Congestive heart failure, and Encephalopathy

Diseases related with Congestive heart failure and Encephalopathy

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


Top matches:

Low match COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22


Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 22; COXPD22

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 ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD


Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).

ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

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Other less relevant matches:

Low match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Low match PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Low match SYSTEMIC PRIMARY CARNITINE DEFICIENCY


Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

Low match ACYL-COA DEHYDROGENASE 9 DEFICIENCY


Acyl-CoA dehydrogenase 9 (ACAD9) deficiency is a rare disorder leading to a deficiency of complex I of the respiratory chain and is characterized by neurological dysfunction, hepatic failure and cardiomyopathy.

ACYL-COA DEHYDROGENASE 9 DEFICIENCY Is also known as acyl-coa dehydrogenase 9 deficiency|acad9 deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ACYL-COA DEHYDROGENASE 9 DEFICIENCY

Low match ADAMS-OLIVER SYNDROME 5; AOS5


Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Low match TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1


Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. Genetic Heterogeneity of Hereditary Hemorrhagic TelangiectasiaSee also HHT2 (OMIM ), caused by mutation in the ALK1 gene (ACVRL1 ) on chromosome 12q13; HHT3 (OMIM ), mapped to chromosome 5q31; HHT4 (OMIM ), mapped to chromosome 7p14; and HHT5 (OMIM ), caused by mutation in the GDF2 gene (OMIM ) on chromosome 10q11.See also juvenile polyposis/HHT syndrome (OMIM ), caused by mutation in the SMAD4 gene (OMIM ).

TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1 Is also known as telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber|orw disease|hht|osler-rendu-weber disease

Related symptoms:

  • Seizures
  • Anemia
  • Hypertension
  • Congestive heart failure
  • Headache


SOURCES: OMIM MENDELIAN

More info about TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1; HHT1

Low match 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D


3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D Is also known as 3-methylcrotonylglycinuria ii|mcc2 deficiency|methylcrotonylglycinuria, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about 3-METHYLCROTONYL-COA CARBOXYLASE 2 DEFICIENCY; MCC2D

Top 5 symptoms//phenotypes associated to Congestive heart failure and Encephalopathy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Hyperammonemia Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypoglycemia

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Acidosis Myopathy Hypertrophic cardiomyopathy Metabolic acidosis Increased serum lactate Hepatomegaly Global developmental delay Cardiomyopathy Hepatic steatosis Hypertension Decreased plasma carnitine Dilated cardiomyopathy Vomiting Exercise intolerance Ventricular hypertrophy Elevated hepatic transaminase Coma Stroke Ascites Cardiomegaly Arrhythmia Ketonuria Hyperalaninemia Lactic acidosis Feeding difficulties Myalgia Lethargy Intellectual disability Fatigue Motor delay

