Cardiomyopathy, and Mitral valve prolapse

Diseases related with Cardiomyopathy and Mitral valve prolapse

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


Top matches:

Medium 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

Medium match MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY


Megaconial-type congenital muscular dystrophy is an autosomal recessive disorder characterized by early-onset muscle wasting and mental retardation. Some patients develop fatal cardiomyopathy. Muscle biopsy shows peculiar enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center (summary by Mitsuhashi et al., 2011).

MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY Is also known as muscular dystrophy, congenital, with mitochondrial structural abnormalities|congenital megaconial myopathy|congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect|congenital muscular dystrophy with mitochondrial structural abnormaliti

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MEGACONIAL CONGENITAL MUSCULAR DYSTROPHY

Medium match CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2


Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

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Other less relevant matches:

Medium match NOONAN SYNDROME 3; NS3


Noonan syndrome is an autosomal dominant dysmorphic syndrome characterized primarily by dysmorphic facial features, cardiac abnormalities, and short stature, among other features (summary by Shah et al., 1999).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ), which is caused by mutations in the PTPN11 gene (OMIM ). Approximately 50% of cases of Noonan syndrome are caused by mutations in PTPN11.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Strabismus
  • Abnormal facial shape


SOURCES: OMIM MESH MENDELIAN

More info about NOONAN SYNDROME 3; NS3

Medium match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Medium match AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968). Genetic Heterogeneity of Autosomal Recessive External Ophthalmoplegia with Mitochondrial DNA DeletionsSee also PEOB2 (OMIM ), caused by mutation in the RNASEH1 gene (OMIM ) on chromosome 2p25; PEOB3 (OMIM ), caused by mutation in the TK2 gene (OMIM ) on chromosome 16q21; PEOB4 (OMIM ), caused by mutation in the DGUOK gene (OMIM ) on chromosome 2p13; and PEOB5 (OMIM ), caused by mutation in the TOP3A gene (OMIM ) on chromosome 17p11.

AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as arpeo|progressive external ophthalmoplegia, autosomal recessive 1

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Muscle weakness
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

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 CORNELIA DE LANGE SYNDROME 2; CDLS2


Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 4 to 6% of patients have mutations in the X-linked SMC1A gene, whereas about 60% have mutations in the NIPBL gene (OMIM ) on chromosome 5p13 (CDLS1 ) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see {122470}.

CORNELIA DE LANGE SYNDROME 2; CDLS2 Is also known as cornelia de lange syndrome, x-linked|cdls, x-linked

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 2; CDLS2

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

Medium match MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME


MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.

MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls|midas syndrome|microphthalmia, dermal aplasia, and sclerocornea|microphthalmia-dermal aplasia-sclerocornea syndrome|mcops7|microphthalmia with linear skin defects|syndromic microphthalmia type 7|mls syndrome|microphthalmia, syndromic 7

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Mitral valve prolapse

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Atrial septal defect Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Mitral valve prolapse. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertrophic cardiomyopathy Seizures Mitral regurgitation High palate Ptosis Pulmonic stenosis Dilated cardiomyopathy Cognitive impairment Posteriorly rotated ears Intrauterine growth retardation Low-set ears Micrognathia Hypertelorism Abnormality of cardiovascular system morphology Downslanted palpebral fissures Dilatation Anteverted nares Short neck Abnormal facial shape Scoliosis Hearing impairment Microcephaly Pectus excavatum Congestive heart failure Ventricular septal defect

