Congestive heart failure, and Mitral valve prolapse

Diseases related with Congestive heart failure and Mitral valve prolapse

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


Top matches:

Medium match MITRAL VALVE PROLAPSE 2; MVP2


Patients with MVP2 have nonsyndromic MVP of variable severity inherited as an autosomal dominant trait.For a general phenotypic description and discussion of genetic heterogeneity of mitral valve prolapse, see MVP1 (OMIM ).

MITRAL VALVE PROLAPSE 2; MVP2 Is also known as myxomatous mitral valve prolapse 2|mitral valve prolapse, myxomatous 2|mmvp2

Related symptoms:

  • Congestive heart failure
  • Mitral valve prolapse
  • Mitral regurgitation


SOURCES: MESH OMIM MENDELIAN

More info about MITRAL VALVE PROLAPSE 2; MVP2

Medium match CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1


X-linked cardiac valvular dysplasia is a rare X-linked form of heart disease characterized by mitral and/or aortic valve regurgitation. Only males have been diagnosed as affected, while carrier females are asymptomatic. The histologic features do not differ from the common severe and idiopathic mitral valve prolapse.

CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1 Is also known as valvular heart disease, congenital|xmvd|myxomatous valvular dystrophy, x-linked

Related symptoms:

  • Edema
  • Congestive heart failure
  • Abnormality of metabolism/homeostasis
  • Mitral valve prolapse
  • Mitral regurgitation


SOURCES: MESH OMIM MENDELIAN

More info about CARDIAC VALVULAR DYSPLASIA, X-LINKED; CVD1

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

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Other less relevant matches:

Medium match SICK SINUS SYNDROME 2; SSS2


SICK SINUS SYNDROME 2; SSS2 Is also known as atrial fibrillation with bradyarrhythmia|sick sinus syndrome 2 with or without cardiac noncompaction and/or ascending aorta dilation|sinus node disease, familial, autosomal dominant|sinus bradycardia syndrome, familial, autosomal dominant

Related symptoms:

  • Intellectual disability
  • Brachydactyly
  • Fatigue
  • Congestive heart failure
  • Abnormality of cardiovascular system morphology


SOURCES: OMIM MESH MENDELIAN

More info about SICK SINUS SYNDROME 2; SSS2

Medium match CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2


Related symptoms:

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Congestive heart failure
  • Abnormal heart morphology


SOURCES: OMIM MENDELIAN

More info about CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2; CHTD2

Medium match CLASSIC MULTIMINICORE MYOPATHY


CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

Medium match CAP MYOPATHY


Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

Medium match FAMILIAL ATRIAL MYXOMA


Familial atrial myxoma is a rare, genetic cardiac tumor characterized by the presence of a primary, benign, gelatinous mass located in the atria and composed of primitive connective tissue cells and stroma (resembling mesenchyme) in several members of a family. Clinical presentation depends on the size, mobility and location of tumor, ranging from nonspecific and/or constitutional symptoms to sudden cardiac death, and includes dyspnea, hemoptisis, syncope, fatigue, fever, cutaneous rash, increases in venous pressure and/or peripheral edema.

FAMILIAL ATRIAL MYXOMA Is also known as atrial myxoma, familial

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Fever
  • Atrial septal defect
  • Congestive heart failure


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FAMILIAL ATRIAL MYXOMA

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 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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Mitral valve prolapse

Symptoms // Phenotype % cases
Mitral regurgitation Uncommon - Between 30% and 50% cases
Aortic regurgitation Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Tricuspid regurgitation Cardiomyopathy Atrial fibrillation