Rare Symptoms - Less than 30% cases


Necrotizing encephalopathy Pericardial effusion Sudden cardiac death Decreased liver function Esophageal varix Tachypnea Growth delay Infantile muscular hypotonia Bradycardia Left ventricular hypertrophy Hypoketotic hypoglycemia Dilatation Dicarboxylic aciduria Nonketotic hypoglycemia Irritability Hyperactivity Depressivity Macrocephaly Hyperreflexia Intellectual disability, severe Ketoacidosis Dyspnea Ataxia Cyanosis Ischemic stroke Portal hypertension Renal insufficiency Cognitive impairment Hepatic failure Elevated serum creatine phosphokinase Increased serum pyruvate Decreased activity of mitochondrial respiratory chain Severe lactic acidosis Pain Pulmonary arterial hypertension Nausea Atherosclerosis Right atrial enlargement Anemia Headache Cirrhosis Visual loss Telangiectasia Epistaxis Gastrointestinal hemorrhage Abnormality of the liver Hematuria Migraine Abnormal cardiac septum morphology Calcinosis cutis Progressive proximal muscle weakness Severe global developmental delay Abnormality of the cerebral white matter Pulmonic stenosis Hip dysplasia Coarctation of aorta Small nail Patent foramen ovale Cutis marmorata Abnormality of the coagulation cascade Spastic diplegia Aplasia cutis congenita Oligodactyly Right ventricular hypertrophy Chronic hepatic failure Proximal muscle weakness Dystrophic toenail Elevated alkaline phosphatase Calcinosis Attention deficit hyperactivity disorder Right ventricular failure Aplasia cutis congenita of scalp Cavernous hemangioma Hypersplenism Portal vein thrombosis Umbilical hernia Prominent scalp veins Cutis marmorata telangiectatica congenita Prominent superficial veins Pulmonary hemorrhage Clubbing Skeletal muscle atrophy Palate telangiectasia Tongue telangiectasia High-output congestive heart failure Nasal mucosa telangiectasia Visual auras Fingerpad telangiectases Nail bed telangiectasia Venous varicosities of celiac and mesenteric vessels Dilatation of mesenteric artery Gastrointestinal telangiectasia Dilatation of celiac artery Gastrointestinal arteriovenous malformation Ventriculomegaly Hepatic arteriovenous malformation Cerebral atrophy Alopecia Dehydration Progressive neurologic deterioration Opisthotonus Hypoventilation Organic aciduria Seborrheic dermatitis Hyperglycinuria Neutrophilia Encephalomalacia Propionyl-CoA carboxylase deficiency Arteriovenous fistulas of celiac and mesenteric vessels Spinal arteriovenous malformation Cerebral hemorrhage Melena Scleroderma Polycythemia Hemoptysis Subarachnoid hemorrhage Thrombocytosis Abnormality of the vasculature Transient ischemic attack Hematochezia Hypoxemia Migraine with aura Conjunctival telangiectasia Hematemesis Venous malformation Pulmonary arteriovenous malformation Spontaneous, recurrent epistaxis Arteriovenous fistula Focal sensory seizure Polycystic liver disease Abnormal heart morphology Gastrointestinal angiodysplasia Lip telangiectasia Cerebral arteriovenous malformation Hemangiomatosis Coronary artery aneurysm Right-to-left shunt Brain abscess Inguinal hernia Fasting hypoglycemia Hernia Dystonia Drowsiness Myoglobinuria Cardiorespiratory arrest Exercise-induced myalgia Respiratory arrest Exercise-induced myoglobinuria Hepatocellular necrosis Exercise-induced rhabdomyolysis Spasticity Optic atrophy Small for gestational age Muscle stiffness Poor speech Tachycardia Pleural effusion Aspiration pneumonia Wolff-Parkinson-White syndrome Sinus bradycardia Dysarthria Respiratory distress Pneumonia Leukodystrophy Clonus Rhabdomyolysis Cardiac arrest Athetosis Slurred speech Microcephaly Intrauterine growth retardation Sensorineural hearing impairment Peripheral neuropathy Gait disturbance Abnormality of cardiovascular system morphology Mental deterioration Chest pain Febrile seizures EMG abnormality Ragged-red muscle fibers Ophthalmoparesis Muscle cramps Multiple lipomas Progressive sensorineural hearing impairment Progressive external ophthalmoplegia Mild global developmental delay Lower limb pain Increased adipose tissue Atrial septal defect Behavioral abnormality Autism Hepatosplenomegaly Autistic behavior CNS hypomyelination Renal tubular acidosis Syndactyly Prolonged prothrombin time Irregular respiration Decreased carnitine level in liver Edema Thrombocytopenia Patent ductus arteriosus Generalized muscle weakness EMG: myopathic abnormalities Fatigable weakness Acute hepatic failure Generalized edema Cerebral edema Proximal tubulopathy Impaired gluconeogenesis Microvesicular hepatic steatosis Macrovesicular hepatic steatosis Decreased activity of mitochondrial complex I Elevated creatine kinase after exercise Increased lactate dehydrogenase activity Elevated plasma acylcarnitine levels Cerebellar hemorrhage Short stature Brachydactyly Ventricular septal defect Splenomegaly Reduced muscle carnitine level Reye syndrome-like episodes Periventricular leukomalacia Feeding difficulties in infancy Dysgraphia Cystinuria Proximal renal tubular acidosis Increased head circumference Periventricular cysts Chronic metabolic acidosis Congenital lactic acidosis Neuronal loss in the cerebral cortex Fever Recurrent respiratory infections Abdominal pain Respiratory tract infection Acute encephalopathy Confusion Clumsiness Delayed gross motor development Easy fatigability Decreased muscle mass Neck muscle weakness Excessive daytime somnolence Recurrent hypoglycemia Skeletal myopathy Endocardial fibroelastosis Generalized tonic-clonic seizures with focal onset Acute hyperammonemia



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