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Left ventricular assist device implantation in an adult male with Danon disease
We report the case of an adult male patient with dilated-phase hypertrophic cardiomyopathy secondary to Danon disease, who received an LVAD as a bridge to transplantation.<Learning objective: Some patients with Danon disease who underwent heart transplantation have been reported in Japan, but all were female. Male patients with Danon disease have more severe systemic comorbidities than females and heart failure progression is usually too rapid for them to be listed as heart transplant candidates. We present a rare case of an adult male with Danon disease who successfully underwent implantation of a left-ventricular ass...
Source: Journal of Cardiology Cases - July 9, 2019 Category: Cardiology Source Type: research

Clinical Findings and Prognosis of Danon Disease. An Analysis of the Spanish Multicenter Danon Registry
ConclusionsThe clinical characteristics of DD differ substantially from traditional descriptions: age at presentation of DD is older, the disease is not multisystemic in women, and pre-excitation is infrequent.ResumenIntroducción y objetivosLa enfermedad de Danon (ED) es una enfermedad producida por mutaciones en el gen LAMP2. Se la considera una enfermedad multisistémica caracterizada por miocardiopatía hipertrófica con preexcitación e hipertrofia extrema, discapacidad intelectual, miopatía, presentación infantil y peor pronóstico en varones. Hay pocas series que permitan conocer las características clínicas y e...
Source: Revista Espanola de Cardiologia - August 12, 2018 Category: Cardiology Source Type: research

P.15.9 An X-linked dominant mutation in LAMP2 causing Danon disease associated with myotonia expanding the spectrum
This report describe a family with Danon disease, a rare X-linked dominant condition, but an important differential diagnosis for patient with cardiomyopathy, myopathy and learning difficulty, having a strong family history of cardiomyopathy. While skeletal muscles biopsy showed vacuolar myopathy, these abnormal vacuolar changes also extended to the cardiac muscles. Diagnostic confirmation is important when counseling the long term prognosis for this family. While symptomatic treatment is available for the heart failure, with a progressive course of cardiomyopathy the ultimate cure is heart transplantation.
Source: Neuromuscular Disorders - September 16, 2013 Category: Neurology Authors: S.H.S. Chan, A. Kan, H.F. Tse Source Type: research