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Sensorineural Deafness with Dilated Cardiomyopathy

Neurosensory Deafness with Dilated Cardiomyopathy


Presentation

  • Improve your interpretation of presenting symptoms with 38 new topics and 40 new images in the Differential Diagnosis section, and optimize patient care with more than 250 new figures and tables.[books.google.com]
  • Improve your interpretation of presenting symptoms with 39 new topics in the Differential Diagnosis section, and optimize patient care with 12 new tables in the Clinical Practice Guidelines section.[books.google.com]
  • Mitochondrial diseases are heterogeneous and multifaceted, and can present at any age.[bcmj.org]
  • Hypodontia was noted with mostly primary teeth present. Cutaneous exam revealed taut, shiny skin on the fingers and diffuse cutis marmorata.[nature.com]
  • Results of initial blood and urine tests together with serial plasma lactate levels from presentation are shown in Fig. 1 and Table 1 respectively. Fig. 1 Plasma lactate profile from 11 months of age (time of presentation to nephrology) to present.[bmcresnotes.biomedcentral.com]
Congestive Heart Failure
  • Sudden congestive heart failure resulting from dilated cardiomyopathy (dysfunctioning of the heart muscle) is often seen, either in early infancy or adolescence. Older individuals often present with restrictive cardiomyopathy.[alstrom.org]
  • Moderate-to-severe hearing loss was evident by late adolescence, whereas ventricular dysfunction produced progressive congestive heart failure after the fourth decade.[ncbi.nlm.nih.gov]
  • heart failure and arrhythmia.[genecards.org]
  • Minor criteria: Obesity and/or insulin resistance and/or Type 2 Diabetes History of dilated cardiomyopathy with congestive heart failure.[en.wikipedia.org]
  • Disease description A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.[uniprot.org]
Physician
  • He is also an attending physician in the Multidisciplinary Liver Cancer Clinic at Parkland Memorial Hospital. Dr.[profiles.utsouthwestern.edu]
  • Understanding the general characteristics of pediatric and adult-onset mitochondrial disease and some typical clinical manifestations can allow family physicians to better serve their patients.[bcmj.org]
Feeding Difficulties
  • Difficulties, and Delayed Brain Myelination 1 Neurodevelopmental Disorder with Involuntary Movements 1 Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy 1 Neuroferritinopathy 1 Neurofibromatosis, Familial Spinal 2 Neurofibromatosis[preventiongenetics.com]
Failure to Thrive
  • Fred Ferri’s popular "5 books in 1" format provides quick guidance on menorrhagia, Failure to Thrive (FTT), Cogan’s syndrome, and much more.[books.google.com]
  • In pediatric mitochondrial disease, a broad spectrum of findings may be present, including lethargy, hypotonia, failure to thrive, seizures, cardiomyopathy, deafness, blindness, movement disorder, and lactic acidosis.[bcmj.org]
Heart Failure
  • Stay on top of the latest advances in molecular imaging, intravascular ultrasound, cardiovascular regeneration and tissue engineering, device therapy for advanced heart failure, atrial fibrillation management, structural heart disease, Chagasic heart[books.google.com]
  • Attenuated eya4 transcript levels produced morphologic and hemodynamic features of heart failure.[ncbi.nlm.nih.gov]
  • Elevated levels of brain natriuretic peptide (BNP, NT-pro-BNP) may be useful to confirm a diagnosis of heart failure but alone, are not diagnostic of heart failure.[thecardiologyadvisor.com]
  • Sudden congestive heart failure resulting from dilated cardiomyopathy (dysfunctioning of the heart muscle) is often seen, either in early infancy or adolescence. Older individuals often present with restrictive cardiomyopathy.[alstrom.org]
Heart Disease
  • Stay on top of the latest advances in molecular imaging, intravascular ultrasound, cardiovascular regeneration and tissue engineering, device therapy for advanced heart failure, atrial fibrillation management, structural heart disease, Chagasic heart[books.google.com]
  • Interestingly enough, hearing loss and heart disease can arise from the same genetic factors.[audicus.com]
  • Seven patients had acquired heart disease most commonly left ventricle hypertrophy, biventricular hypertrophy and rheumatic heart disease.[indianpediatrics.net]
  • To determine why previously described mutated EYA4 alleles cause SNHL without heart disease, we examined biochemical interactions of mutant Eya4 peptides.[ncbi.nlm.nih.gov]
  • Recognition of this cardioauditory disorder allows for the identification of young adults at risk for serious heart disease, thereby enabling early intervention.[ncbi.nlm.nih.gov]
Palpitations
  • There was no history of a preceding viral illness, weight loss, haemoptysis, joint swelling, palpitations and decreased urine output. There was no past or family history of tuberculosis or cardiovascular disease.[indianpediatrics.net]
Speech Disorders
  • disorder and with or without mental retardation 4 Epilepsy, Hearing Loss, and Mental Retardation Syndrome 1 Epilepsy, Idiopathic Generalized 9 1 Epilepsy, Idiopathic Generalized, Susceptibility To, 11 1 Epilepsy, Idiopathic Generalized, Suscpetibility[preventiongenetics.com]

