Cardiomyopathy, and Ventricular septal defect

Diseases related with Cardiomyopathy and Ventricular septal defect

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


Top matches:

Low match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5; CHTD5


Related symptoms:

  • Ventricular septal defect
  • Atrial septal defect
  • Dilated cardiomyopathy
  • Tetralogy of Fallot
  • Atrial fibrillation


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 5; CHTD5

Low match CARDIOMYOPATHY, DILATED, 1R; CMD1R


Related symptoms:

  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure
  • Hypertrophic cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1R; CMD1R

Low match ATRIAL SEPTAL DEFECT 4; ASD4


Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about ATRIAL SEPTAL DEFECT 4; ASD4

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Other less relevant matches:

Low match FAMILIAL BICUSPID AORTIC VALVE


Familial bicuspid aortic valve is a rare, genetic, aortic malformation defined as a presence of abnormal two-leaflet aortic valve in at least 2 first-degree relatives. It is frequently asymptomatic or may be associated with progressive aortic valve disease (aortic regurgitation and/or aortic stenosis, typically due to valve calcification) and a concomitant aortopathy (i.e. aortic dilation, aortic aneurysm and/or dissection).

FAMILIAL BICUSPID AORTIC VALVE Is also known as aortic valve, calcification of|aortic stenosis, calcific|aortic valve, bicuspid|familial bav|bav|bicuspid aortic valve|aortic valve disease

Related symptoms:

  • Hypertension
  • Fever
  • Ventricular septal defect
  • Cardiomyopathy
  • Atrial septal defect


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL BICUSPID AORTIC VALVE

Low match LEFT VENTRICULAR NONCOMPACTION


Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

Low match MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D


Mitochondrial short-chain enoyl-CoA hydratase-1 deficiency is an autosomal recessive inborn error of metabolism characterized by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia (summary by Peters et al., 2014).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL SHORT-CHAIN ENOYL-COA HYDRATASE 1 DEFICIENCY; ECHS1D

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 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

Low match GRANGE SYNDROME


Grange syndrome is characterised by stenosis or occlusion of multiple arteries (including the renal, cerebral and abdominal vessels), hypertension, brachysyndactyly, syndactyly, increased bone fragility, and learning difficulties or borderline intellectual deficit. Congenital heart defects were also reported in some cases.

GRANGE SYNDROME Is also known as arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly|grange occlusive arterial syndrome|progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome

Related symptoms:

  • Intellectual disability
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Pain


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about GRANGE SYNDROME

Low match LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2


Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 Is also known as multiple contracture syndrome, israeli-bedouin type|lccs2|multiple contracture syndrome, israeli bedouin type a

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • Myopia
  • Skeletal muscle atrophy
  • Ventricular septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Ventricular septal defect

Symptoms // Phenotype % cases
Dilated cardiomyopathy Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Restrictive cardiomyopathy Uncommon - Between 30% and 50% cases
Hypoplastic left heart Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Ventricular septal defect. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Endocardial fibroelastosis Abnormal heart morphology Hypertension Left ventricular noncompaction Dilatation Abnormal myocardium morphology Syncope Bicuspid aortic valve Atrial fibrillation

Rare Symptoms - Less than 30% cases


Wolff-Parkinson-White syndrome Heart murmur Ventricular tachycardia Abnormal left ventricle morphology Histiocytoid cardiomyopathy Edema Sudden cardiac death Arrhythmia Patent ductus arteriosus Abnormal facial shape Cardiomegaly Atrioventricular block Skeletal myopathy Double outlet right ventricle Aortic valve stenosis Coarctation of aorta Aortic regurgitation Ventricular arrhythmia Hypertrophic cardiomyopathy Pulmonary arterial hypertension Mitral stenosis Left ventricular hypertrophy Hypoplasia of the retina Acute tubular necrosis Failure to thrive Intellectual disability Hypertelorism Decreased activity of mitochondrial complex I Pain Brachydactyly Renal insufficiency Syndactyly Increased mitochondrial number Pterygium Abnormal atrioventricular conduction Microphthalmia Abnormal ventricular filling Abnormal cardiac atrium morphology Abnormality of the pulmonary veins Abnormal mitochondrial number Multiple pterygia Hydrocephalus Agenesis of corpus callosum Peters anomaly Corneal opacity Hepatic steatosis Cardiac arrest Ventricular fibrillation Congenital glaucoma Supraventricular tachycardia Abdominal pain Clinodactyly Decreased body weight Pulmonic stenosis Akinesia Congenital contracture High myopia Decreased fetal movement Arthrogryposis multiplex congenita Facial palsy Hydronephrosis Polyhydramnios Respiratory failure Respiratory insufficiency Skeletal muscle atrophy Myopia Flexion contracture Micrognathia Carotid artery stenosis Renovascular hypertension Short palm Fetal akinesia sequence Renal artery stenosis Vitreoretinopathy Intellectual disability, borderline Limb joint contracture Arterial stenosis Gastritis Perimembranous ventricular septal defect Cutaneous finger syndactyly Increased susceptibility to fractures Cutaneous syndactyly Finger clinodactyly Specific learning disability Recurrent fractures Coronary artery stenosis Vertical nystagmus Abnormality of cardiovascular system physiology Mitral atresia Abnormal thrombosis Concave nasal ridge Left bundle branch block Pulmonary embolism Right bundle branch block Bundle branch block Exercise intolerance Hydrops fetalis Mitral regurgitation Tachycardia Respiratory distress Thoracic aorta calcification Bicuspid pulmonary valve Abnormality of the left ventricular outflow tract Cystic medial necrosis Biventricular hypertrophy Hypoplastic aortic arch Ascending aortic dissection Aortic arch aneurysm Aortic valve calcification Thoracic aortic aneurysm Asymmetric septal hypertrophy Aortic dissection Aortic aneurysm Fever Patent foramen ovale Mitral valve prolapse ST segment depression Myocarditis Tetralogy of Fallot Right ventricular failure Permanent atrial fibrillation Abnormality of the mitochondrion Poor suck Myofibrillar myopathy Pulmonary edema Myocardial fibrosis Eosinophilia Ascites Inability to walk Dyspnea Pneumonia Abnormality of metabolism/homeostasis Myopathy Ventriculomegaly Muscle weakness Decreased activity of the pyruvate dehydrogenase complex Increased CSF lactate Increased serum lactate Left ventricular noncompaction cardiomyopathy Neurodegeneration Abnormality of eye movement Abnormality of the eye Apnea Dystonia Hypoplasia of the corpus callosum Spasticity Nystagmus Hearing impairment Generalized hypotonia Global developmental delay Seizures Abnormality of the fascia Noncompaction cardiomyopathy Degenerative vitreoretinopathy



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