilation often occur. Haematopoietic cell transplantation and enzyme replacement therapy have changed the previously lethal natural history of the MPSs to one of survival well into adulthood. Despite this improved lifespan, the left-sided cardiac valves continue to show progressive functional involvement and cardiac valve replacement is not uncommon, especially in adults. The risk of any intervention is increased in these patients because of the systemic effects of the disease on the respiratory system and cervical cord. Our current understanding of other cardiac issues in adults with the MPSs, especially with the coronary circulation and myocardium, is meagre and more needs to be known to effectively care for this emerging population of adults. Incorporation of the MPSs, as well as other now-treatable rare diseases, into the educational curriculum of current and future adult subspecialists is an important next step.

show abstract

Section: Cardiac Expression Of Mpsmentioning

confidence: 99%

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs

Braunlin

Wang

2016

Heart

View full text Add to dashboard Cite

show abstract

“…Valve pathologies were also observed, such as stiffened posterior mitral leaflet, while valve diseases were further characterized in the flow sequences. No late enhancement was observed [77]. However, the use of stress perfusion in these patients is also applicable, as they present a diffuse pattern of coronary heart disease [75].…”

Section: Mucopolysaccharidosesmentioning

confidence: 95%

Rare Metabolic and Endocrine Diseases with Cardiovascular Involvement: Insights from Cardiovascular Magnetic Resonance – A Review

Christidi

Mavrogeni

2022

Horm Metab Res

View full text Add to dashboard Cite

The identification of rare diseases with cardiovascular involvement poses significant diagnostic challenges due to the rarity of the diseases, but also due to the lack of knowledge and expertise. Most of them remain underrecognized and undiagnosed, leading to clinical mismanagement and affecting the patients’ prognosis, as these diseases are per definition life-threatening or chronic debilitating. This article reviews the cardiovascular involvement of the most well-known rare metabolic and endocrine diseases and their diagnostic approach through the lens of cardiovascular magnetic resonance (CMR) imaging and its prognostic role, highlighting its fundamental value compared to other imaging modalities.

show abstract

“…Patients often have arterial hypertension, valve heart disease (most commonly mitral regurgitation and aortic stenosis), and LV hypertrophy. Isolated right ventricular involvement has been reported [ 47 , 48 ]. Women can survive in discrete conditions until the adult age and sometimes, in the mildest forms, even after the sixth decade [ 2 ].…”

Section: Genetic Cardiomyopathies Transmitted Exclusively By Womenmentioning

confidence: 99%

Disease features and management of cardiomyopathies in women

Aimo,

Morfino,

Arzilli

et al. 2024

Heart Fail Rev

View full text Add to dashboard Cite

Over the last years, there has been a growing interest in the clinical manifestations and outcomes of cardiomyopathies in women. Peripartum cardiomyopathy is the only women-specific cardiomyopathy. In cardiomyopathies with X-linked transmission, women are not simply healthy carriers of the disorder, but can show a wide spectrum of clinical manifestations ranging from mild to severe manifestations because of heterogeneous patterns of X-chromosome inactivation. In mitochondrial disorders with a matrilinear transmission, cardiomyopathy is part of a systemic disorder affecting both men and women. Even some inherited cardiomyopathies with autosomal transmission display phenotypic and prognostic differences between men and women. Notably, female hormones seem to exert a protective role in hypertrophic cardiomyopathy (HCM) and variant transthyretin amyloidosis until the menopausal period. Women with cardiomyopathies holding high-risk features should be referred to a third-level center and evaluated on an individual basis. Cardiomyopathies can have a detrimental impact on pregnancy and childbirth because of the associated hemodynamic derangements. Genetic counselling and a tailored cardiological evaluation are essential to evaluate the likelihood of transmitting the disease to the children and the possibility of a prenatal or early post-natal diagnosis, as well as to estimate the risk associated with pregnancy and delivery, and the optimal management strategies.

show abstract

Cardiac magnetic resonance imaging of mucopolysaccharidosis type II cardiomyopathy

Cited by 6 publications

References 9 publications

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs

Cardiac issues in adults with the mucopolysaccharidoses: current knowledge and emerging needs

Rare Metabolic and Endocrine Diseases with Cardiovascular Involvement: Insights from Cardiovascular Magnetic Resonance – A Review

Disease features and management of cardiomyopathies in women

Contact Info

Product

Resources

About