Rare Symptoms - Less than 30% cases


Myocardial infarction Subcutaneous nodule Thin upper lip vermilion Webbed neck Hyperextensible skin Dyspnea Tricuspid regurgitation Brachycephaly Cutis marmorata Hypertension Abnormality of skin pigmentation Sensorineural hearing impairment Abnormality of the ear Abnormal retinal morphology Cafe-au-lait spot Scapular winging Specific learning disability Stroke Arrhythmia Hypospadias Wide nasal bridge Hypogonadism Visual impairment Joint hyperflexibility Cataract Blindness Tricuspid valve prolapse Supraventricular tachycardia Striae distensae Visual loss Curly hair Abnormality of the cardiovascular system Skin rash Small hand Tachycardia Aortic regurgitation Coloboma Poor speech Redundant neck skin Myopia Elevated serum creatine phosphokinase Abnormal endocardium morphology Peripheral neuropathy Generalized hypotonia Muscle weakness Mildly elevated creatine phosphokinase Abnormal mitral valve morphology Hyperkeratosis Ichthyosis Myopathy Intellectual disability, mild Facial palsy Proximal muscle weakness Neonatal hypotonia Hyporeflexia Macrocephaly Excessive wrinkled skin Peripheral axonal neuropathy Abnormal heart morphology Mitral stenosis Broad forehead Feeding difficulties Sparse hair Low-set, posteriorly rotated ears Patent foramen ovale Nevus Semilobar holoprosencephaly Limited elbow movement Hemihypertrophy Enlarged cisterna magna Prominent metopic ridge Skull asymmetry Melanoma Myelodysplasia Accelerated atherosclerosis Proximal placement of thumb Abnormality of the voice Curly eyelashes Muscular hypotonia Spina bifida occulta Mandibular prognathia Thick vermilion border Delayed puberty Pectus carinatum Abnormality of the kidney Tetralogy of Fallot Abnormality of the genital system Abnormality of the face Hyperkeratotic papule Left ventricular hypertrophy Subcutaneous calcification Vascular calcification Depressed nasal bridge Arterial calcification Cryptorchidism Triangular face Delayed skeletal maturation Ventriculomegaly Widely spaced teeth Medial calcification of small arteries Thick eyebrow Medial calcification of medium-sized arteries Abnormal atrioventricular valve morphology Smooth philtrum Synophrys Prominent nasal bridge Bilateral cryptorchidism Respiratory tract infection Downturned corners of mouth Deeply set eye EEG abnormality Gastroesophageal reflux Cleft palate Spasticity Brachydactyly Recurrent respiratory infections Clinodactyly Hirsutism Highly arched eyebrow Holoprosencephaly Ventricular hypertrophy Localized skin lesion Generalized arterial calcification Absent speech Low anterior hairline Medial calcification of large arteries Long eyelashes Decreased body weight Peripapillary chorioretinal atrophy Narrow forehead Short foot Peau d'orange Wide intermamillary distance Subretinal fluid Febrile seizures Erythematous papule Esotropia Premature occlusive vascular stenosis Full cheeks Melanocytic nevus Agenesis of corpus callosum Bundle branch block Hypoplasia of the uterus Sclerocornea Male pseudohermaphroditism Abnormal eyelash morphology Posterior embryotoxon Anencephaly Aplasia cutis congenita Anteriorly placed anus Absent septum pellucidum Aplasia/Hypoplasia of the skin Congenital glaucoma Dysphasia Abnormal eyelid morphology Aphasia Albinism Preauricular pit Ventricular fibrillation Anophthalmia Clitoral hypertrophy Dermal atrophy Mutism Hypopigmented skin patches Sacral dimple Ocular albinism Retinal dysplasia Abnormality of dental enamel Functional motor deficit Asymmetric, linear skin defects Cleft earlobe Abnormality of the rectum Vitritis Histiocytoid cardiomyopathy Orbital cyst Chorioretinal dysplasia Abnormal vitreous humor morphology Abnormality of the fallopian tube Arteria lusoria Ovotestis Echolalia Abnormality of the penis Mandibular aplasia Overriding aorta Abnormality of the anus Abnormal nasolacrimal system morphology Epispadias Abnormality of earlobe Chordee Periventricular leukomalacia Colpocephaly Abnormality of the testis Intellectual disability, progressive Abnormality of the nail External genital hypoplasia Shield chest Hydrocephalus Respiratory distress Failure to thrive Numerous nevi Hypoplasia of the ovary Abnormal pulmonary valve morphology Multiple lentigines Abnormality of the pulmonary artery Abnormal localization of kidney Abnormal aortic valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Microphthalmia Wolff-Parkinson-White syndrome Right ventricular hypertrophy Premature skin wrinkling Sprengel anomaly Severe sensorineural hearing impairment Neuroblastoma Multiple cafe-au-lait