Cardiac Phenotype Characterization at MRI in Patients with Danon Disease: A Retrospective Multicenter Case Series

Radiology ◽  
2021 ◽  
pp. 203996
Author(s):  
Xiaoyu Wei ◽  
Lei Zhao ◽  
Jiajun Xie ◽  
Yang Liu ◽  
Zhicheng Du ◽  
...  
Keyword(s):  
Case Series ◽  
Danon Disease ◽  
Phenotype Characterization

scholarly journals Three female patients with Danon disease presenting with predominant cardiac phenotype: a case series

2019 ◽  
Vol 3 (3) ◽  
Author(s):  
Bart A Mulder ◽  
Yvonne M Hoedemaekers ◽  
Maarten P van den Berg ◽  
Rosa L E van Loon ◽  
Anna M Wind ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Accessory Pathway ◽  
Disease Onset ◽  
Case Series ◽  
Final Diagnosis ◽  
Left Ventricular ◽  
Danon Disease ◽  
Female Patients ◽  
Cardiac Phenotype ◽  
Male Patients

Abstract Background Danon disease is a rare X-linked multisystemic disorder that has primarily been described in male patients. Case summary We present three female patients with Danon disease with a predominantly cardiac phenotype in whom disease onset and expression was very different from that of male patients. Case 1 was first admitted for acute heart failure and then readmitted a few months later for cardiac shock, necessitating mechanical support, and heart transplantation. Case 2 had complex arrhythmias for which many antiarrhythmic drugs were tried with only limited success. Her disease accelerated after her first pregnancy, and she showed reduced left ventricular function and dilated cardiomyopathy. Case 3 was referred for near syncope and ablated for an accessory pathway; she had extensive left ventricular hypertrophy. In all three cases, a final diagnosis of Danon disease was only made after genetic testing that identified a causal variant in the lysosome-associated membrane protein 2 gene. Discussion Danon disease in female patients is a challenging diagnosis that may not be identified until genetic testing has been performed.

scholarly journals Detection of intracellular histological abnormalities using cardiac magnetic resonance T1 mapping in patients with Danon disease: a case series

2021 ◽  
Vol 5 (5) ◽  
Author(s):  
Hideaki Suzuki ◽  
Yoshiaki Morita ◽  
Ryoko Saito ◽  
Shunsuke Tatebe ◽  
Tetsuya Niihori ◽  
...  
Keyword(s):  
Cardiac Magnetic Resonance ◽  
Magnetic Resonance ◽  
T1 Mapping ◽  
Extracellular Volume ◽  
Case Series ◽  
Left Ventricular ◽  
Musculoskeletal Symptoms ◽  
Danon Disease ◽  
Autophagic Vacuoles ◽  
Native T1

Abstract Background Danon disease is an X-linked dominant disorder with defects in the lysosome-associated membrane protein 2 (LAMP2) gene and is characterized histologically by intracellular autophagic vacuoles in skeletal and cardiac muscles. Cardiac magnetic resonance (CMR) T1 mapping potentially allows to differentiate intracellular and extracellular cardiac abnormalities with a combination of native T1 value and extracellular volume (ECV) fraction. Case summary We assessed CMR T1 mapping in two Danon disease patients (a 22-year-old man and his 48-year-old mother), who had a LAMP2 c.864G>A p. Val288Val mutation, and two blood relatives without Danon disease (his 47-year-old maternal aunt and 49-year-old father). The male patient underwent a left ventricular (LV) assist device implantation at 15 months after the image acquisition because he was inotrope dependent (INTERMACS profile 3) and had no noticeable psychological or musculoskeletal symptoms. His mother was in New York Heart Association Class II with mildly reduced LV ejection fraction (46%). The Danon group showed late gadolinium enhancement (LGE) in the anterior and posterolateral LV walls. In the interventricular wall, where evident LGE was not noted, the Danon group had high native T1 value, compared with the T1 value in the non-Danon group, and normal ECV fraction. Cardiac biopsy from the interventricular wall showed intracytoplasmic autophagic vacuoles, which are characteristics of Danon disease. Discussion This characteristic pattern of high native T1 and normal ECV fraction in the areas without LGE, which may reflect the existence of intracytoplasmic autophagic vacuoles, may support the differential diagnosis of Danon disease from other cardiomyopathies.

