Cardiomyopathy, and Myocardial infarction

Diseases related with Cardiomyopathy and Myocardial infarction

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


Top matches:

Medium match CARDIOMYOPATHY, DILATED, 1V; CMD1V


Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Dementia
  • Dilated cardiomyopathy
  • Syncope


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1V; CMD1V

Medium match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11


Related symptoms:

  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure
  • Arrhythmia
  • Dyspnea


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 11; CMH11

Medium match CARDIOMYOPATHY, DILATED, 1Y; CMD1Y


Related symptoms:

  • Pain
  • Respiratory distress
  • Cardiomyopathy
  • Edema
  • Atrial septal defect


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1Y; CMD1Y

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Other less relevant matches:

Medium match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Medium match PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Medium match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

Medium match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

Medium match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Medium match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Medium match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Myocardial infarction

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

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Sudden cardiac death Hypertension Atrial fibrillation Arrhythmia Chest pain Subcutaneous nodule Intellectual disability Muscular hypotonia Hyperextensible skin Myalgia Arterial stenosis Abnormal endocardium morphology Muscle weakness Palpitations Myopathy Respiratory distress Scapular winging Bundle branch block Syncope Heart block Joint hyperflexibility

Rare Symptoms - Less than 30% cases


Excessive wrinkled skin Spinal rigidity Ptosis High palate Wide nasal bridge Pectus excavatum Neonatal hypotonia Coronary artery atherosclerosis Mildly elevated creatine phosphokinase Lipodystrophy Atherosclerosis Abnormal mitral valve morphology Redundant neck skin Abnormality of the face Thin skin Hypertriglyceridemia Global developmental delay Difficulty climbing stairs Generalized hypotonia Specific learning disability Rimmed vacuoles Sprengel anomaly Progressive muscle weakness Respiratory insufficiency due to muscle weakness Progressive proximal muscle weakness Vertigo Lower limb muscle weakness Limb muscle weakness Muscular dystrophy Joint stiffness EMG: myopathic abnormalities Proximal muscle weakness Elbow flexion contracture Atrioventricular block Respiratory failure Restrictive cardiomyopathy Elevated serum creatine phosphokinase Limb-girdle muscular dystrophy Respiratory insufficiency Gait disturbance Flexion contracture Tricuspid regurgitation Facial palsy Hypertelorism Growth delay Abnormality of cardiovascular system morphology Redundant skin Intrauterine growth retardation Abnormal aortic valve morphology Myocarditis Ventricular tachycardia Tachycardia Myopia Edema Pain Cardiac arrest Seizures Telangiectasia of the skin Left ventricular hypertrophy Mitral regurgitation Fatigue Ventricular hypertrophy Atrial septal defect Mitral valve prolapse Abnormality of the cardiovascular system Retinopathy Abnormality of the skin Thickened nuchal skin fold Peau d'orange Peripapillary chorioretinal atrophy Subretinal fluid Medial calcification of large arteries Generalized arterial calcification Cerebral calcification Abnormality of skin pigmentation Gastrointestinal hemorrhage Erythematous papule Postural instability Premature occlusive vascular stenosis Bruising susceptibility Localized skin lesion Medial calcification of medium-sized arteries Abnormal atrioventricular valve morphology Medial calcification of small arteries Pruritus Papule Blue sclerae Arterial calcification Hyperkeratotic papule Multiple lipomas Cutis marmorata Arteriosclerosis Hypermelanotic macule Pulmonary edema Abnormal retinal morphology Abnormal thrombocyte morphology Chorioretinal atrophy Lack of skin elasticity Ectopic calcification Striae distensae Angina pectoris Peripheral arterial stenosis Severe vision loss Severe intrauterine growth retardation Mitral stenosis Abnormality of the mouth Pulmonary insufficiency Hemiplegia/hemiparesis Drusen Accelerated atherosclerosis Subcutaneous calcification Nephrocalcinosis Macular degeneration Cutis laxa Ischemic stroke Vascular calcification Intracranial hemorrhage Civatte bodies Choroidal neovascularization Abnormality of connective tissue Renovascular hypertension Abnormality of the thorax Metamorphopsia Angioid streaks of the fundus Intermittent claudication Acne Retinal hemorrhage Abnormality of the cerebral vasculature Arachnodactyly Strabismus Thick vermilion border Melanoma Spina bifida occulta Cafe-au-lait spot Abnormality of the genital system Tetralogy of Fallot Webbed neck Nevus Triangular face Delayed puberty Abnormality of the voice Pulmonic stenosis Pectus carinatum Abnormality of the kidney Low-set, posteriorly rotated ears Mandibular prognathia