Ventricular septal defect, and Bradycardia

Diseases related with Ventricular septal defect and Bradycardia

In the following list you will find some of the most common rare diseases related to Ventricular septal defect and Bradycardia that can help you solving undiagnosed cases.


Top matches:

Medium match LONG QT SYNDROME 10; LQT10


Related symptoms:

  • Ventricular septal defect
  • Sudden cardiac death
  • Atrial fibrillation
  • Bradycardia
  • Ventricular arrhythmia


SOURCES: OMIM MESH MENDELIAN

More info about LONG QT SYNDROME 10; LQT10

Medium match ATRIAL SEPTAL DEFECT 6; ASD6


Related symptoms:

  • Atrial septal defect
  • Atrial fibrillation
  • Bradycardia


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 6; ASD6

Medium match HOLT-ORAM SYNDROME


Holt-Oram syndrome (HOS) is the most common form of heart-hand syndrome (see this term) and is characterized by skeletal abnormalities of the upper limbs and mild-to-severe congenital cardiac defects.

HOLT-ORAM SYNDROME Is also known as heart-hand syndrome type 1|atriodigital dysplasia type 1|hos

Related symptoms:

  • Scoliosis
  • Ventricular septal defect
  • Atrial septal defect
  • Kyphosis
  • Abnormality of cardiovascular system morphology


SOURCES: ORPHANET MENDELIAN

More info about HOLT-ORAM SYNDROME

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Other less relevant matches:

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

Medium match MUENKE SYNDROME


Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Medium match HOLT-ORAM SYNDROME; HOS


Holt-Oram syndrome is an autosomal dominant disorder characterized by abnormalities of the upper limbs and shoulder girdle, associated with a congenital heart lesion. The typical combination is considered to be a triphalangeal thumb with a secundum atrial septal defect (ASD), but there is a great range in the severity of both the heart and skeletal lesions (summary by Hurst et al., 1991).

HOLT-ORAM SYNDROME; HOS Is also known as atriodigital dysplasia|heart-hand syndrome|hos1

Related symptoms:

  • Intellectual disability
  • Short stature
  • Failure to thrive
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about HOLT-ORAM SYNDROME; HOS

Medium match BOHRING-OPITZ SYNDROME


Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

Medium 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

Medium match INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA


Intellectual developmental disorder with cardiac arrhythmia is an autosomal recessive multisystem disorder characterized by delayed psychomotor development, severe intellectual disability with poor or absent speech, and bradycardia and/or cardiac sinus arrhythmias. Additional features include visual abnormalities, seizures, hypotonia, and gastric reflux (summary by Lodder et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA; IDDCA

Low match CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE


Fukuyama type muscular dystrophy (FCMD) is a congenital progressive muscular dystrophy characterized by brain malformation (cobblestone lissencephaly), dystrophic changes in skeletal muscle, severe intellectual deficit, epilepsy and motor impairment.

CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE Is also known as walker-warburg syndrome or muscle-eye-brain disease, fktn-related|fukuyama congenital muscular dystrophy|fcmd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY, FUKUYAMA TYPE

Top 5 symptoms//phenotypes associated to Ventricular septal defect and Bradycardia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Atrioventricular block Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ventricular septal defect and Bradycardia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Arrhythmia Syndactyly Generalized hypotonia Abnormality of cardiovascular system morphology Atrial fibrillation Abnormal cardiac septum morphology Hypertelorism Muscular hypotonia Low-set ears Cognitive impairment Myopia Respiratory insufficiency Short stature Prominent forehead Sudden cardiac death Dilatation Hearing impairment Strabismus Hypertension Optic atrophy Apnea Pectus excavatum Patent ductus arteriosus Scoliosis Ventricular arrhythmia

