Congestive heart failure, and Mitral valve prolapse

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

• Congestive heart failure
• Mitral valve prolapse
• Mitral regurgitation

SOURCES: MESH OMIM MENDELIAN

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

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

SOURCES: MESH OMIM MENDELIAN

Medium match ATRIAL SEPTAL DEFECT 4; ASD4

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

SOURCES: OMIM MESH MENDELIAN

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

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

SOURCES: OMIM MESH MENDELIAN

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

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

SOURCES: OMIM MENDELIAN

Medium match CLASSIC MULTIMINICORE MYOPATHY

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

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

SOURCES: ORPHANET MENDELIAN

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

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

SOURCES: MESH ORPHANET MENDELIAN

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

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

SOURCES: MESH OMIM ORPHANET MENDELIAN

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

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

SOURCES: OMIM ORPHANET MENDELIAN

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

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

SOURCES: ORPHANET OMIM MENDELIAN