title: Asymptomatic young man with Danon disease.
abstract: 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.
authors: Departments of Cardiology (Drs. Arrighi, Kim, Mahboob, and Parikh) and Diagnostic Imaging (Dr. Atalay), Rhode Island Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903; and Division of Cardiology (Drs. Maron and Rowin), Tufts Medical Center, Boston, Massachusetts 02111.
authors: Jiwon
authors: J
authors: Kim
authors: Departments of Cardiology (Drs. Arrighi, Kim, Mahboob, and Parikh) and Diagnostic Imaging (Dr. Atalay), Rhode Island Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903; and Division of Cardiology (Drs. Maron and Rowin), Tufts Medical Center, Boston, Massachusetts 02111.
authors: Parag
authors: P
authors: Parikh
authors: Departments of Cardiology (Drs. Arrighi, Kim, Mahboob, and Parikh) and Diagnostic Imaging (Dr. Atalay), Rhode Island Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903; and Division of Cardiology (Drs. Maron and Rowin), Tufts Medical Center, Boston, Massachusetts 02111.
authors: Mohammad
authors: M
authors: Mahboob
authors: Departments of Cardiology (Drs. Arrighi, Kim, Mahboob, and Parikh) and Diagnostic Imaging (Dr. Atalay), Rhode Island Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903; and Division of Cardiology (Drs. Maron and Rowin), Tufts Medical Center, Boston, Massachusetts 02111.
authors: James A
authors: JA
authors: Arrighi
authors: Departments of Cardiology (Drs. Arrighi, Kim, Mahboob, and Parikh) and Diagnostic Imaging (Dr. Atalay), Rhode Island Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903; and Division of Cardiology (Drs. Maron and Rowin), Tufts Medical Center, Boston, Massachusetts 02111.
authors: Michael K
authors: MK
authors: Atalay
authors: Departments of Cardiology (Drs. Arrighi, Kim, Mahboob, and Parikh) and Diagnostic Imaging (Dr. Atalay), Rhode Island Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903; and Division of Cardiology (Drs. Maron and Rowin), Tufts Medical Center, Boston, Massachusetts 02111.
authors: Ethan J
authors: EJ
authors: Rowin
authors: Departments of Cardiology (Drs. Arrighi, Kim, Mahboob, and Parikh) and Diagnostic Imaging (Dr. Atalay), Rhode Island Hospital, Warren Alpert Medical School of Brown University, Providence, Rhode Island 02903; and Division of Cardiology (Drs. Maron and Rowin), Tufts Medical Center, Boston, Massachusetts 02111.
authors: Martin S
authors: MS
authors: Maron
mesh_terms: D058070:Asymptomatic Diseases; D004252:DNA Mutational Analysis; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000517:prevention & control; D017147:Defibrillators, Implantable; D004554:Electric Countershock / Q000295:instrumentation; D004562:Electrocardiography; D020022:Genetic Predisposition to Disease; D052120:Glycogen Storage Disease Type IIb / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis* / Q000209:etiology / Q000628:therapy; D052119:Lysosomal-Associated Membrane Protein 2 / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D055815:Young Adult
chemical_list: C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2
keywords: Cardiomyopathy, hypertrophic/diagnosis; defibrillators, implantable; glycogen storage cardiomyopathy; glycogen storage disease type IIb/diagnosis; hypertrophic cardiomyopathy/diagnosis; left ventricular hypertrophy/etiology; lysosomal storage diseases/genetics/pathology; lysosome-associated membrane glycoproteins; magnetic resonance imaging; male; membrane glycoproteins/deficiency; sarcomeres; young adult