Rare Symptoms - Less than 30% cases


Abnormality of skin pigmentation Pulmonary edema Striae distensae Thromboembolism Ischemic stroke Chest pain Pes planus Short stature Generalized hypotonia Scoliosis Dilatation Poor head control Generalized amyotrophy Pectus excavatum Easy fatigability Endocarditis Long face Ventricular septal defect Abnormality of the cardiovascular system Syncope Abnormal heart morphology Growth delay Mitral stenosis Intellectual disability Hypertension Abnormality of cardiovascular system morphology Bacterial endocarditis Sudden cardiac death Joint hyperflexibility Tachycardia Skin rash Macular degeneration Stroke Small for gestational age Papule Pruritus Pulmonic stenosis Broad forehead Nephrocalcinosis Bruising susceptibility Postural instability Gastrointestinal hemorrhage Retinopathy Cerebral calcification Blue sclerae Myocardial infarction Subcutaneous nodule Abnormality of the skin Disproportionate tall stature Scarring Visual impairment Dental crowding Abnormal heart valve morphology Supraventricular tachycardia Tricuspid valve prolapse Asthenia Mastoiditis Atherosclerosis Reversed usual vertebral column curves Limb undergrowth Hypothyroidism Myopia Intrauterine growth retardation Convex nasal ridge Small hand Blindness High, narrow palate Renal insufficiency Visual loss Reduced visual acuity Quadricuspid aortic valve Abnormal retinal morphology Cutis laxa Vascular calcification Ectopic calcification Choroidal neovascularization Abnormal endocardium morphology Retinal hemorrhage Intermittent claudication Angioid streaks of the fundus Metamorphopsia Renovascular hypertension Abnormality of connective tissue Civatte bodies Accelerated atherosclerosis Subcutaneous calcification Excessive wrinkled skin Arterial calcification Hyperkeratotic papule Localized skin lesion Generalized arterial calcification Medial calcification of large arteries Peripapillary chorioretinal atrophy Peau d'orange Subretinal fluid Erythematous papule Premature occlusive vascular stenosis Medial calcification of medium-sized arteries Abnormal atrioventricular valve morphology Pulmonary insufficiency Arteriosclerosis Hyperextensible skin Telangiectasia of the skin Redundant skin Intracranial hemorrhage Abnormality of the thorax Acne Hemiplegia/hemiparesis Cutis marmorata Coronary artery atherosclerosis Hypermelanotic macule Intellectual disability, moderate Chorioretinal atrophy Multiple lipomas Severe vision loss Arterial stenosis Severe intrauterine growth retardation Abnormality of the mouth Thickened nuchal skin fold Drusen Abnormality of the cerebral vasculature Peripheral arterial stenosis Angina pectoris Lack of skin elasticity Restrictive cardiomyopathy Redundant neck skin Abnormal thrombocyte morphology Abnormal mitral valve morphology Short philtrum Subarachnoid hemorrhage Hypertrophic cardiomyopathy High pitched voice Pulmonary artery atresia Subvalvular aortic stenosis Myxomatous mitral valve degeneration Failure to thrive Mandibular prognathia Hip dysplasia Microretrognathia Delayed gross motor development Congenital muscular dystrophy Multiple joint contractures Spinal rigidity Bicuspid aortic valve Right ventricular hypertrophy Restrictive deficit on pulmonary function testing Axial muscle weakness Muscle fiber atrophy Right ventricular failure Nocturnal hypoventilation Increased muscle lipid content Limited neck flexion Weakness of facial musculature Intermittent episodes of respiratory insufficiency due to muscle weakness Aortic aneurysm Aortic valve stenosis Muscle weakness Vertigo Abnormality of metabolism/homeostasis Short chordae tendineae of the mitral valve Short chordae tendineae of the tricuspid valve Dilated cardiomyopathy Coarctation of aorta Pulmonary arterial hypertension Patent foramen ovale Endocardial fibroelastosis Brachydactyly Fatigue Ventricular hypertrophy Hydrops fetalis Palpitations Left ventricular hypertrophy Bradycardia Cardiac arrest Atrioventricular block Ventricular fibrillation Ventricular extrasystoles Sinus bradycardia Left ventricular noncompaction Sick sinus syndrome Tetralogy of Fallot Absent muscle fiber merosin Motor delay Joint laxity Edema of the lower limbs Coma Ascites Cardiomegaly Cholestasis Neoplasm of the skin Heart murmur Cerebral hemorrhage Exertional dyspnea Dilatation of the cerebral artery Growth hormone excess Orthopnea Jaundice Increased inflammatory response Cardiac myxoma Pulmonic valve myxoma Micrognathia Pain Long philtrum Posteriorly rotated ears Upslanted palpebral fissure Dyspnea Thin upper lip vermilion Confusion Headache Myopathy Difficulty running Facial palsy Lower limb muscle weakness Lumbar hyperlordosis Frequent falls Reduced tendon reflexes Nasal speech Gowers sign Toe walking Increased variability in muscle fiber diameter Difficulty climbing stairs Thoracic scoliosis Behavioral abnormality Aortic root aneurysm Lower limb amyotrophy Central hypoventilation Pes valgus Sinus tachycardia Abnormality of muscle fibers Reduced systolic function Fatiguable weakness of proximal limb muscles Seizures Cognitive impairment Fever Medial calcification of small arteries



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