Cardiomyopathy, and Ventriculomegaly

Diseases related with Cardiomyopathy and Ventriculomegaly

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


Top matches:

Low match ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12


ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12 Is also known as arrhythmogenic right ventricular cardiomyopathy 12|arvc12

Related symptoms:

  • Ventriculomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Tachycardia


SOURCES: OMIM MESH MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 12; ARVD12

Low 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

Low match CARDIOMYOPATHY, DILATED, 1D; CMD1D


CARDIOMYOPATHY, DILATED, 1D; CMD1D Is also known as left ventricular noncompaction 6, included|lvnc6, included

Related symptoms:

  • Ventriculomegaly
  • Cardiomyopathy
  • Congestive heart failure
  • Dilatation
  • Dyspnea


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1D; CMD1D

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Other less relevant matches:

Low 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

Low 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

Low match LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3


LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3

Low match CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1


CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1 Is also known as rcm

Related symptoms:

  • Muscle weakness
  • Ventricular septal defect
  • Ventriculomegaly
  • Cardiomyopathy
  • Edema


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1

Low match FAMILIAL ISOLATED DILATED CARDIOMYOPATHY


Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|cmpd1|familial or idiopathic dilated cardiomyopathy|fdc

Related symptoms:

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1


Congenital muscular dystrophies resulting from defective glycosylation of alpha-dystroglycan (DAG1 ) are characterized by early onset of muscle weakness, usually before ambulation is achieved; mental retardation and mild brain anomalies are variable (Balci et al., 2005; Godfrey et al., 2007). Congenital muscular dystrophy-dystroglycanopathies with or without mental retardation (type B) represent the intermediate range of the spectrum of dystroglycanopathies. They are less severe than muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A; see MDDGA1, {236670}), previously designated Walker-Warburg syndrome (WWS) or muscle-eye-brain disease (MEB), and more severe than limb-girdle muscular dystrophy-dystroglycanopathy (type C; see MDDGC1, {609308}). Genetic Heterogeneity of Congenital Muscular Dystrophy-Dystroglycanopathy with or without Mental Retardation (Type B)Congenital muscular dystrophy with mental retardation due to defective glycosylation of DAG1 is genetically heterogeneous. See also MDDGB2 (OMIM ), caused by mutation in the POMT2 gene (OMIM ); MDDGB3 (OMIM ), caused by mutation in the POMGNT1 gene (OMIM ); MDDGB4 (OMIM ), caused by mutation in the FKTN gene (OMIM ); MDDGB5 (OMIM ), caused by mutation in the FKRP gene (OMIM ); MDDGB6 (OMIM ), caused by mutation in the LARGE gene (OMIM ); and MDDGB14 (OMIM ), caused by mutation in the GMPPB gene (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1 Is also known as muscular dystrophy, congenital, pomt1-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1; MDDGB1

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Ventriculomegaly

Symptoms // Phenotype % cases
Dilated cardiomyopathy Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Dilatation Common - Between 50% and 80% cases
Myopathy Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ventricular arrhythmia Abnormal left ventricle morphology Left ventricular noncompaction Atrial fibrillation Dyspnea Atrioventricular block Global developmental delay Generalized hypotonia Arrhythmia Syncope

Rare Symptoms - Less than 30% cases


Myopia Elevated serum creatine phosphokinase Intellectual disability Pericardial effusion Thromboembolism Skeletal myopathy Reduced systolic function Inability to walk Edema Skeletal muscle atrophy Nystagmus Generalized amyotrophy Histiocytoid cardiomyopathy Seizures Absent speech Muscular hypotonia of the trunk Cerebellar hypoplasia Intrauterine growth retardation Ventricular hypertrophy Growth delay Ventricular fibrillation Stroke Cardiomegaly Left ventricular noncompaction cardiomyopathy Tachycardia Ventricular tachycardia Bundle branch block Abnormal EKG Left bundle branch block T-wave inversion Right ventricular dilatation Pulmonary arterial hypertension Myocardial fibrosis Left ventricular failure Feeding difficulties Ataxia Fatigue Amblyopia Cataract Muscular dystrophy Facial palsy Multifocal seizures Intellectual disability, severe Hypoplasia of the corpus callosum Neurological speech impairment Dysmetria Respiratory distress Lactic acidosis Motor delay Flexion contracture Increased serum lactate Scoliosis Severe global developmental delay Microcephaly Tetraplegia Diffuse palmoplantar hyperkeratosis Impaired myocardial contractility Abnormality of neutrophils Severe sensorineural hearing impairment Lipoatrophy Congenital sensorineural hearing impairment Palmoplantar hyperkeratosis Tachypnea EMG abnormality Palpitations Palmoplantar keratoderma Diffuse cerebral atrophy Epileptic spasms Acidosis Spasticity Rod-cone dystrophy Exotropia Encephalopathy Thrombocytopenia Cerebral atrophy Dystonia Hypertonia Cerebellar atrophy Tremor Optic atrophy Hyperreflexia Visual impairment Delayed speech and language development Cerebellar dysplasia Congenital cataract Enlarged cisterna magna Hypoglycemia Congenital muscular dystrophy Rigidity Leukoencephalopathy Aggressive behavior Athetosis Delayed myelination Limb-girdle muscular dystrophy Macroglossia Retinal dystrophy Limb hypertonia Spastic tetraplegia Brisk reflexes Lacrimal duct atresia Cough Amyloidosis Pulmonary embolism Coronary artery atherosclerosis Tricuspid regurgitation Bicuspid aortic valve Shock Coarctation of aorta Pulmonic stenosis Hypertrophic cardiomyopathy Proximal muscle weakness Paroxysmal ventricular tachycardia Premature atrial contractions Sinus bradycardia Atrial flutter Myocarditis Abnormality of the thyroid gland First degree atrioventricular block Increased variability in muscle fiber diameter Bradycardia Chest pain Sudden cardiac death Pain Hypokinesia Left ventricular hypertrophy Mitral regurgitation Hypertension Monomorphic ventricular tachycardia T-wave inversion in the right precordial leads Prolonged QRS complex Abnormal echocardiogram Right ventricular cardiomyopathy Pulmonary artery stenosis Cardiogenic shock Sensorineural hearing impairment Pneumonia Abnormal mitochondrial number Abnormality of the pulmonary veins Abnormal cardiac atrium morphology Abnormal ventricular filling Abnormality of cardiovascular system physiology Abnormality of the mitochondrion Endocardial fibroelastosis Myofibrillar myopathy Pulmonary edema Abnormal myocardium morphology Restrictive cardiomyopathy Heart murmur Eosinophilia Ascites Abnormality of metabolism/homeostasis Aortic arch aneurysm Microphthalmia Pulmonary artery hypoplasia ST segment depression Ebstein anomaly of the tricuspid valve Failure to thrive Strabismus Muscular hypotonia Agenesis of corpus callosum Ventricular septal defect Cardiac arrest Severe muscular hypotonia Sclerocornea Dilation of lateral ventricles Cavum septum pellucidum Hyperpigmented streaks Mitochondrial encephalopathy



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