Myopathy, and Sudden cardiac death

Diseases related with Myopathy and Sudden cardiac death

In the following list you will find some of the most common rare diseases related to Myopathy and Sudden cardiac death that can help you solving undiagnosed cases.


Top matches:

High match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12


Related symptoms:

  • Cardiomyopathy
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Myalgia
  • Scarring


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 12; CMH12

High match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8


CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8 Is also known as cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure
  • Hypertrophic cardiomyopathy


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 8; CMH8

High match CARDIOMYOPATHY, DILATED, 1I; CMD1I


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1I; CMD1I

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Other less relevant matches:

High match ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1


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

High match DESMINOPATHY


Desminopathy is a rare genetic skeletal muscle disease characterized by abnormal chimeric aggregates of desmin and other cytoskeletal proteins and granulofilamentous material at the ultrastructural level in muscle biopsies and variable clinical/ myopathological features, age of disease onset and rate of disease progression. Patients present with bilateral skeletal muscle weakness that starts in distal leg muscles and spreads proximally, sometimes involving trunk, neck flexors and facial muscles and often cardiomyopathy manifested by conduction blocks, arrhythmias, chronic heart failure, and sometimes tachyarrhythmia. Weakness eventually leads to wheelchair dependence. Respiratory insufficiency can be a major cause of disability and death, beginning with nocturnal hyperventilation with oxygen desaturation and progressing to daytime respiratory failure.

DESMINOPATHY Is also known as desmin-related myofibrillar myopathy

Related symptoms:

  • Cardiomyopathy
  • Diarrhea
  • Arrhythmia
  • Constipation
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about DESMINOPATHY

High match FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive

Related symptoms:

  • Ataxia
  • Pain
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION

High match HISTIOCYTOID CARDIOMYOPATHY


Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

High 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

High match AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B


Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.

AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B Is also known as lgmd1b|limb-girdle muscular dystrophy due to lamin a/c deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 1B

High match CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY


CPT I deficiency is an autosomal recessive metabolic disorder of long-chain fatty acid oxidation characterized by severe episodes of hypoketotic hypoglycemia usually occurring after fasting or illness. Onset is in infancy or early childhood (Bougneres et al., 1981)

CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY Is also known as cpt deficiency, hepatic, type i|cpt i deficiency|carnitine palmitoyltransferase ia deficiency

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscular hypotonia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: MESH OMIM MENDELIAN

More info about CARNITINE PALMITOYLTRANSFERASE I DEFICIENCY

Top 5 symptoms//phenotypes associated to Myopathy and Sudden cardiac death

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Ventricular hypertrophy Uncommon - Between 30% and 50% cases
Ventricular tachycardia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Myopathy and Sudden cardiac death. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Cardiomegaly Congestive heart failure Ventricular fibrillation Elevated serum creatine phosphokinase Left ventricular hypertrophy Skeletal myopathy Atrioventricular block Atrial fibrillation Hypertrophic cardiomyopathy Diarrhea Cardiac arrest Muscle weakness Feeding difficulties Fatigue Hepatic steatosis

Rare Symptoms - Less than 30% cases


Bradycardia Ventricular arrhythmia Left ventricular noncompaction EMG: myopathic abnormalities Skeletal muscle atrophy Proximal muscle weakness Myofibrillar myopathy Generalized hypotonia Seizures Abnormal atrioventricular conduction Right ventricular cardiomyopathy Abnormal myocardium morphology Myocarditis Left bundle branch block Bundle branch block Muscular hypotonia Hepatocellular necrosis Myalgia Lethargy Dyspnea T-wave inversion Syncope Exertional dyspnea Atrial flutter Reduced systolic function Hepatic failure Hypoketotic hypoglycemia Dilatation Hepatomegaly Palpitations Decreased plasma carnitine Neonatal hypotonia Difficulty running Difficulty climbing stairs Calf muscle hypertrophy Limb-girdle muscular dystrophy Lipodystrophy Ankle contracture Knee flexion contracture Elbow flexion contracture Waddling gait Muscular dystrophy Hyperlordosis Difficulty walking Neonatal sepsis Midface retrusion Myoglobinuria Respiratory insufficiency Gait disturbance Rhabdomyolysis Hepatic encephalopathy Wide nasal bridge Dicarboxylic aciduria Flexion contracture Scoliosis Exercise-induced myoglobinuria Left atrial enlargement Limb-girdle muscle atrophy Limb-girdle muscle weakness Renal tubular acidosis Hypertriglyceridemia Hyperbilirubinemia Hyperlipidemia Reduced tendon reflexes Hyperammonemia Hemiplegia/hemiparesis Loss of consciousness Elevated serum creatinine Coma Conjugated hyperbilirubinemia Nonketotic hypoglycemia Prenatal maternal abnormality Acute hepatic steatosis Reye syndrome-like episodes Recurrent encephalopathy Hyperemesis gravidarum Sepsis Neurological speech impairment Achilles tendon contracture Paroxysmal supraventricular tachycardia Pelvic girdle muscle weakness Abnormal echocardiogram Atrial arrhythmia Sick sinus syndrome Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Tachypnea Fatiguable weakness of proximal limb muscles Abnormality of the liver Pelvic girdle amyotrophy Abnormal muscle fiber lamin A/C Behavioral abnormality Acidosis Hypoglycemia Elevated hepatic transaminase Feeding difficulties in infancy Infantile muscular hypotonia Hypoplasia of the retina Progressive muscle weakness Bulbar palsy Sinoatrial block Constipation Facial palsy Distal muscle weakness Respiratory insufficiency due to muscle weakness Right bundle branch block Neck muscle weakness Abnormal right ventricle morphology Asymmetric septal hypertrophy Hyporeflexia of lower limbs Abnormal levels of creatine kinase in blood Left anterior fascicular block Late-onset proximal muscle weakness Restrictive heart failure Abnormality of the left ventricular outflow tract T-wave inversion in the right precordial leads Ataxia Tachycardia Hypotension Restrictive cardiomyopathy Ventricular escape rhythm Mildly reduced ejection fraction Fever Edema Hypertension Dilatation of the ventricular cavity Paroxysmal atrial fibrillation Coronary artery atherosclerosis Elevated erythrocyte sedimentation rate Multiple lipomas ST segment elevation Peripheral edema Trifascicular block Pain Dehydration Histiocytoid cardiomyopathy Congenital glaucoma Supraventricular tachycardia Wolff-Parkinson-White syndrome Peters anomaly Endocardial fibroelastosis Decreased activity of mitochondrial complex I Increased mitochondrial number Scarring Endocardial fibrosis Acute tubular necrosis Vomiting Encephalopathy Irritability Nephropathy Hypoplastic left heart Corneal opacity Ventriculomegaly Abnormal EKG Chest pain Increased variability in muscle fiber diameter Pericardial effusion Abnormality of the thyroid gland Amyloidosis Thromboembolism Sinus bradycardia Agenesis of corpus callosum Left ventricular failure Premature atrial contractions Paroxysmal ventricular tachycardia Ventricular septal defect Hydrocephalus Atrial septal defect Microphthalmia Transient hyperlipidemia



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