Hyperkeratosis Brachycephaly Posteriorly rotated ears Myelodysplasia Melanocytic nevus Hypospadias Right ventricular hypertrophy Hypoplasia of the ovary Abnormal pulmonary valve morphology Multiple lentigines Abnormality of the pulmonary artery Abnormal localization of kidney Shield chest Aplasia/Hypoplasia of the abdominal wall musculature Wolff-Parkinson-White syndrome Premature skin wrinkling Bilateral cryptorchidism Severe sensorineural hearing impairment Curly hair Neuroblastoma Multiple cafe-au-lait spots Freckling Atrioventricular canal defect Decreased fertility Abnormality of the ear External genital hypoplasia Delayed skeletal maturation Intellectual disability, mild Macrocephaly Stroke Rocker bottom foot Aortic aneurysm Pyloric stenosis Coxa vara Coxa valga Short palpebral fissure Hip dysplasia Long face Hip dislocation Prematurely aged appearance Blepharophimosis Craniosynostosis Gastroesophageal reflux Macrotia Clinodactyly of the 5th finger Inguinal hernia Malar flattening Short nose Keratoconus Aortic root aneurysm Short neck Abnormal carotid artery morphology Depressed nasal bridge Cognitive impairment Low-set ears Cryptorchidism Sensorineural hearing impairment Hearing impairment Short stature Abnormality of the zygomatic bone Keratoglobus Pulmonary artery stenosis Long palm Median cleft lip and palate Femoral hernia Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Esophagitis Aortic dissection Cardiorespiratory arrest Hiatus hernia Small for gestational age Calf muscle hypertrophy Skin rash Hyperinsulinemia Secondary amenorrhea Abnormality of the musculature Aplasia/Hypoplasia of the skin Lipoatrophy Reduced subcutaneous adipose tissue Skeletal muscle hypertrophy Hyperglycemia Polycystic ovaries Insulin-resistant diabetes mellitus Pancreatitis Acanthosis nigricans Generalized hirsutism Insulin resistance Primary amenorrhea Epidermal acanthosis Amenorrhea Hyperuricemia Oligomenorrhea Hirsutism Loss of facial adipose tissue Delayed speech and language development Cataract Marked muscular hypertrophy Loss of gluteal subcutaneous adipose tissue Abnormality of skeletal muscle fiber size Prominent veins on trunk Eclampsia Dysmenorrhea Maternal diabetes Loss of subcutaneous adipose tissue in limbs Calf muscle pseudohypertrophy Hyperlipoproteinemia Decreased HDL cholesterol concentration Xanthomatosis Prominent superficial veins Abnormality of the neck Preeclampsia Hepatic steatosis Cirrhosis Diarrhea Hyperhidrosis Anorexia Pulmonary arterial hypertension Migraine Neurological speech impairment Arthritis Arthralgia Weight loss Fever Vasculitis Anemia Left ventricular noncompaction cardiomyopathy Left ventricular noncompaction T-wave inversion Myocardial fibrosis Abnormal EKG Dementia Skin ulcer Aortic regurgitation Infertility Gastrointestinal infarctions Hepatosplenomegaly Diabetes mellitus Splenomegaly Hepatomegaly Increased inflammatory response Hypertensive crisis Arteritis Amaurosis fugax Psoriasiform dermatitis Ascending tubular aorta aneurysm Abnormal pattern of respiration Inflammatory abnormality of the eye Reduced consciousness/confusion Cerebral ischemia Gangrene Hemoptysis Abnormal heart valve morphology Peripheral neuropathy Constipation Scarring Shoulder girdle muscle weakness Atrial arrhythmia Increased LDL cholesterol concentration Abnormal atrioventricular conduction Supraventricular arrhythmia Proximal muscle weakness in lower limbs Distal lower limb muscle weakness Achilles tendon contracture Distal lower limb amyotrophy Peroneal muscle atrophy Limb-girdle muscle weakness Proximal amyotrophy Vocal cord paralysis Ankle contracture Toe walking Myotonia Congenital muscular dystrophy Shoulder girdle muscle atrophy Proximal lower limb amyotrophy Back pain Restricted neck movement due to contractures Hypothyroidism Reduced visual acuity Visual loss Renal insufficiency Blindness Visual impairment Absent muscle fiber emerin Decreased cervical spine flexion due to contractures of posterior cervical muscles Proximal muscle weakness in upper limbs Proximal spinal muscular atrophy Type 1 muscle fiber atrophy Proximal upper limb amyotrophy Scapuloperoneal amyotrophy Ventricular escape rhythm Peroneal muscle weakness Left anterior fascicular block Limb-girdle muscle atrophy Spinal muscular atrophy Ventricular arrhythmia Pneumonia Centrally nucleated skeletal muscle fibers Right ventricular cardiomyopathy Hyporeflexia of lower limbs Skeletal myopathy Myofibrillar myopathy Atrial flutter Ventricular extrasystoles Neck muscle weakness Bulbar palsy Sick sinus syndrome Hypokinesia Right bundle branch block Increased variability in muscle fiber diameter Akinesia Muscle stiffness Generalized muscle weakness Paresthesia Distal muscle weakness Intestinal pseudo-obstruction Third degree atrioventricular block Reduced tendon reflexes Rigidity Knee flexion contracture Bradycardia Frequent falls Waddling gait Falls Ichthyosis Hyperlordosis Difficulty walking Late-onset proximal muscle weakness Pes cavus Obesity Midface retrusion Kyphosis Skeletal muscle atrophy Feeding difficulties Restrictive heart failure Pica Numerous nevi



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