Fever, and Arrhythmia

Diseases related with Fever and Arrhythmia

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

Top matches:

MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5 Is also known as mhs5

Related symptoms:

  • Fever
  • Tachycardia
  • Hypercapnia


SOURCES: OMIM MENDELIAN

More info about MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 5

Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by Antzelevitch et al., 2005). Genetic Heterogeneity of Brugada SyndromeBrugada syndrome-2 (OMIM ) is caused by mutation in the GPD1L gene (OMIM ) on chromosome 3p22. Brugada syndrome-3 (OMIM ) and Brugada syndrome-4 (OMIM ), the phenotypes of which include a shortened QT interval on ECG, are caused by mutation in the CACNA1C gene (OMIM ) on chromosome 12p13 and CACNB2 gene (OMIM ) on chromosome 10p12, respectively. Brugada syndrome-5 (OMIM ) is caused by mutation in the SCN1B gene (OMIM ) on chromosome 19q13. Brugada syndrome-6 (OMIM ) is caused by mutation in the KCNE3 gene (OMIM ) on chromosome 11q13. Brugada syndrome-7 (OMIM ) is caused by mutation in the SCN3B gene (OMIM ) on chromosome 11q24. Brugada syndrome-8 (OMIM ) is caused by mutation in the HCN4 gene (OMIM ) on chromosome 15q24. Brugada syndrome-9 (OMIM ) is caused by mutation in the KCND3 gene (OMIM ) on chromosome 1p13.Antzelevitch et al. (2007) screened 82 consecutive probands with a clinical diagnosis of Brugada syndrome for mutations in 16 ion channel genes. Seven probands were found to have mutations in the CACNA1C (OMIM ) or CACNB2 (OMIM ) genes, including 3 Brugada probands with shortened QTc intervals (see {611875} and {611876}). Fifteen percent of probands harbored a pathogenic mutation in the SCN5A gene.Delpon et al. (2008) screened 14 ion channel genes in 105 probands with Brugada syndrome and detected SCN5A mutations in 14.3%, CACNA1C mutations in 6.7%, and CACNB2 mutations in 4.8% of the probands.Hu et al. (2009) analyzed 9 'Brugada susceptibility' genes, including SCN5A, GPD1L (OMIM ), CACNB2, CACNA1C, SCN1B (OMIM ), KCNE2 (OMIM ), KCNE3 (OMIM ), KCNE4 (OMIM ), and IRX5 (OMIM ), as well as the sodium channel beta subunit SCN3B (OMIM ), in 179 probands with Brugada syndrome; they noted that 129 (72.07%) of the probands were negative for mutation in all of the genes tested.Crotti et al. (2012) analyzed 12 Brugada syndrome susceptibility genes in 129 unrelated patients with possible or probable Brugada syndrome and identified SCN5A mutations in 21 (16.3%) of the patients; only 6 (4.6%) of the patients carried a mutation in 1 of the other 11 genes.In a cohort of 91 SCN5A-negative Brugada syndrome patients and 91 European controls from the 1000 Genomes Project database, Di Resta et al. (2015) analyzed 158 arrhythmia- and cardiac defect-associated genes. A significant enrichment in Brugada syndrome samples was found only for the DSG2 gene (OMIM ), with 6 (6%) of 91 patients having a rare functional variant compared to none of the 91 controls (p = 0.029). In addition, borderline significance was detected for the MYH7 gene (OMIM ) (5 patients versus 0 controls; p = 0.059). Analysis of phenotype correlations yielded statistical significance only between the presence of a DSG2 variant and syncope, documented ventricular tachycardia/fibrillation, and/or cardiac arrest (p = 0.034). Di Resta et al. (2015) noted the possible genetic overlap between different cardiac disorders, suggesting common pathogenetic pathways.

