Hearing impairment, and Sudden cardiac death

Diseases related with Hearing impairment and Sudden cardiac death

In the following list you will find some of the most common rare diseases related to Hearing impairment and Sudden cardiac death that can help you solving undiagnosed cases.

Top matches:

Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.

SENSORINEURAL DEAFNESS WITH DILATED CARDIOMYOPATHY Is also known as neurosensory deafness with dilated cardiomyopathy|neurosensory hearing loss with dilated cardiomyopathy|cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant|sensorineural hearing loss with dilated cardiomyopathy

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cardiomyopathy
  • Congestive heart failure
  • Dilated cardiomyopathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SENSORINEURAL DEAFNESS WITH DILATED CARDIOMYOPATHY

Congenital long QT syndrome is electrocardiographically characterized by a prolonged QT interval and polymorphic ventricular arrhythmias (torsade de pointes). These cardiac arrhythmias may result in recurrent syncope, seizure, or sudden death (Jongbloed et al., 1999).A form of torsade de pointes in which the first beat has a short coupling interval has been described (OMIM ). Genetic Heterogeneity of Long QT SyndromeThere are other forms of LQT syndrome (LQTS) associated with mutations in various genes encoding ion channel subunits: LQT2 (OMIM ) is caused by mutation in the KCNH2 gene (OMIM ), LQT3 (OMIM ) is caused by mutation in the SCN5A gene (OMIM ), LQT4 (see {600919}) is caused by mutation in the ANK2 gene (OMIM ), LQT5 is caused by mutation in the KCNE1 gene (OMIM ), LQT6 (OMIM ) is caused by mutation in the KCNE2 gene (OMIM ), LQT7 (Andersen cardiodysrhythmic periodic paralysis, {170390}) is caused by mutation in the KCNJ2 gene (OMIM ), LQT8 (Timothy syndrome; {601005}) is caused by mutation in the CACNA1C gene (OMIM ), LQT9 (OMIM ) is caused by mutation in the CAV3 gene (OMIM ), LQT10 (OMIM ) is caused by mutation in the SCN4B gene (OMIM ), LQT11 (OMIM ) is caused by mutation in the AKAP9 gene (OMIM ), LQT12 (OMIM ) is caused by mutation in the SNTA1 gene (OMIM ), LQT13 (OMIM ) is caused by mutation in the KCNJ5 gene (OMIM ), LQT14 (OMIM ) is caused by mutation in the CALM1 gene (OMIM ), and LQT15 (OMIM ) is caused by mutation in the CALM2 gene (OMIM ).Approximately 10% of LQTS patients in whom a mutation is identified in one ion channel gene carry a second mutation in the same gene or in another ion channel gene (Tester et al., 2005).

LONG QT SYNDROME 1; LQT1 Is also known as romano-ward syndrome|ventricular fibrillation with prolonged qt interval|rws|wrs|ward-romano syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Depressivity
  • Arrhythmia
  • Paralysis


SOURCES: OMIM MENDELIAN

More info about LONG QT SYNDROME 1; LQT1

Jervell and Lange-Nielsen syndrome (JLNS) is an autosomal recessive variant of familial long QT syndrome (see this term) characterized by congenital profound bilateral sensorineural hearing loss, a long QT interval on electrocardiogram and ventricular tachyarrhythmias.

JERVELL AND LANGE-NIELSEN SYNDROME Is also known as long qt interval-deafness syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Diarrhea
  • Sudden cardiac death
  • Syncope


SOURCES: OMIM ORPHANET MENDELIAN

More info about JERVELL AND LANGE-NIELSEN SYNDROME

Other less relevant matches:

The Jervell and Lange-Nielsen syndrome is an autosomal recessive disorder characterized by congenital deafness, prolongation of the QT interval, syncopal attacks due to ventricular arrhythmias, and a high risk of sudden death (Jervell and Lange-Nielsen, 1957).

JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1 Is also known as prolonged qt interval in ekg and sudden death|deafness, congenital, and functional heart disease|surdo-cardiac syndrome|cardioauditory syndrome of jervell and lange-nielsen

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Anemia


SOURCES: OMIM MENDELIAN

More info about JERVELL AND LANGE-NIELSEN SYNDROME 1; JLNS1

Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Medium match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Medium match HARLEQUIN ICHTHYOSIS

Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

HARLEQUIN ICHTHYOSIS Is also known as ichthyosis congenita, harlequin type|'harlequin fetus'|ichthyosis congenita, harlequin fetus type|harlequin ichthyosis|ichthyosis fetalis, harlequin type|hi

Related symptoms:

