Cardiomyopathy, and Pulmonary arterial hypertension

Diseases related with Cardiomyopathy and Pulmonary arterial hypertension

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Pulmonary arterial hypertension that can help you solving undiagnosed cases.


Top matches:

Medium match CARDIOMYOPATHY, DILATED, 1R; CMD1R


Related symptoms:

  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure
  • Hypertrophic cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1R; CMD1R

Medium match LEFT VENTRICULAR NONCOMPACTION 8; LVNC8


Related symptoms:

  • Hypertension
  • Ventriculomegaly
  • Congestive heart failure
  • Arrhythmia
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION 8; LVNC8

Medium match ATRIAL SEPTAL DEFECT 4; ASD4


Related symptoms:

  • Hypertension
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 4; ASD4

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Other less relevant matches:

Medium match CARDIOMYOPATHY, DILATED, 1S; CMD1S


Related symptoms:

  • Muscle weakness
  • Ventriculomegaly
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1S; CMD1S

Medium match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Medium match CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME


Congenital cataract - hypertrophic cardiomyopathy - mitochrondrial myopathy (CCM) is a mitochondrial disease (see this term) characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.

CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME Is also known as mtdps10|sengers syndrome|cardiomyopathy and cataract|mitochondrial dna depletion syndrome 10 (cardiomyopathic type)

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-HYPERTROPHIC CARDIOMYOPATHY-MITOCHONDRIAL MYOPATHY SYNDROME

Medium match CONGENITAL MUSCULAR DYSTROPHY TYPE 1A


Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neuromuscular disorders with onset at birth or infancy characterized by hypotonia, muscle weakness and muscle wasting.

CONGENITAL MUSCULAR DYSTROPHY TYPE 1A Is also known as muscular dystrophy, congenital merosin-deficient|cmd1a|merosin-negative congenital muscular dystrophy|mdc1a|congenital muscular dystrophy due to laminin alpha2 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY TYPE 1A

Medium match BETA-THALASSEMIA MAJOR


Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

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 TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Pulmonary arterial hypertension

Symptoms // Phenotype % cases
Congestive heart failure Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Hypertension Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Pulmonary arterial hypertension. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Arrhythmia Muscular hypotonia Generalized hypotonia Dilated cardiomyopathy Ventricular arrhythmia Intellectual disability Myopathy Cataract Dilatation Ventricular septal defect Ventriculomegaly Respiratory insufficiency Left ventricular noncompaction