Rare Symptoms - Less than 30% cases


Hypoplastic left heart Agenesis of corpus callosum Multiple joint contractures Bundle branch block Patent foramen ovale Ventricular tachycardia Intellectual disability, severe Ventriculomegaly Flexion contracture Intrauterine growth retardation Trigonocephaly Hypoplasia of the brainstem Syncope Atrioventricular canal defect Hip dislocation Autistic behavior Hypertrophic cardiomyopathy Gastroesophageal reflux Hypothyroidism Posteriorly rotated ears Biventricular hypertrophy Abnormal heart morphology Abnormality of the skeletal system Anxiety Proptosis Brachycephaly Clinodactyly Midface retrusion High, narrow palate Hydrocephalus Hypoplasia of the corpus callosum Short foot Frontal bossing Delayed speech and language development Camptodactyly of finger Macrocephaly Abnormality of the kidney Prolonged QT interval High palate Sensorineural hearing impairment T-wave alternans Low anterior hairline Plagiocephaly Constipation Depressivity Anemia Phocomelia Anomalous pulmonary venous return Myocardial fibrosis Nausea Cleft palate Abnormal vertebral morphology Cataract Hypoplasia of the radius Sinus bradycardia Triphalangeal thumb Abnormality of cardiovascular system physiology Fatigue Respiratory distress Abnormality of the carpal bones Aplasia of the pectoralis major muscle Diarrhea Vomiting Abnormality of the cerebral white matter Depressed nasal bridge Dysphagia Recurrent infections Absent thumb Failure to thrive Aortic regurgitation Behavioral abnormality Mitral valve prolapse Myopathy Micrognathia Partial duplication of thumb phalanx Abnormality of the cardiovascular system Wide nasal bridge Down-sloping shoulders Thoracic scoliosis Narrow chest Heat intolerance Impotence Angina pectoris Peripheral arterial stenosis Supraventricular tachycardia Oligospermia Clubbing of fingers Loss of consciousness Reduced ejection fraction Large earlobe Emphysema Restrictive cardiomyopathy Abnormality of femur morphology Coronary artery atherosclerosis Wheezing Abnormality of the gastrointestinal tract Tubular atrophy Elevated serum creatinine Tubulointerstitial nephritis Renal tubular dysfunction Transient ischemic attack Xerostomia Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Chronic fatigue Renal tubular acidosis Elevated erythrocyte sedimentation rate Achalasia Glycosuria Abnormal heart valve morphology Abnormality of the nose Glomerulopathy Chronic obstructive pulmonary disease Telangiectasia of the skin Anhidrosis Celiac disease Orthostatic hypotension Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Edema of the lower limbs Purpura Polyuria Thick vermilion border Paresthesia Vertigo Stage 5 chronic kidney disease Tachycardia Bulbous nose Thick eyebrow Hematuria Nausea and vomiting Nephropathy Muscle cramps Abdominal distention Chest pain Urinary incontinence Hypotension Delayed puberty Malabsorption Ventricular hypertrophy Abnormality of the nervous system Arthralgia Coarse facial features Myalgia Carcinoma Arthritis Proteinuria Developmental regression Pruritus Skin rash Stroke Cough Prominent nasal bridge Corneal opacity Papule Nephrotic syndrome Thick lower lip vermilion Diabetes insipidus Hemiplegia Reduced bone mineral density Tinnitus Easy fatigability Chronic kidney disease Prominent supraorbital ridges Abnormality of the hand Glomerulosclerosis Corneal dystrophy Polydipsia Personality changes Heart murmur Clubbing Impaired vibratory sensation Tricuspid regurgitation Ischemic stroke Progressive hearing impairment Myocardial infarction Hypohidrosis Palpitations Mitral regurgitation Abnormal lung morphology Subcutaneous nodule Left ventricular hypertrophy Anorexia Lymphedema Abnormal intestine morphology Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Exercise intolerance Aminoaciduria Hyperlipidemia Abnormal myocardium morphology Impaired temperature sensation High-frequency hearing impairment Abnormality of the pinna Cerebellar vermis hypoplasia Brain atrophy Generalized muscle weakness Abnormal cerebellum morphology Retinal detachment Polymicrogyria Pulmonic stenosis Congenital cataract Hypermetropia Arthrogryposis multiplex congenita Dolichocephaly Dilated cardiomyopathy Muscular dystrophy Neonatal hypotonia Pachygyria Rigidity EEG abnormality Glaucoma Cerebellar hypoplasia Elevated serum creatine phosphokinase Areflexia Microphthalmia Gait disturbance Skeletal muscle atrophy Motor delay Visual impairment Muscle weakness Sick sinus syndrome Encephalocele Preauricular skin tag Hypsarrhythmia Weak cry Cephalocele Thoracic hemivertebrae Hypoglycosylation of alpha-dystroglycan Agyria Cerebellar cyst Exaggerated startle response Type II lissencephaly Cerebellar dysplasia Buphthalmos Retinal dysplasia Ankle contracture Anencephaly Atrophy/Degeneration affecting the brainstem Transposition of the great arteries Congenital hip dislocation Spinal rigidity Cortical dysplasia Generalized amyotrophy Calf muscle hypertrophy Increased variability in muscle fiber diameter Skeletal muscle hypertrophy Mask-like facies Congenital muscular dystrophy Aplasia/Hypoplasia of the corpus callosum Lissencephaly Holoprosencephaly Knee flexion contracture Hemivertebrae EMG abnormality Abnormal electroretinogram Retinal degeneration Asymmetric septal hypertrophy Conjunctival telangiectasia Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased female libido Abnormal endocardium morphology Primary hypothyroidism Microalbuminuria Supraventricular arrhythmia Reduced sperm motility Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Abnormal aortic