Psychosis in a patient with Danon cardiomyopathy

Hatz, Daniel; Sharma, Ashish; Germer, Katherine E.; Rolfsmeyer, Emily A.; Bowen, Joslin M.

doi:10.1016/j.genhosppsych.2010.01.010

Cited by 4 publications

(5 citation statements)

References 6 publications

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“…One psychiatric case report on an affected 19-year male described significant psychosis, suicidal ideations, and attention-deficit hyperactivity disorder. 33 Another 38-year-old male patient transplanted 15 years previously developed depression, cognitive decline with dementing features, and severe paranoia necessitating psychiatric hospitalization (un-published data). It is unclear currently if either psychiatric episode was related to Danon disease.…”

Section: Clinical and Diagnostic Manifestations In Malesmentioning

confidence: 99%

“…Charcot-Marie-Tooth features, including pes cavus, distal lower limb atrophy with mild axonal neuropathy and sensory loss were also described in a 24-year-old male patient with Danon disease, suggestive of a neuropathic disease instead of a primary muscular disorder. 34 Other mental symptoms in males include speech and language delay, 27, 35 attention deficit, 33 behavioral problems, 25, 33 and dysmetria. 36 …”

Section: Clinical and Diagnostic Manifestations In Malesmentioning

confidence: 99%

See 1 more Smart Citation

Danon Disease

D’Souza

Levandowski

Slavov

et al. 2014

Circ: Heart Failure

176

113

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Section: Clinical and Diagnostic Manifestations In Malesmentioning

confidence: 99%

Section: Clinical and Diagnostic Manifestations In Malesmentioning

confidence: 99%

Danon Disease

D’Souza

Levandowski

Slavov

et al. 2014

Circ: Heart Failure

176

113

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“…While the current literature suggests that most men and a fraction of affected women have intellectual disability (Sugie et al, , ), to the best of our knowledge, cognitive abilities were not rigorously assessed in previous studies (Boucek et al, ; Danon et al, ). Same goes with reports on psychiatric comorbidities in DD which are almost entirely missing from DD medical literature (Hatz, Sharma, Germer, Rolfsmeyer, & Bowen, ; Tanidir, Tanidir, & Tuzcu, ). In one study, formal IQ tests were performed in five male patients and their IQ was found to be in a range of 60‐91 (Sugie et al, ).…”

Section: Introductionmentioning

confidence: 70%

“…In fact, to date, there are only two single case‐studies describing clinical/psychiatric symptoms in individuals with DD. One study described the case of a 19 years old male with ADHD who developed psychosis and suicidal ideations few years after undergoing a heart transplant (Hatz et al, ). The second case study described a 16 years old male with mood and anxiety symptoms (Tanidir et al, ).…”

Section: Discussionmentioning

confidence: 99%

Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation)

Yardeni

Weisman

Mandel

et al. 2017

American J of Med Genetics Pt A

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Danon disease (DD) is a rare X-linked disorder caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein. It is characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Whereas the molecular and pathophysiological mechanisms underlying this disorder have been previously reported and continue to be explored, the cognitive deficits and psychiatric comorbidities manifested in DD remain an understudied topic. We systematically assessed cognitive abilities and psychiatric comorbidities in 13 males and females. Most of the participants in our cohort (n=9; 75%) had an IQ score within the normal range, while only one participant had intellectual disability. Participants' performance on the Cognitive Neuropsychiatric Battery (CNB) showed only mildly impaired cognitive abilities in most modules, except in the executive functioning test, which was low compared to healthy controls. Of note, 69% of the participants met criteria for at least one psychiatric disorder, mainly mood and anxiety disorders, occurring alone or in combination in the same patient. The results of the present study challenge earlier reports suggesting that mental retardation is a core constituent in DD. Of importance, it underscores the need to refer Danon patients to psychiatric assessment.

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“…Learning disabilities and mild cognitive deficits are present in 70% to 100% of affected men. In addition to the high prevalence of cognitive problems, speech and language delay, behavioral problems, attention deficit, and motor discoordination have been reported (Burusnukul et al, ; Hatz et al, ; Rothaug et al, ; Sugie et al, ). Despite the severe symptoms, Danon disease is a rare condition and unfamiliar to most physicians, making it difficult to diagnose.…”

Section: Introductionmentioning

confidence: 99%

Studying the pathophysiologic connection between cardiovascular and nervous systems using stem cells

Coskun

Lombardo

2016

J of Neuroscience Research

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The cardiovascular and nervous systems are deeply connected during development, health, and disease. Both systems affect and regulate the development of each other during embryogenesis and the early postnatal period. Specialized neural crest cells contribute to cardiac structures, and a number of growth factors released from the cardiac tissue (e.g., glial cell line-derived neurotrophic factor, neurturin, nerve growth factor, Neurotrophin-3) ensure proper maturation of the incoming parasympathetic and sympathetic neurons. Physiologically, the cardiovascular and nervous systems operate in harmony to adapt to various physical and emotional conditions to maintain homeostasis through sympathetic and parasympathetic nervous systems. Moreover, neurocardiac regulation involves a neuroaxis consisting of cortex, amygdala, and other subcortical structures, which have the ability to modify lower-level neurons in the hierarchy. Given the interconnectivity of cardiac and neural systems, when one undergoes pathological changes, the other is affected to a certain extent. In addition, there are specific neurocardiac diseases that affect both systems simultaneously, such as Huntington disease, Lewy body diseases, Friedreich ataxia, congenital heart diseases, Danon disease, and Timothy syndrome. Over the last decade, in vitro modeling of neurocardiac diseases using induced pluripotent stem cells (iPSCs) has provided an invaluable opportunity to elevate our knowledge about the brain-heart connection, since previously primary cardiomyocytes and neurons had been extremely difficult to maintain long-term in vitro. Ultimately, the ability of iPSC technology to model abnormal functional phenotypes of human neurocardiac disorders, combined with the ease of therapeutic screening using this approach, will transform patient care through personalized medicine in the future. © 2016 Wiley Periodicals, Inc.

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Psychosis in a patient with Danon cardiomyopathy

Cited by 4 publications

References 6 publications

Danon Disease

Danon Disease

Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation)

Studying the pathophysiologic connection between cardiovascular and nervous systems using stem cells

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