Treatment

  • Treatment Treatment Options: Surgical removal of cataracts may be indicated.[disorders.eyes.arizona.edu]
  • It is wise to be aware of the possible problems so that early signs and symptoms can be spotted and early treatments sought.[alstrom.org.uk]
  • Because the condition unfolds gradually from birth and the different manifestations vary from individual to individual, correct diagnosis is often delayed leading to suboptimal treatment and a failure to anticipate future developments.[ciliopathyalliance.org]

Prognosis

  • Prognosis The prognosis will depend on the progression of glucose intolerance, cardiomyopathy, renal dysfunction and liver impairment. Total blindness and deafness are likely to develop.[patient.info]
  • Although most people affected die in early adulthood, the age of onset, rate of progression, disease complications, as well as overall prognosis and outcome vary within families [5, 10].[bjmp.org]
  • Identifying the genetic mutation not only helped to confirm the diagnosis but also in decision making regarding therapeutic options and counseling the family regarding prognosis.[bmcresnotes.biomedcentral.com]
  • [ edit ] A prognosis for Alström syndrome is complicated because it widely varies.[en.wikipedia.org]
  • Prognosis in Neurology. Butterworth-Heinemann. 1998:347-9. Griggs RC, Mendell JR, Miller RG. The muscular dystrophies. In: Evaluation and Treatment of Myopathies. Philadelphia: FA Davis Co. 1995:122-8. Kissel JT, McDermott MP, Mendell JR, et al.[emedicine.medscape.com]

Etiology

  • Many cases (25–30%) of DCM are familial, indicating a genetic contribution to the etiology.[bjmp.org]
  • Images Dilated cardiomyopathy Etiology nongenetic conditions infectious or postinfectious conditions Coxsackie virus Q and B Enteroviruses Mumps Coryne diphteroides Endocrine/vitamin/mineral disorders Thyrotoxicosis Hypothyroidism Vitamin E deficiency[humpath.com]
  • In many patients, however, DCM may have a complex etiology with contributions from one or more genetic variants of lesser effect size together with acquired factors.[thecardiologyadvisor.com]
  • Recent advances in the etiology, diagnosis and treatment of myocarditis and cardiomyopathies in children. Current Opinion in Pediatrics. 1995; 7:587-594 Mason JW. Classification of cardiomyopathies. In: Fuster V, Alexander RW, O'Rourke RA, eds.[starship.org.nz]

Epidemiology

  • […] patients during infancy or adolescence. [ 2 ] Renal failure, pulmonary, hepatic, and urological dysfunction are often observed, and systemic fibrosis develops with age. [ 2 ] The gene map locus for the affected mutated gene (ALMS1) is 2p12-13. [ 3 ] Epidemiology[patient.info]
  • Relevant External Links for EYA4 Genetic Association Database (GAD) EYA4 Human Genome Epidemiology (HuGE) Navigator EYA4 Atlas of Genetics and Cytogenetics in Oncology and Haematology: EYA4 No data available for Genatlas for EYA4 Gene EYA4, a novel vertebrate[genecards.org]
  • Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy: a population-based study in Olmsted County, Minnesota, 1975–1984 . Circulation 1989 ;80: 564 –72. 3. Schmidt MA, Michels VV, Edwards WD, Miller FA. .[nejm.org]
  • Association Scientific Statement From the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology[starship.org.nz]
  • Genetic epidemiology of hearing impairment. Ann NYAS 630;16-31. Nakamura Y and others. Abnormal evoked potentials of Kearns-Sayre syndrome.[dizziness-and-balance.com]
Sex distribution
Age distribution

Pathophysiology

  • RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for pathophysiology of facioscapulohumeral dystrophy. Hum Mol Genet. 2009. 18:2414-2430. Statland JM, Tawil R.[emedicine.medscape.com]
  • Endocrine system Endocrine disorders may present in childhood or may develop over time and present in adulthood.[ 17,18 ] Diabetes mellitus with a complex pathophysiology can occur.[bcmj.org]
  • An ultimate goal of genetics studies is to understand the molecular mechanisms underpinning DCM development and to devise therapies that will reverse or stop the primary disease pathophysiology.[thecardiologyadvisor.com]
  • "Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease" . Cell 55(4):601-610.[mitomap.org]

Prevention

  • Rapidly find the answers you need with separate sections on diseases and disorders, differential diagnosis, clinical algorithms, laboratory results, and clinical preventive services, plus an at-a-glance format that uses cross-references, outlines, bullets[books.google.com]
  • Pathways Forward in Cardiovascular Disease Prevention One and a Half Years After Publication of the 2013 ACC/AHA Cardiovascular Disease Prevention Guidelines. Mayo Clin Proc. 90(9):1262-1271.[medschool.umaryland.edu]
  • Prevention [ edit ] Prevention for Alström syndrome is considered to be harder compared to other diseases/syndromes because it is an inherited condition.[en.wikipedia.org]
  • Early identification of individuals at risk is of paramount importance as this provides an opportunity for early intervention and prevention of DCM development.[thecardiologyadvisor.com]

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