Endorsed by the heart failure society of america and the heart failure association of the european society of cardiology. The most striking finding in muscle biopsy samples is small basophilic granules scattered in myofibers, which are in fact. Males with danon disease usually develop the condition earlier than females and are more severely affected. Other novel therapies including gene therapy, use of human induced. Revelo is an ideal pointofcare reference for the accurate diagnosis of complex cardiovascular specimens.
Cardiomyopathy is a severe and lifethreatening problem, for which cardiac transplantation is the only therapeutic option. The facts and conclusions presented may have since changed and may no longer be accurate. Identification of novel therapeutics for danon disease. Leukodystrophy generally refers to a genetic disorder that affects white matter most often present in children, can occur in adulthood demyelination often progresses in occipital to frontal manner and there is often sparing of the u fibers short association fibers, wikipedia. Danon disease as an underrecognized cause of hypertrophic. A novel lamp2 mutation associated with severe cardiac. Danon disease is an xlinked recessive lysosomal glycogen storage disease with normal acid maltase caused by mutations in the lysosomalassociated membrane protein 2 or lamp2 gene nishino et al. Differential diagnosis glycogenosis type ii pompe disease danon disease differs from juvenile or adult forms of glycogenosis type ii by the. Hematoxylin and eosin hestained sections show small dotlike basophilic granular structures in the muscle fibers, which are acetylcholine esterase ache. The first description of danon disease was in 1981 when 2 boys with heart and skeletal muscle disease muscle weakness and mental retardation were described. Danon disease is caused by a genetic defect mutation in a gene called lamp2 lysosomalassociated membrane protein 2. Danon disease genetic and rare diseases information. The pathology laboratory works to support key clinical services in the hospital and associated clinics, including the operating room, labor and delivery, the newborn nursery, the emergency room, bone marrow transplant service, cancerblood disorder treatment specialties. Free infectious diseases books download ebooks online.
Danon disease is a rare xlinked dominant genetic disorder that manifests with the clinical triad of cardiomyopathy, skeletal myopathy, and intellectual disability. Danon disease life expectancy in men is 19 years, while females affected with this disease can live up to the age of 34 years. Danon disease is a type of heart failure that patients inherit. This gene was identified as causing danon disease, a lysosomal. Danon disease is a rare xlinked dominant lysosomal glycogen storage disease that can lead to severe ventricular hypertrophy and heart failure. However, some women with danon disease have progressed to the point of needing a heart transplant. Consideration of cardiac transplantation is necessary because of the limited life expectancy of teenaged male patients, who have a high incidence of sudden death. Signs and symptoms begin in childhood or adolescence in most. Other clinical manifestations include skeletal myopathy, cognitive defects and visual problems.
Danon disease is an xlinked dominant skeletal and cardiac muscle disorder with multisystem clinical manifestations. Clinical hallmarks are a severe cardiomyopathy, muscle weakness, and mild. Danon disease medigoo health tests and free medical. Genedx 207 perry parkway gaithersburg, md 20877 toll free. Danon disease is an xlinked dominant disorder characterized by intracytoplasmic vacuoles containing autophagic material and glycogen in cardiac and skeletal muscle cells, cardiomyopathy, and skeletal myopathy, with or without conduction defect, wolfparkinsonwhite wpw syndrome, or mental retardation 68. Danon disease is an xlinked dominant disorder predominantly affecting cardiac muscle. Concise, focused chapters, supported by tables, diagrams, radiographs, and photographs, provide essential information to keep you up to date with new cardiac devices, the. Lysosomes are particles found in cells, they contain enzymes that break down substances within the cell. A novel lamp2 positive dilated cardiomyopathy has also been reported 146. It was first described in boys presenting with cardiomyopathy, skeletal myopathy, and varying degrees of intellectual disability. A novel lamp2 mutation associated with severe cardiac hypertrophy and microvascular remodeling in a female with danon disease. We report a case of danon disease with cardiac involvement evaluated with cardiovascular magnetic resonance, including.
