scholarly journals Prevalence and clinical characteristics of Danon disease among patients with left ventricular hypertrophy and concomitant electrocardiographic preexcitation

2019 ◽  
Vol 7 (5) ◽  
pp. e638 ◽  
Author(s):  
Yang Liu ◽  
Xin Chen ◽  
Feng Wang ◽  
Yingcong Liang ◽  
Hai Deng ◽  
...  
2014 ◽  
Vol 41 (3) ◽  
pp. 332-334 ◽  
Author(s):  
Jiwon Kim ◽  
Parag Parikh ◽  
Mohammad Mahboob ◽  
James A. Arrighi ◽  
Michael K. Atalay ◽  
...  

Danon disease is a rare, codominant X-linked genetic disorder characterized by the triad of left ventricular hypertrophy, mental retardation, and peripheral myopathy. This disease is caused by mutations in the gene that encodes lysosomal associated membrane protein 2 (LAMP2), a deficiency of which results in the accumulation of autophagic granular débris within the vacuoles of muscle cells. This is a report of an asymptomatic 19-year-old man with Danon disease in the absence of mental retardation or clinically significant skeletal myopathy. This case underscores the importance of accurate diagnosis of unexplained left ventricular hypertrophy, in order to establish an appropriate treatment plan and to advise genetic counseling.


2016 ◽  
Vol 221 ◽  
pp. 14-16 ◽  
Author(s):  
Michael B. Stokes ◽  
Andrew J. Taylor ◽  
Catriona A. McLean ◽  
Colleen E. D'Arcy ◽  
Justin A. Mariani

2020 ◽  
Vol 16 (2) ◽  
pp. 231-239
Author(s):  
O. V. Blagova ◽  
E. A. Kogan ◽  
V. P. Sedov ◽  
Yu. A. Lutokhina ◽  
A. V. Nedostup ◽  
...  

Aim. To analyze the difficulties of diagnosis and the clinical features of the Danon disease in women.Results. An observation of Danon disease in a woman aged 18 years with an uncomplicated family history is presented. The early development of atrial fibrillation (at the age of not more than 15 years) in combination with atrioventricular blockade against the background of regular sports was not attracted due attention for 3 years. The examination revealed: a moderate degree of left ventricular hypertrophy (up to 17 mm), its diffuse nature and simultaneous involvement of the right ventricle, signs of heart failure due to severe restrictive disorders with preserved ejection fraction. Cardiac magnetic resonance imaging data (non-specific late gadolinium enhancement) became the basis for the assumption of amyloidosis and the implementation of a myocardial biopsy. An erroneous diagnosis of cardiac amyloidosis according to myocardial biopsy was refuted during a second study, the PAS reaction revealed signs of storage disease. The diagnosis of Danon disease was verified using DNA diagnostics (c.731delG mutation was detected). Due to the presence of unsustained paroxysmal ventricular tachycardia and a high calculated risk of sudden death, cardioverter-defibrillator was implanted. The analysis of literature data on the frequency and the manifestation of Danon disease in women, the place of this disease in the structure of the causes of myocardial hypertrophy is given.Conclusion. Atrial fibrillation at a young age and left ventricular hypertrophy syndrome can develop due to primary myocardial diseases not well known in the practice of a cardiologist. They require an in-depth diagnostic search; their identification is critical for determining treatment tactics and prognosis.


2014 ◽  
Vol 19 (2) ◽  
pp. 11-15
Author(s):  
Steven L. Demeter

Abstract The fourth, fifth, and sixth editions of the AMA Guides to the Evaluation of Permanent Impairment (AMA Guides) use left ventricular hypertrophy (LVH) as a variable to determine impairment caused by hypertensive disease. The issue of LVH, as assessed echocardiographically, is a prime example of medical science being at odds with legal jurisprudence. Some legislatures have allowed any cause of LVH in a hypertensive individual to be an allowed manifestation of hypertensive changes. This situation has arisen because a physician can never say that no component of LVH was not caused by the hypertension, even in an individual with a cardiomyopathy or valvular disorder. This article recommends that evaluators consider three points: if the cause of the LVH is hypertension, is the examinee at maximum medical improvement; is the LVH caused by hypertension or another factor; and, if apportionment is allowed, then a careful analysis of the risk factors for other disorders associated with LVH is necessary. The left ventricular mass index should be present in the echocardiogram report and can guide the interpretation of the alleged LVH; if not present, it should be requested because it facilitates a more accurate analysis. Further, if the cause of the LVH is more likely independent of the hypertension, then careful reasoning and an explanation should be included in the impairment report. If hypertension is only a partial cause, a reasoned analysis and clear explanation of the apportionment are required.


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