  • Global developmental delay
  • Cataract
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HARLEQUIN ICHTHYOSIS

Medium match GIANT CELL ARTERITIS

Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

Medium match TIMOTHY SYNDROME

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Low match FABRY DISEASE

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Top 5 symptoms//phenotypes associated to Hearing impairment and Sudden cardiac death

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Ventricular tachycardia Uncommon - Between 30% and 50% cases
Syncope Uncommon - Between 30% and 50% cases
Ventricular arrhythmia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Sudden cardiac death. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Tachycardia Ventricular fibrillation Torsade de pointes Prolonged QT interval Cardiac arrest Depressivity Cataract Intellectual disability Cognitive impairment Myalgia Pain T-wave alternans Sensorineural hearing impairment Hyperhidrosis Arthritis Bradycardia Palpitations Cardiomyopathy Congestive heart failure

Rare Symptoms - Less than 30% cases

Elevated erythrocyte sedimentation rate Conductive hearing impairment Anorexia Midface retrusion Diabetes insipidus Muscular hypotonia Depressed nasal bridge Hematuria Frontal balding Oligospermia Spontaneous abortion Behavioral abnormality Joint stiffness Paresthesia Vertigo Fatigue Hyperkeratosis Respiratory insufficiency Global developmental delay Peripheral neuropathy Fever Optic atrophy Edema Biventricular hypertrophy Renal insufficiency Headache Abdominal pain Arthralgia Stroke Cough Dilated cardiomyopathy Short stature Confusion Congenital sensorineural hearing impairment Ptosis Anemia Muscle weakness Hypertrophic cardiomyopathy Atrioventricular dissociation Diarrhea Hypertension Loss of consciousness Abnormal intestine morphology Atrioventricular block Epileptic spasms T-wave inversion Myopathy Dysphagia Constipation Hypothyroidism Chest pain Obsessive-compulsive behavior 2-3 toe syndactyly Cutaneous syndactyly Mitral regurgitation Bronchitis Multiple joint contractures Myocardial infarction Atrial fibrillation Subcutaneous nodule Thick lower lip vermilion Mixed hearing impairment Abnormal lung morphology Fasciculations Left ventricular hypertrophy Reduced bone mineral density Polydipsia Glomerulosclerosis Hemiplegia Abnormality of the hand Patent foramen ovale Prominent supraorbital ridges Chronic kidney disease Easy fatigability Tinnitus Ischemic stroke Hypohidrosis Corneal dystrophy Progressive hearing impairment Aortic regurgitation Hyperlipidemia Purpura Aminoaciduria Exercise intolerance Abnormal autonomic nervous system physiology Lymphedema Ventricular hypertrophy Hypothermia Abnormality of dental enamel Carcinoma Corneal opacity Prominent nasal bridge Skin rash Personality changes Hypoplasia of dental enamel Abnormality of the kidney Abnormality of the nervous system Proteinuria Anxiety Coarse facial features Pruritus Amelogenesis imperfecta Mandibular prognathia Dyspnea Posteriorly rotated ears Dilatation Vomiting Abnormal direction of ventricular apex Abnormality of dental color Cutaneous syndactyly of toes Papule Abnormality of the cerebral white matter Nephrotic syndrome Nephropathy Mitral valve prolapse Cutaneous finger syndactyly Perimembranous ventricular septal defect Abnormality of the cardiovascular system Hypotension Urinary incontinence Abdominal distention Muscle cramps Protruding tongue Hypocalcemia Malabsorption Thick vermilion border Thick eyebrow Bulbous nose Nausea Stage 5 chronic kidney disease Sinusitis Optic nerve hypoplasia Delayed puberty Nausea and vomiting Developmental regression Abnormal EKG Heart murmur Retinal vascular tortuosity Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Vascular skin abnormality Impaired temperature sensation Decreased female libido Abnormality of cardiovascular system physiology Abnormal endocardium morphology Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Obstructive lung disease Hyposthenuria Chronic pain Hyperkeratotic papule Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Abnormality of the forehead Shortened QT interval Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Tubulointerstitial fibrosis Abnormal renal physiology Clubbing Telangiectasia of the skin Transient ischemic attack Xerostomia Pulmonary arterial hypertension Abnormality of lipid metabolism Aortic root aneurysm Wheezing Renal tubular acidosis Glycosuria Abnormal heart valve morphology Glomerulopathy Celiac disease Edema of the lower limbs Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Coronary artery atherosclerosis Impotence Bundle