BRUGADA SYNDROME 1; BRGDA1 Is also known as right bundle branch block, st segment elevation, and sudden death syndrome|sudden unexplained nocturnal death syndrome|sunds

Related symptoms:

  • Fever
  • Respiratory distress
  • Arrhythmia
  • Abnormal heart morphology
  • Tachycardia


SOURCES: OMIM MENDELIAN

More info about BRUGADA SYNDROME 1; BRGDA1

Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. Basso et al. (2009) provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics. Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular DysplasiaOther forms of ARVD include ARVD2 (OMIM ), caused by mutation in the RYR2 gene (OMIM ) on chromosome 1q42-q43; ARVD3 (OMIM ), on chromosome 14q12-q22; ARVD4 (OMIM ), on chromosome 2q32.1-q32.3; ARVD5 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ) on chromosome 3p23; ARVD6 (OMIM ), on chromosome 10p14-p12; ARVD8 (OMIM ), caused by mutation in the DSP gene (OMIM ) on chromosome 6p24; ARVD9 (OMIM ), caused by mutation in the PKP2 gene (OMIM ) on chromosome 12p11; ARVD10 (OMIM ), caused by mutation in the DSG2 (OMIM ) on chromosome 18q12.1; ARVD11 (OMIM ), caused by mutation in the DSC2 gene (OMIM ) on chromosome 18q12.1; ARVD12 (OMIM ), caused by mutation in the JUP gene (OMIM ) on chromosome 17q21; and ARVD13 (OMIM ), caused by mutation in the CTNNA3 gene (OMIM ) on chromosome 10q21.ARVD7 is a former designation for a form of myopathy and ARVD mapped to chromosome 10q22, which was later found to be a form of myofibrillar myopathy (MFM1 ) caused by mutation in the DES gene (OMIM ) on chromosome 2q35.Christensen et al. (2010) screened 65 ARVD probands for mutations in 5 desmosomal genes as well as the TGFB3 gene (OMIM ), and identified 19 different mutations in the desmosomal genes in 12 of the families, including 7 with more than 1 mutation. In 6 families, digenic mutation carriers were identified, with at least 1 of the mutations being absent in the control population. The authors stated that their findings partially supported a gene dosage effect, although phenotypic variation was large.Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, and JUP genes.

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 Is also known as arvc1|arrhythmogenic right ventricular cardiomyopathy 1

Related symptoms:

  • Fever
  • Cardiomyopathy
  • Edema
  • Myopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

Other less relevant matches:

In a report on the 37th ENMC Workshop, Rudel and Lehmann-Horn (1997) stated that the sodium channelopathies can be divided into 3 different forms: paramyotonia, potassium-aggravated myotonia, and periodic paralysis. Potassium-aggravated myotonia includes mild myotonia fluctuans, severe myotonia permanens, and acetazolamide-responsive myotonia.

MYOTONIA, POTASSIUM-AGGRAVATED Is also known as myotonia congenita, acetazolamide-responsive|myotonia fluctuans|sodium channel muscle disease|myotonia congenita, atypical|myotonia permanens

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Feeding difficulties
  • Fever
  • Fatigue


SOURCES: OMIM MENDELIAN

More info about MYOTONIA, POTASSIUM-AGGRAVATED

Immunodeficiency-19 (IMD19) is an autosomal recessive form of severe combined immunodeficiency (SCID) characterized by onset in early infancy of recurrent bacterial, viral, and fungal infections. Patients usually have chronic diarrhea, recurrent respiratory infections, and failure to thrive. Immunologic work-up shows a T cell-negative, B cell-positive, natural killer (NK) cell-positive phenotype. The disorder is lethal in early childhood without bone marrow transplantation (summary by Yu et al., 2011).

IMMUNODEFICIENCY 19; IMD19 Is also known as scid, t cell-negative, b cell-positive, nk cell-positive|cd3-delta deficiency|severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive

Related symptoms:

  • Failure to thrive
  • Fever
  • Respiratory distress
  • Diarrhea
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 19; IMD19

Related symptoms:

  • Anemia
  • Fever
  • Weight loss
  • Dyspnea
  • Hepatosplenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY NEUTROPHILIA

Fructose-1,6-biphosphatase (FBP) deficiency is a disorder of fructose metabolism (see this term) characterized by recurrent episodes of fasting hypoglycemia with lactic acidosis, that may be life-threatening in neonates and infants.

FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY Is also known as fructose-1,6-diphosphatase deficiency|fbpase deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Hepatomegaly
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRUCTOSE-1,6-BISPHOSPHATASE DEFICIENCY

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

Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.