scholarly journals Utility of 4-Dimensional echocardiography and left ventricular systolic strain measured by 2-dimensional speckle-tracking for Danon Disease- a case series

2021 ◽  
Author(s):  
Ma Changsheng ◽  
Fan Jiali ◽  
Zhou Bingyuan ◽  
Zhou Jiawei ◽  
Wang Li ◽  
...  
Keyword(s):  
Cardiac Fibrosis ◽  
Case Series ◽  
Left Ventricular ◽  
Left Ventricular Ejection ◽  
Functional Evaluation ◽  
Systolic Strain ◽  
Ventricular Ejection Fraction ◽  
Danon Disease ◽  
Specific Strain ◽  
Dimensional Echocardiography

Abstract Background Danon disease is an X-linked multisystemic disorder characterised by skeletal myopathy, cardiomyopathy and intellectual disability. Summary of cases Herein we describe two patients affected by Danon disease from the same family, a father (patient 1) and his daughter (patient 2). In patient 1 a short PR interval with pre-excitation was evident. In patient 2, over a 24-hour period 2369 atrial premature beats and rare isolated ventricular ectopics were detected. Both patients exhibited left ventricular hypertrophy with non-compaction myocardium, and the left ventricular ejection fraction was impaired in patient 1 and normal in patient 2. In patient 2, the total left ventricular strain value was reduced, and layer-specific strain revealed that subepicardial strain impaired more than in other layers. Late gadolinium enhancement was detected both in left and right ventricles in patient 2, and cardiac fibrosis was more apparent in the subepicardium of left ventricular free wall. Four-dimensional echocardiography revealed that left atrial reservoir strain and left ventricular total longitudinal strain were induced. Discussion Novel four-dimensional echocardiography and left ventricular systolic strain may play important role in diagnosis and myocardial functional evaluation in Danon disease.

Abstract #856 A Case Series Review of Clinical and Biochemical Characteristics of Pituitary Abcess in Mexican Patients

2018 ◽  
Vol 24 ◽  
pp. 202-203
Author(s):  
Mireya Perez-Guzman ◽  
Alfredo Nava de la Vega ◽  
Arturo Pena Velarde ◽  
Tania Raisha Torres Victoria ◽  
Froylan Martinez-Sanchez ◽  
...  
Keyword(s):  
Case Series ◽  
Biochemical Characteristics ◽  
Mexican Patients

Cannabis-associated arteritis

VASA ◽  
2010 ◽  
Vol 39 (1) ◽  
pp. 43-53 ◽  
Author(s):  
Grotenhermen
Keyword(s):  
Systematic Review ◽  
Case Reports ◽  
Case Series ◽  
Cardiovascular Effects ◽  
Causative Factor ◽  
Cannabis Use ◽  
Thromboangiitis Obliterans ◽  
Pathological Features ◽  
Scientific Support ◽  
Clinical And Pathological Features

Background: To investigate the hypothesis that cases of arteritis similar to thromboangiitis obliterans (TAO) and associated with the use of cannabis were caused by cannabis or THC (dronabinol), or that cannabis use is a co-factor of TAO. Patients and methods: A systematic review on case reports and the literature on so-called cannabis arteritis, TAO, and cardiovascular effects of cannabinoids was conducted. Results: Fifteen reports with 57 cases of an arteritis associated with the use of cannabis and two additional case series of TAO, in which some patients also used cannabis, were identified. Clinical and pathological features of cannabis-associated arteritis do not differ from TAO and the major risk factor of TAO, tobacco use, was present in most, if not in all of these cases. The proposed pathophysiological mechanisms for the development of an arteritis by cannabis use are not substantiated. Conclusions: The hypothesis of cannabis being a causative factor or co-factor of TAO or an arteritis similar to TAO is not supported by the available evidence. The use of the term “cannabis arteritis” should be avoided until or unless more convincing scientific support is forthcoming.

Propranolol Weakens Trauma-Related Psychophysiological Arousal: A Case Series

2009 ◽  
Author(s):  
Emilie Thomas ◽  
Joaquin Poundja ◽  
Alain Brunet ◽  
Jacques Tremblay
Keyword(s):  
Case Series ◽  
Psychophysiological Arousal
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