Danon disease stories stories of danon disease tell your story and help others. Danon disease looked initially like another rare genetic condition called pompe disease. Description part of the highly regarded diagnostic pathology series, this updated volume by drs. Ideal sources for wikipedia s health content are defined in the guideline wikipedia. Males are more severely affected and show symptoms in childhood or early adolescence, while affected females usually develop the symptoms later, in adolescence or adulthood. Iyers son, suraj, was diagnosed with danon disease when he was 7 years old. Choose from 500 different sets of common diseases pathology flashcards on quizlet. Danon disease dysregulation of autophagy in a multisystem. Danon disease mutation and one normal xchromosome where the lamp2 gene is functioning normally. Danon disease is a rare genetic condition causing heart disease cardiomyopathy, muscle weakness, and mental development problems. Learn common diseases pathology with free interactive flashcards. Danon disease, like pompe disease, is a muscle disorder caused by a primary defect in lysosomal proteins. Danon disease is a condition characterized by weakening of the heart muscle cardiomyopathy.
This book gives a comprehensive overview of recent trends in infectious diseases, as well as general concepts of infections, immunopathology, diagnosis, treatment, epidemiology and etiology to current clinical. Several reports mention patients with danon disease who underwent cardiac transplantation. Danon disease caused by two novel mutations of the lamp2 gene. Association fiber can result from a wide range of genetic defects involving formation, maintenance and breakdown of. Changes in the retina of the eye, leading to visual disturbances, may be present. Danon disease is a multisystem condition with predominant. Skeletal muscle involvement and mental retardation are variable. Danon disease is an xlinked dominant disorder characterized by intracytoplasmic vacuoles containing autophagic material and glycogen in cardiac and skeletal muscle cells, cardiomyopathy, and skeletal myopathy with or without a conduction defect, wolffparkinsonwhite syndrome, or mental retardation. We believe that our work will help in the development of new drugs to treat danon disease. Danon disease is a rare genetic condition characterized by weakening of the heart muscle cardiomyopathy, weakening of the muscles used for movement skeletal muscles myopathy, and intellectual disability. A critical evaluation of liver pathology in humans with danon disease and.
A genetic disorder characterized by heart problems, mental retardation and muscle weakness. The trip database provides clinical publications about evidencebased. Danon disease is a rare, severe xlinked form of cardiomyopathy caused by deficiency of lysosomeassociated membrane protein 2 lamp2. Danon disease has been referred to as glycogen storage disease iib gsdiib. This book was my first introduction to pathology and i am greatful. Danon disease is an xlinked dominant glycogen storage disease. The normal xchromosome protects females and explains, in part, the less severe symptoms and the delay in onset of symptoms until adulthood. Infectious diseases are the worlds greatest killers that present one of the most significant health and security challenges facing the global community.
Danon disease is an xlinked systemic disorder characterized by left ventricular hypertrophy, mental retardation, and skeletal myopathy affecting young men. Danon disease is a rare genetic condition characterized by weakening of the. Also, similar to the human pathology, lamp2knockout mice develop severely reduced. Because of its rarity, the medical community is largely unaware of the condition and the number of people affected by it. While the exact danon disease prevalence is not known, it is a very rare condition, and as a consequence, not many doctors are aware of its diagnosis. Danon disease is a rare xlinked disorder comprising hypertrophic cardiomyopathy, skeletal myopathy, intellectual disability, and retinopathy. The role of endomyocardial biopsy in the management of cardiovascular disease.
In males, mean disease onset is in their early teens and in females in their late twenties. Heart experts stress the importance of genetic testing and diagnosis. Danon disease due to a novel lamp2 microduplication. Patients who suffer from danon disease cannot correctly perform autophagy, which is a way that cells recycle proteins. Danon the disease reliablerxpharmacy blog, health blog. Become ambassador and add your answer history of danon disease. The nature of disease pathology for health professions by thomas h. The number of patients with danon disease in the united states is estimated to be less than 500. Topics include detailed discussion of typical presentation and diagnostic and treatment strategies. In patients with danon disease, the basic biological process of removing and recycling dysfunctional cellular machinery doesnt work properly. Most affected persons exhibit private point mutations. Signs and symptoms begin in childhood or adolescence in most affected males and in early adulthood in most affected females. Danon disease is an xlinked disorder clinically characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Hypertrophic cardiomyopathy hcm is a wellrecognized cardiac muscle disorder that has been known by various names, including idiopathic.
Repeat cardiac transplant indicated by severe cardiac allograft vasculopathy in a patient with danon disease. It gives just enough information without overloading on the details some textbooks have this problem where it rattles off a bunch of facts before getting to the big picture. Part of the highly regarded diagnostic pathology series, this updated volume by drs. Rare disease articles symptoms, diagnostic workup, treatment. Danon disease is a rare genetic disorder characterized by an xlinked dominant inheritance pattern, as a result of which males are more severely affected than females. In danon disease, however, although hcm is a major feature, other organ systems are also involved.