MALIGNANT HYPERTHERMIA OF ANESTHESIA Is also known as hyperthermia of anesthesia

Related symptoms:

  • Fever
  • Metabolic acidosis
  • Muscle stiffness
  • Ventricular tachycardia
  • Tachypnea


SOURCES: ORPHANET MENDELIAN

More info about MALIGNANT HYPERTHERMIA OF ANESTHESIA

NEDIM is a neurodevelopmental and neurodegenerative disorder characterized by delayed psychomotor development and infantile or childhood onset of hyperkinetic involuntary movements, including chorea and athetosis. The abnormal movements can be severe, sometimes resulting in inability to sit, walk, speak, or eat. Hyperkinetic movements can be exacerbated by specific triggers, such as stress, illness, or high temperature. Some patients have brain abnormalities, such as cerebral atrophy or thin corpus callosum, and some patients may develop seizures (summary by Ananth et al., 2016 and Danti et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH INVOLUNTARY MOVEMENTS; NEDIM

Top 5 symptoms//phenotypes associated to Fever and Arrhythmia

Symptoms // Phenotype % cases
Tachycardia Common - Between 50% and 80% cases
Ventricular tachycardia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Metabolic acidosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Fever and Arrhythmia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Elevated serum creatine phosphokinase Tachypnea Respiratory distress Dyspnea

Rare Symptoms - Less than 30% cases

Apnea Muscle stiffness Respiratory arrest Hepatic failure Hepatomegaly Acidosis Hypoglycemia Lethargy Hyperhidrosis Dilated cardiomyopathy Vomiting Coma Loss of consciousness Hypercapnia Sudden cardiac death Syncope Cardiac arrest Ventricular arrhythmia Myopathy Ventricular fibrillation ST segment elevation Bundle branch block Encephalopathy Cardiomyopathy T-wave inversion Nausea and vomiting Acute hepatic failure Impaired gluconeogenesis Hyperphosphatemia Ventricular extrasystoles Myoglobinuria Malignant hyperthermia Elevated hepatic transaminase Acute kidney injury Hyperkalemia Abnormality of the coagulation cascade Increased urinary glycerol Hypoglycemic encephalopathy Macrovesicular hepatic steatosis Dicarboxylic aciduria Acute rhabdomyolysis Hypoketotic hypoglycemia Hyperammonemia Ventricular hypertrophy Cardiomegaly Aciduria Hepatic steatosis Supraventricular tachycardia Global developmental delay Exercise-induced rhabdomyolysis Focal-onset seizure Absent speech Myoclonus Abnormality of movement Dyskinesia Tetraplegia Chorea Choreoathetosis Renal insufficiency Involuntary movements Infantile muscular hypotonia Poor head control Hyperkinesis Focal impaired awareness seizure Self-injurious behavior Athetosis Cerebral atrophy Dystonia Elevated creatine kinase after exercise Intellectual disability Necrotizing myopathy Intermittent painful muscle spasms Abnormality of skeletal muscles High-output congestive heart failure Abnormality of masseter muscle Cardiomyocyte mitochondrial proliferation Severe lactic acidosis Cerebellar atrophy Microcephaly Spasticity Cognitive impairment Motor delay Hypertension Ventriculomegaly Hypoplasia of the corpus callosum Neonatal hyperbilirubinemia Elevated leukocyte alkaline phosphatase Ketosis Peripheral edema Myotonia Bradycardia Cyanosis Paralysis Myalgia Fatigue Feeding difficulties Muscle weakness Sinoatrial block Abnormality of the left ventricular outflow tract Abnormal right ventricle morphology T-wave inversion in the right precordial leads Dilatation of the ventricular cavity Right ventricular cardiomyopathy Skeletal muscle hypertrophy Myofibrillar myopathy Abnormal myocardium morphology Myocarditis Left bundle branch block Multiple lipomas Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Atrioventricular block Palpitations Dilatation Congestive heart failure Edema Right bundle branch block Abnormal heart morphology Stridor Periodic paralysis Neonatal hypoglycemia Eosinophilia Hyperventilation Drowsiness Hyperuricemia Hyperbilirubinemia Lactic acidosis Irritability Muscular hypotonia Megakaryocyte dysplasia Refractory anemia Neutrophilia Thickened calvaria Pericardial effusion Myelodysplasia Hepatosplenomegaly Laryngospasm Weight loss Anemia Severe combined immunodeficiency Combined immunodeficiency Lymphopenia Chronic diarrhea Recurrent otitis media Hepatitis Respiratory tract infection Recurrent respiratory infections Immunodeficiency Diarrhea Failure to thrive Apneic episodes in infancy Atrophy/Degeneration affecting the brainstem


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