valve morphology Gastrointestinal dysmotility Periorbital fullness Abnormal mitral valve morphology Increased blood urea nitrogen Angiokeratoma Absent speech Hyperkeratotic papule Nystagmus Cornea verticillata 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 Obstructive lung disease 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 Shortened QT interval Hyposthenuria Dyspnea Mandibular prognathia Heterotopia Hyperkeratosis Short palm Short middle phalanx of finger Tracheoesophageal fistula Radial deviation of finger Cone-shaped epiphysis Increased intracranial pressure Hypopigmented skin patches Acanthosis nigricans Epidermal acanthosis Bilateral sensorineural hearing impairment Febrile seizures Dental malocclusion Hypopigmentation of the skin Craniosynostosis Hypermelanotic macule Malar flattening Anteverted nares Downslanted palpebral fissures Brachydactyly Hyperreflexia Ptosis Abnormal direction of ventricular apex Atrioventricular dissociation Abnormality of dental color Frontal balding Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Broad hallux Tarsal synostosis Amelogenesis imperfecta Capitate-hamate fusion Coarctation of aorta Gastrointestinal hemorrhage Asthma Bruising susceptibility Hepatosplenomegaly Polydactyly Thrombocytopenia Thimble-shaped middle phalanges of hand Low-frequency sensorineural hearing impairment Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Synostosis of carpals/tarsals Hypopigmentation of hair Hemimegalencephaly Craniofacial asymmetry Parietal foramina Lambdoidal craniosynostosis Abnormality of the head Anterior plagiocephaly Oxycephaly Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Esophageal atresia Hypothermia Protruding tongue Short thumb Abnormality of the wrist Abnormal facial shape Abnormality of the forearm Abnormality of the thenar eminence Hypoplastic heart Abnormal aortic arch morphology Abnormality of the radius First degree atrioventricular block Abnormal aortic morphology Abnormality of the humerus Paroxysmal atrial fibrillation Abnormality of the thumb Abnormality of the upper limb Abnormality of the clavicle Immunodeficiency Sprengel anomaly Aplasia/Hypoplasia of the radius Aplasia/Hypoplasia of the thumb Abnormality of the sternum Radioulnar synostosis Abnormality of the metacarpal bones Broad thumb Split hand Abnormality of the ribs Finger syndactyly Joint stiffness Kyphosis Abnormal T-wave Abnormality of the dentition Encephalopathy Cutaneous finger syndactyly Abnormality of the face Bronchitis Mixed hearing impairment 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Optic nerve hypoplasia Cutaneous syndactyly Abnormality of dental enamel Hypocalcemia Cardiac arrest Sinusitis Hypoplasia of dental enamel Pulmonary arterial hypertension Pneumonia Cardiomegaly Tetralogy of Fallot Microdontia Esotropia Round face Hypoplasia of the maxilla Coma Joint hypermobility Toe syndactyly Carious teeth Hypoglycemia Thin upper lip vermilion Autism Epistaxis Aortic valve stenosis Abdominal pain Hemangioma Prominent metopic ridge Ulnar deviation of finger Dislocated radial head Biparietal narrowing Broad palm Short thorax Supernumerary nipple Overlapping toe Nephroblastoma Elbow dislocation CNS hypomyelination Sleep apnea Sacral dimple Nevus flammeus Joint dislocation Narrow palate Elbow flexion contracture Short toe Decreased body weight Hypertrichosis Interphalangeal joint contracture of finger Intellectual disability, profound High myopia Congenital diaphragmatic hernia Narrow forehead Dandy-Walker malformation Convex nasal ridge Underdeveloped supraorbital ridges Severe intrauterine growth retardation Intestinal malrotation Nevus flammeus of the forehead Hyperhidrosis Headache Renal insufficiency Congestive heart failure Edema Cardiomyopathy Fever Peripheral neuropathy Pain Delayed peripheral myelination Hyperechogenic pancreas Facial capillary hemangioma Mesomelic/rhizomelic limb shortening Severe failure to thrive Facial hemangioma Ulnar deviation of the wrist Accessory oral frenulum Atrophy of the spinal cord Deep plantar creases Broad alveolar ridges Abnormal anterior chamber morphology Thick hair Deep palmar crease Abnormality of the pancreas Abnormality of the optic nerve Capillary hemangioma Thoracolumbar scoliosis Wide intermamillary distance Limitation of joint mobility Horseshoe kidney Secundum atrial septal defect Patellar subluxation Lactose intolerance Tibial torsion Mesoaxial polydactyly Short digit Aplasia of the ulna Small thenar eminence Hematemesis Total anomalous pulmonary venous return Complete atrioventricular canal defect Ecchymosis Allergy Truncus arteriosus Microcephaly Heart block Short clavicles Absent radius Oligodactyly Short humerus Limited elbow extension Petechiae Right bundle branch block Menorrhagia Hypoplasia of the ulna Bowing of the legs Eosinophilia Finger clinodactyly Quadricuspid aortic valve Growth delay Vesicoureteral reflux Camptodactyly Nevus Full cheeks Tapered finger Everted lower lip vermilion Hirsutism Long face Oral cleft Cleft upper lip Talipes Synophrys Platyspondyly Severe global developmental delay Retinopathy Cleft lip Neoplasm Muscular hypotonia of the trunk Retrognathia Polyhydramnios Cerebral cortical atrophy Upslanted palpebral fissure Inguinal hernia Hernia Long philtrum Short neck Talipes equinovarus Hepatomegaly Feeding difficulties Cryptorchidism Hypoplasia of the pyramidal tract



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Talipes equinovarus, related diseases and genetic alterations

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