spots Freckling Atrioventricular canal defect Decreased fertility Syndactyly Midface retrusion Hyperpigmentation of the skin Anal atresia Abnormality of retinal pigmentation Amblyopia Status epilepticus Congenital diaphragmatic hernia Ambiguous genitalia Pigmentary retinopathy Hypopigmentation of the skin Retinal dystrophy Iris coloboma Wide nose Nail dystrophy Abnormality of metabolism/homeostasis Corneal opacity Abnormal cardiac septum morphology Blepharophimosis Erythema Retrognathia Micropenis Respiratory failure Glaucoma Severe short stature Abnormality of connective tissue Hernia Civatte bodies Nephrocalcinosis Renovascular hypertension Disproportionate tall stature Ataxia Reversed usual vertebral column curves Quadricuspid aortic valve Bacterial endocarditis Mastoiditis Asthenia Endocarditis Thromboembolism Abnormal heart valve morphology Dental crowding Optic atrophy Atrial fibrillation Limb undergrowth Convex nasal ridge Chest pain High, narrow palate Long face Short philtrum Intellectual disability, moderate Joint laxity Dysarthria Tremor Long philtrum Abnormality of the cerebral white matter Limb ataxia Bradykinesia Parkinsonism Generalized muscle weakness Distal sensory impairment Paresthesia Confusion Limb muscle weakness Ophthalmoplegia Distal muscle weakness Fatigue Anxiety Rigidity Gait ataxia Pes cavus Areflexia Depressivity Cerebral atrophy Cerebellar atrophy Dysphagia Upslanted palpebral fissure Pain Exercise intolerance Waddling gait Coarse facial features High forehead Proptosis Mitochondrial depletion Difficulty standing Congenital muscular dystrophy Gowers sign Infantile muscular hypotonia Frequent falls Falls Hemangioma Muscular dystrophy Attention deficit hyperactivity disorder Hyperactivity Skeletal muscle atrophy Motor delay Delayed speech and language development Endocardial fibroelastosis Pulmonary arterial hypertension Coarctation of aorta Fine hair Bilateral ptosis Dysplastic pulmonary valve Dolichocephaly Atrial septal dilatation Juvenile myelomonocytic leukemia Hypoplastic nasal bridge Myeloproliferative disorder Sagittal craniosynostosis Scaphocephaly Cystic hygroma Pterygium Deep philtrum Leukemia Sparse eyebrow Craniosynostosis Polyhydramnios Patent ductus arteriosus Short nose Frontal bossing Epicanthus Strabismus Neuropathic arthropathy Arthropathy Absent eyebrow Muscle stiffness Respiratory insufficiency due to muscle weakness Metamorphopsia Macular degeneration Coronary artery atherosclerosis Hemiplegia/hemiparesis Acne Abnormality of the thorax Intracranial hemorrhage Redundant skin Ischemic stroke Cutis laxa Atherosclerosis Blue sclerae Chorioretinal atrophy Cerebral calcification Abnormality of the skin Gastrointestinal hemorrhage Sudden cardiac death Postural instability Bruising susceptibility Pruritus Papule Small for gestational age Hypermelanotic macule Multiple lipomas Scarring Abnormal thrombocyte morphology Angioid streaks of the fundus Intermittent claudication Retinal hemorrhage Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Arteriosclerosis Arterial stenosis Pulmonary edema Restrictive cardiomyopathy Telangiectasia of the skin Lack of skin elasticity Angina pectoris Peripheral arterial stenosis Abnormality of the cerebral vasculature Drusen Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Severe vision loss Retinopathy Hypothyroidism External ophthalmoplegia Generalized amyotrophy Stroke-like episode Shuffling gait Action tremor Dyschromatopsia Progressive proximal muscle weakness Increased CSF protein Progressive external ophthalmoplegia Mitochondrial myopathy Abnormality of the periventricular white matter Increased variability in muscle fiber diameter Hemianopia Sensory axonal neuropathy Mask-like facies Steppage gait Emotional lability Postural tremor Ophthalmoparesis Dysphonia EMG: myopathic abnormalities Ragged-red muscle fibers Gastrointestinal dysmotility Cogwheel rigidity Reduced visual acuity Optic neuritis Renal insufficiency Edema Homonymous hemianopia Sensory ataxic neuropathy Progressive ophthalmoplegia Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Impaired distal proprioception Stooped posture Impaired distal vibration sensation Parkinsonism with favorable response to dopaminergic medication Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Abnormality of the cerebrospinal fluid Abnormal nerve conduction velocity Neuritis Weak voice Increased muscle fatiguability Positive Romberg sign Muscle fiber atrophy Hand muscle weakness Anal fistula



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