Congestive heart failure, and Aortic valve stenosis

Diseases related with Congestive heart failure and Aortic valve stenosis

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Aortic valve stenosis that can help you solving undiagnosed cases.


Top matches:

Medium match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2


Related symptoms:

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Congestive heart failure
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2

Medium match X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME


X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

Medium match LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME


LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.

LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME Is also known as lcps

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Sparse hair
  • Ventricular hypertrophy


SOURCES: ORPHANET MENDELIAN

More info about LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME

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Other less relevant matches:

Medium match GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME


Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Medium match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1


A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Medium match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Medium match GELEOPHYSIC DYSPLASIA


Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA

Medium match SINGLETON-MERTEN DYSPLASIA


Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).

SINGLETON-MERTEN DYSPLASIA Is also known as singleton-merten syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about SINGLETON-MERTEN DYSPLASIA

Medium match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

Medium match MEND SYNDROME


MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.

MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MEND SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Aortic valve stenosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Cardiomegaly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Aortic valve stenosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Mitral regurgitation Cryptorchidism Ventricular hypertrophy Cardiomyopathy Pulmonic stenosis Hypospadias Hearing impairment Generalized hypotonia Ptosis Dilatation Pectus excavatum Low-set ears Arrhythmia Respiratory insufficiency Aortic regurgitation Smooth philtrum Abnormal heart morphology Flexion contracture Mitral valve calcification Subvalvular aortic stenosis Hepatomegaly Growth delay Hydrocephalus