Rare Symptoms - Less than 30% cases


Cerebellar hypoplasia Fever Arthralgia Anemia Low-set ears Respiratory distress Dyspnea Fatigue Wide nasal bridge Hip dislocation Myopia Motor delay Abnormal facial shape Skin ulcer Inferior vermis hypoplasia Failure to thrive Growth delay Intellectual disability, moderate Neonatal hypotonia Gastroesophageal reflux Abnormal aortic valve morphology Respiratory failure Cognitive impairment Flexion contracture Acidosis Global developmental delay Coarctation of aorta Cardiorespiratory arrest Atrioventricular block Encephalopathy Atrial fibrillation Abnormal left ventricle morphology Left ventricular noncompaction cardiomyopathy Abnormal heart morphology Cardiac arrest Feeding difficulties in infancy Patent foramen ovale 3-Methylglutaconic aciduria Esotropia Aciduria Stroke Protruding tongue Depressed nasal bridge Hepatomegaly Abnormality of the dentition Depressivity Increased serum lactate Dysphagia Lactic acidosis Syncope Hypothyroidism Atrial septal defect ST segment depression Pneumonia Constipation Syndactyly Patent ductus arteriosus Hypertelorism Abnormality of cardiovascular system morphology Behavioral abnormality Immunodeficiency Recurrent infections Neutropenia Malar prominence Feeding difficulties Elevated hepatic transaminase Jaundice Skeletal dysplasia Diabetes mellitus Upslanted palpebral fissure Osteoporosis Visual impairment Hearing impairment Pallor Highly elevated creatine phosphokinase Absent muscle fiber merosin Abnormal brainstem MRI signal intensity Intercostal muscle weakness Abnormality of the temporomandibular joint Hypointensity of cerebral white matter on MRI Increased endomysial connective tissue Anxiety Nyctalopia Monochromacy Microcytic anemia Hypersplenism Abnormal hemoglobin Abnormality of the hypothalamus-pituitary axis Neoplasm of the liver Abnormality of the skull Increased serum ferritin Hypoparathyroidism Adrenal insufficiency Malabsorption Abnormality of the thorax Cholelithiasis Venous thrombosis Autism Cirrhosis Paresthesia Genu valgum Delayed puberty Prominent forehead Sinusitis Thin upper lip vermilion Cerebellar atrophy Umbilical hernia Retrognathia Cerebral cortical atrophy Inguinal hernia Hypospadias Long philtrum Anteverted nares Wide mouth Tremor Intrauterine growth retardation Cryptorchidism Ataxia Microcephaly Abnormal direction of ventricular apex Atrioventricular dissociation Abnormality of the kidney Camptodactyly of finger Abnormality of dental color Aplasia/Hypoplasia of the corpus callosum Gastroparesis Hyperalaninemia Moderate global developmental delay Flat occiput Encephalitis Hyperammonemia Leukoencephalopathy Short philtrum Microretrognathia Intention tremor Interphalangeal joint contracture of finger Oligohydramnios Premature birth Flat face Small for gestational age T-wave alternans Frontal balding Hypoglycemia Round face Pontocerebellar atrophy Hypoplasia of dental enamel Abnormality of the face Cardiomegaly Tetralogy of Fallot Microdontia Sudden cardiac death Hypocalcemia Hypoplasia of the maxilla Coma Joint hypermobility Toe syndactyly Carious teeth Abnormal cardiac septum morphology Autistic behavior Bradycardia Abnormality of dental enamel Biventricular hypertrophy Bronchitis Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Hypothermia Amelogenesis imperfecta Cutaneous finger syndactyly Mixed hearing impairment Ventricular tachycardia Prolonged QT interval Multiple joint contractures 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Optic nerve hypoplasia Cutaneous syndactyly Impaired mastication Open mouth Diffuse white matter abnormalities Abnormal endocardium morphology Subcutaneous nodule Anorexia Vasculitis Aortic regurgitation Psoriasiform dermatitis Abnormal heart valve morphology Hemoptysis Gangrene Cerebral ischemia Reduced consciousness/confusion Inflammatory abnormality of the eye Abnormal pattern of respiration Arterial stenosis Ascending tubular aorta aneurysm Amaurosis fugax Migraine Gastrointestinal infarctions Arteritis Hypertensive crisis Increased inflammatory response Nystagmus Strabismus Headache Thrombocytopenia Glaucoma Osteopenia Mental deterioration Congenital cataract Generalized muscle weakness Hemiparesis Myocardial infarction Chest pain Corneal dystrophy Tricuspid regurgitation Left ventricular hypertrophy Myocarditis Restrictive cardiomyopathy Mitral regurgitation Myocardial fibrosis Left ventricular failure Mitral valve prolapse Mitral stenosis Endocardial fibroelastosis Proximal muscle weakness Pulmonic stenosis Ventricular hypertrophy Shock Bicuspid aortic valve Coronary artery atherosclerosis Neurological speech impairment Pulmonary artery hypoplasia Retinopathy Arthritis Myalgia Weight loss Hyperhidrosis Ebstein anomaly of the tricuspid valve Aortic arch aneurysm Pulmonary embolism Cardiogenic shock Reduced systolic function First degree atrioventricular block T-wave inversion Left bundle branch block Pulmonary artery stenosis Exercise intolerance Tachypnea Muscle fiber atrophy Focal impaired awareness seizure Macroglossia Focal-onset seizure Bradykinesia Pachygyria Heterotopia Decreased body weight Progressive muscle weakness Sensorimotor neuropathy Aspiration Congenital hip dislocation Absence seizures Lissencephaly Respiratory insufficiency due to muscle weakness Poor suck Limb-girdle muscular dystrophy Polymicrogyria Myositis Increased connective tissue Cerebral edema Astrocytosis Atelectasis Reduced ejection fraction Abnormal cortical gyration Recurrent lower respiratory tract infections Congenital muscular dystrophy Abnormality of visual evoked potentials Hypoventilation Abnormality of the periventricular white matter Weak cry Hypokinesia Myopathic facies Inability to walk Ophthalmoplegia Ragged-red muscle fibers Fatty replacement of skeletal muscle Eosinophilia Easy fatigability Recurrent upper respiratory tract infections Abnormal electroretinogram Premature ovarian insufficiency Abnormality of mitochondrial metabolism Hypoplasia of the brainstem Mitochondrial myopathy Meningocele Right ventricular hypertrophy Organic aciduria Skeletal myopathy Abnormal myelination Decreased activity of mitochondrial respiratory chain Infantile axial hypotonia Abnormality of the cerebral white matter Areflexia Muscular dystrophy Paralysis Hyperlordosis Facial palsy Kyphoscoliosis Elevated serum creatine phosphokinase Abnormality of metabolism/homeostasis Exercise-induced lactic acidemia Intellectual disability, severe Gait disturbance Skeletal muscle atrophy Scoliosis Depletion of mitochondrial DNA in muscle tissue Abnormal muscle fiber protein expression Abnormal pulmonary valve morphology



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