branch block Emphysema Anhidrosis Polyuria Tricuspid regurgitation Impaired vibratory sensation Renal tubular dysfunction Tubulointerstitial nephritis Miosis Myocardial fibrosis Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy High-frequency hearing impairment Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Abnormality of femur morphology Chronic fatigue Sinus bradycardia Elevated serum creatinine Achalasia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Large earlobe Abnormality of the gastrointestinal tract Tubular atrophy Abnormality of the face Generalized hypotonia Cardiomegaly Obesity Dental malocclusion Short palm Micromelia Joint hyperflexibility Narrow chest Neurological speech impairment Hyperlordosis Apnea Severe short stature Malar flattening Abnormality of the ribs Kyphosis Hydrocephalus Anteverted nares Ventriculomegaly Abnormality of the skeletal system Frontal bossing Macrocephaly Intrauterine growth retardation Brachydactyly Limb undergrowth Lumbar hyperlordosis Hyperreflexia Elbow dislocation Large forehead Abnormality of the elbow Obstructive sleep apnea Spinal canal stenosis Disproportionate short stature Limited elbow extension Mesomelia Flared metaphysis Chronic otitis media Abnormality of pelvic girdle bone morphology Abnormality of the metaphysis Genu varum Short long bone Disproportionate short-limb short stature Acanthosis nigricans Wormian bones Clonus Rhizomelia Dental crowding Bowing of the long bones Abnormal form of the vertebral bodies Dysarthria Iridescent posterior subcapsular cataract Neonatal short-limb short stature Bilateral sensorineural hearing impairment Hypogonadism Elevated serum creatine phosphokinase Tremor Skeletal muscle atrophy Subarachnoid hemorrhage Generalized tonic-clonic seizures Iron deficiency anemia Vestibular dysfunction Delayed gross motor development Polymorphic ventricular tachycardia Proximal muscle weakness Prolonged QTc interval Abnormal T-wave Atrial arrhythmia Periodic paralysis Abnormality of the ear Postural instability Paralysis Recurrent infections of the middle ear Abnormal cardiac ventricular function Severe hearing impairment Diabetes mellitus Mental deterioration Insulin insensitivity Neurofibrillary tangles Diffuse leukoencephalopathy Type 2 muscle fiber atrophy Hypersomnia Arteriosclerosis Neck flexor weakness IgM deficiency Elevated circulating follicle stimulating hormone level Male hypogonadism IgG deficiency Increased variability in muscle fiber diameter Distal muscle weakness Epiphora Myotonia Leukoencephalopathy Hypercholesterolemia Progressive muscle weakness Decreased antibody level in blood Lower limb muscle weakness Infertility Limb muscle weakness Muscular dystrophy Diaphyseal thickening Long thorax Tetralogy of Fallot Arteritis Ventricular septal defect Myopia Wide nasal bridge Low-set ears Abnormal facial shape Hypertelorism Jaw claudication Retinal arteritis Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Glossitis Syndactyly Gastrointestinal infarctions Impaired mastication Abdominal aortic aneurysm Amaurosis fugax Mediastinal lymphadenopathy Abnormality of the pleura Recurrent pharyngitis Abnormal thrombocyte morphology Arterial thrombosis Cerebral ischemia Abnormality of the dentition Immunodeficiency Gangrene Abnormal cardiac septum morphology Microdontia Esotropia Round face Hypoplasia of the maxilla Coma Joint hypermobility Toe syndactyly Carious teeth Hip dislocation Autistic behavior Recurrent infections Hypoglycemia Thin upper lip vermilion Gastroesophageal reflux Autism Prominent forehead Pneumonia Abnormal heart morphology Patent ductus arteriosus Encephalopathy Abnormality of cardiovascular system morphology Aortic dissection Pericarditis Aplasia/hypoplasia of the extremities Sepsis Self-injurious behavior Ectropion Hand polydactyly Recurrent skin infections Thickened skin Depressed nasal ridge Dehydration Premature birth Limitation of joint mobility Everted lower lip vermilion Short finger Ichthyosis Small for gestational age Rigidity Proptosis Respiratory failure Recurrent respiratory infections Acromelia Abnormality of the ilium Childhood onset short-limb short stature Narrow sacroiliac notch Erythroderma Congenital ichthyosiform erythroderma Visual field defect Alopecia Ophthalmoparesis Vasculitis Meningitis Skin ulcer Diplopia Epistaxis Optic disc pallor Hepatic failure Weight loss Visual loss Foot polydactyly Blindness Visual impairment Nystagmus Ataxia Eclabion Hypergranulosis Congenital nonbullous ichthyosiform erythroderma Lack of skin elasticity Hearing abnormality Malignant hyperthermia Cornea verticillata


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