Cardiomyopathy, and Encephalopathy

Diseases related with Cardiomyopathy and Encephalopathy

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


Top matches:

Low match SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY


Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease|pap, reunion island type|pulmonary alveolar proteinosis, reunion island type|hereditary pulmonary alveolar proteinosis with hepatic involvement

Related symptoms:

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

Low match 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as hadh deficiency|schad deficiency, formerly

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Cardiomyopathy
  • Encephalopathy
  • Hypoglycemia


SOURCES: MESH OMIM MENDELIAN

More info about 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Low match ITPA-RELATED ENCEPHALOPATHY


Early infantile epileptic encephalopathy-35 is an autosomal recessive neurodegenerative disorder characterized by onset of seizures in the first months of life associated with essentially no normal development. Brain imaging shows a characteristic pattern consistent with lack of myelination of early structures, including the posterior limb of the internal capsule, brainstem tracts, and tracts to the primary visual and motor cortices. Many patients die in early childhood (summary by Kevelam et al., 2015)For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see {308350}.

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ITPA-RELATED ENCEPHALOPATHY

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Other less relevant matches:

Low match FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY


Fatal infantile cytochrome C oxidase deficiency is a very rare mitochondrial disease characterized clinically by cardioencephalomyopathy resulting in death in infancy.

FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY Is also known as fatal infantile cox deficiency|fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency|cytochrome c oxidase deficiency, fatal infantile, with cardioencephalomyopathy

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about FATAL INFANTILE CYTOCHROME C OXIDASE DEFICIENCY

Low match CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM


The severe infantile form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the early-onset form of the disease.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM Is also known as cpt2, severe infantile form|cptii, severe infantile form|carnitine palmitoyltransferase ii deficiency with hypoketotic hypoglycemia|carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form|cpt2, hepatocardiomuscular form|cptii, hepatoc

Related symptoms:

  • Seizures
  • Hepatomegaly
  • Fever
  • Respiratory distress
  • Cardiomyopathy


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, SEVERE INFANTILE FORM

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33


COXPD33 is an autosomal recessive multisystem disorder resulting from a defect in mitochondrial energy metabolism. The phenotype is highly variable, ranging from death in infancy to adult-onset progressive external ophthalmoplegia (PEO) and myopathy. A common finding is cardiomyopathy and increased serum lactate (summary by Feichtinger et al., 2017).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Ptosis
  • Peripheral neuropathy
  • Hepatomegaly
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33; COXPD33

Low match NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME


Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Low match MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS


Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

Low match VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY


Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency (VLCADD) is an inherited disorder of mitochondrial long-chain fatty acid oxidation with a variable presentation including: cardiomyopathy, hypoketotic hypoglycemia, liver disease, exercise intolerance and rhabdomyolysis.

VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY Is also known as vlcadd|vlcad deficiency

Related symptoms:

  • Muscle weakness
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about VERY LONG CHAIN ACYL-COA DEHYDROGENASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Encephalopathy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Acidosis Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Respiratory distress Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Encephalopathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Increased serum lactate Cardiomegaly Hepatic steatosis Hepatic failure Dicarboxylic aciduria Elevated serum creatine phosphokinase Hypoglycemia Hepatomegaly Muscle weakness Myopathy Hypoketotic hypoglycemia Lactic acidosis Elevated hepatic transaminase Dilated cardiomyopathy Feeding difficulties Lethargy Vomiting

Rare Symptoms - Less than 30% cases


Gliosis Progressive external ophthalmoplegia Respiratory insufficiency Neuronal loss in central nervous system Peripheral neuropathy Ragged-red muscle fibers Myalgia Arrhythmia Epileptic encephalopathy Metabolic acidosis Ventricular hypertrophy Fatigue Mental deterioration Muscular hypotonia Exercise intolerance Aciduria Intrauterine growth retardation Myoglobinuria Hepatic encephalopathy Feeding difficulties in infancy Global developmental delay Microcephaly Hyperammonemia Hypoglycemic encephalopathy Irritability Patent ductus arteriosus Ataxia Decreased activity of mitochondrial respiratory chain External ophthalmoplegia Astrocytosis Motor deterioration Hepatocellular necrosis Hypoplastic left heart Neonatal respiratory distress Abnormality of mitochondrial metabolism Bradycardia Polyneuropathy Decreased plasma carnitine Neonatal hypotonia EEG abnormality Skeletal myopathy Congenital nephrotic syndrome Cerebellar hypoplasia Scoliosis Dysphagia Exercise-induced myoglobinuria Cerebellar atrophy Rhabdomyolysis Increased adipose tissue Sensorineural hearing impairment Progressive muscle weakness Lower limb pain Mild global developmental delay Progressive sensorineural hearing impairment Multiple lipomas Ophthalmoparesis Diarrhea Nephropathy Amblyopia Sudden cardiac death Dehydration EMG abnormality Febrile seizures Hypertension Chest pain Cardiac arrest Dyspnea Abnormality of cardiovascular system morphology Congestive heart failure Intellectual disability, severe Tachypnea Gait disturbance Infantile muscular hypotonia Increased serum pyruvate Hyperreflexia Slurred speech Depressivity Left ventricular hypertrophy Delayed myelination Breathing dysregulation Increased CSF lactate Stridor Spontaneous abortion Abnormality of the nervous system Nystagmus Limb tremor Delayed CNS myelination High pitched voice Severe muscular hypotonia Status epilepticus Brain atrophy Limited extraocular movements Cerebral atrophy Cataract Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Fulminant hepatic failure Hepatic necrosis Recurrent myoglobinuria Hypoglycemic seizures Growth delay Abnormality of the gastrointestinal tract Acute hepatic failure Abnormality of the coagulation cascade Jaundice Inspiratory stridor Neuronal loss in basal ganglia Nephrotic syndrome Biventricular hypertrophy Oligohydramnios Astigmatism Lower limb muscle weakness Limb muscle weakness Ophthalmoplegia Abnormality of the liver Hypothyroidism Constipation Ptosis Persistent lactic acidosis Abnormal posturing Primitive reflex Basal ganglia gliosis Reduced ejection fraction Central hypotonia Hypoventilation Decreased fetal movement Spasticity Macrovesicular hepatic steatosis Respiratory arrest Loss of consciousness Coma Nausea and vomiting Hyperhidrosis Fever Neonatal sepsis



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