Rare Symptoms - Less than 30% cases


Decreased body weight Strabismus Muscular hypotonia Micrognathia Failure to thrive Microcephaly Respiratory distress Hypertonia Pes cavus Aortic arch calcification Hepatosplenomegaly Aortic valve calcification Abnormal aortic valve morphology Abnormal mitral valve morphology Mitral stenosis Ventricular septal defect Abnormality of cardiovascular system morphology Osteoporosis Thin upper lip vermilion Osteopenia Talipes equinovarus Hypertelorism Heart block Overgrowth Full cheeks Hip dislocation Joint laxity Recurrent respiratory infections Hypertrophic cardiomyopathy Scoliosis Anemia Abnormal facial shape Sensorineural hearing impairment Abnormality of the skeletal system Oligohydramnios Posteriorly rotated ears Prominent nasal bridge Wide mouth Cleft palate Coxa valga Bicuspid aortic valve Kyphoscoliosis Aortic aneurysm Spasticity Prematurely aged appearance Premature skin wrinkling Atrial fibrillation Abnormality of the pulmonary artery Exertional dyspnea Emphysema Dentinogenesis imperfecta limited to primary teeth Unerupted tooth Midface retrusion Overlapping fingers Hip subluxation Shallow acetabular fossae Muscle fiber atrophy Onycholysis Osteolytic defects of the phalanges of the hand High anterior hairline Periodontitis Premature loss of permanent teeth Hypoplasia of the tooth germ Tendon rupture Ectopic kidney Microretrognathia Sacral dimple Overfolded helix Self-injurious behavior 2-3 toe syndactyly Neoplasm Overlapping toe Broad hallux Epiphora Long fingers Expanded phalanges with widened medullary cavities Expanded metacarpals with widened medullary cavities Hypoplastic distal radial epiphyses Epiphyseal stippling Narrow nose Expanded metatarsals with widened medullary cavities Otosclerosis Osteolysis Psoriasiform dermatitis Hypoplastic aortic arch J-shaped sella turcica Tip-toe gait Spotty hypopigmentation Wrist flexion contracture Hypoplasia of the capital femoral epiphysis Thickened helices Lack of skin elasticity Irregular capital femoral epiphysis Ovoid vertebral bodies Dysostosis multiplex Tracheal stenosis Right ventricular hypertrophy High pitched voice Bilateral talipes equinovarus Toe walking Tricuspid stenosis Short metacarpals with rounded proximal ends Scaling skin Carious teeth Pain Cutaneous photosensitivity Waddling gait Generalized muscle weakness Hypoplasia of the maxilla Genu valgum Broad forehead Muscle weakness Glaucoma Visual loss Recurrent infections Abnormality of the dentition Skeletal muscle atrophy Myopia Long neck Narrow palpebral fissure Fatigue Delayed speech and language development Severe hearing impairment Hyposmia Skeletal dysplasia Angina pectoris Missing ribs Multiple cafe-au-lait spots Deeply set eye Bundle branch block Multiple lentigines Aggressive behavior Bilateral cryptorchidism Unilateral renal agenesis Cubitus valgus Pterygium Mutism Spina bifida occulta Limited elbow movement Parietal bossing Cafe-au-lait spot Polyhydramnios Hyperactivity Polydactyly Syndactyly Hypoplasia of the corpus callosum Cerebral cortical atrophy Ventriculomegaly Brachydactyly Delayed menarche High palate Cataract Aplasia of the ovary Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Scapular winging Abnormality of the genital system Epicanthus Wide intermamillary distance Mandibular prognathia Single transverse palmar crease Micropenis Hypopigmentation of the skin Esotropia Hyperkeratosis Alopecia Neonatal hypotonia Depressivity Dandy-Walker malformation Kyphosis Intellectual disability, mild Short neck Narrow forehead Agenesis of corpus callosum Thick vermilion border Conductive hearing impairment Depressed nasal ridge Low-set, posteriorly rotated ears Cone-shaped epiphysis Webbed neck Syncope Chest pain Muscular hypotonia of the trunk Triangular face Delayed puberty Wide nose Abnormal cardiac septum morphology Toe syndactyly Ichthyosis Long face Pectus carinatum Protruding ear Bulbous nose Myocardial infarction Atelectasis Short long bone Generalized tonic-clonic seizures Oculomotor apraxia Opacification of the corneal stroma Horizontal nystagmus Pancytopenia Dry skin Ophthalmoplegia Corneal opacity Heart murmur Pallor Brachycephaly Hyporeflexia Splenomegaly Abnormality of the intrahepatic bile duct Aortic atherosclerosis Pulmonary carcinoid tumor Cachexia Abnormal heart valve morphology Coronary artery stenosis Spontaneous, recurrent epistaxis Abnormality of toe Decreased beta-glucocerebrosidase protein and activity Bacterial endocarditis Calcification of the aorta Elevated serum acid phosphatase Abnormal aortic arch morphology Supranuclear ophthalmoplegia Abnormal EKG Corneal crystals Abnormal saccadic eye movements Reticular hyperpigmentation Abnormal aortic morphology Foam cells Supranuclear gaze palsy Communicating hydrocephalus Loss of eyelashes Papillary renal cell carcinoma Slowed horizontal saccades Spastic tetraplegia Venous insufficiency Atrial flutter Abnormality of the thumb Macroorchidism Multiple joint contractures Intellectual disability, profound Tetraplegia Sclerotic vertebral endplates Macrotia Absent speech Myxomatous mitral valve degeneration Pulmonary artery atresia Hydrops fetalis Tetralogy of Fallot Atrial septal defect Contractures of the large joints Sparse hair Squamous cell carcinoma of the skin Basal cell carcinoma Alopecia universalis Absent eyelashes Aortic root aneurysm Scleroderma Lipoatrophy Reduced subcutaneous adipose tissue Aplasia/Hypoplasia of the eyebrow Hypertriglyceridemia Premature graying of hair Coronary artery atherosclerosis Absent eyebrow Intracranial hemorrhage Hypercholesterolemia Atherosclerosis Sparse scalp hair Cardiac valve calcification Hypometric horizontal saccades Joint contracture of the hand Ileus Supravalvular aortic stenosis Congenital hemolytic anemia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Arterial stenosis Bladder diverticulum Bowel diverticulosis Cor pulmonale Edema Pulmonary artery stenosis Shawl scrotum Progressive sensorineural hearing impairment Delayed cranial suture closure Epiphyseal dysplasia Arterial fibromuscular dysplasia Renal diverticulum Shock Short palm Thickened skin Small nail Limb undergrowth Round face Short foot Small hand Talipes Anteverted nares Camptodactyly of finger Joint stiffness Upslanted palpebral fissure Severe short stature Delayed skeletal maturation Long philtrum Short nose Redundant skin Cutis laxa Abnormal common carotid artery morphology Lactic acidosis Spontaneous abortion Cardiac arrest Renal hypoplasia Aciduria Increased serum lactate Metabolic acidosis Short philtrum Hyperammonemia Camptodactyly Retrognathia Acidosis Frontal bossing Feeding difficulties Ataxia Cardiovascular calcification Severe muscular hypotonia Rocker bottom foot Wormian bones Arachnodactyly Abnormality of the face Recurrent urinary tract infections Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Vesicoureteral reflux Recurrent fractures Hemolytic anemia Joint hyperflexibility Severe failure to thrive Umbilical hernia Arthralgia Hypothyroidism Inguinal hernia Hernia 3-Methylglutaconic aciduria Severe lactic acidosis Olivopontocerebellar hypoplasia



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