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Heart-hand syndromes are a group of rare diseases that manifest with both heart and limb deformities. [1] [2] [3] [4]As of July 2013, known heart-hand syndromes include Holt–Oram syndrome, Berk–Tabatznik syndrome, brachydactyly-long thumb syndrome, patent ductus arteriosus-bicuspid aortic valve syndrome, heart hand syndrome, Slovenian type and Heart-hand syndrome, Spanish type.
Heart-hand syndrome, Slovenian type; Other names: Slovenian type heart-hand syndrome: Images showing the characteristic small hands associated with this condition next to normal hands (lower left), mutation in the LMNA gene involved in the condition (lower right), pedigree of a family with Heart-hand syndrome, Slovenian type showing autosomal dominant inheritance (entire upper portion of image).
Holt–Oram syndrome (also called atrio-digital syndrome, atriodigital dysplasia, cardiac-limb syndrome, heart-hand syndrome type 1, HOS, ventriculo-radial syndrome) is an autosomal dominant disorder that affects bones in the arms and hands (the upper limbs) and often causes heart problems. [1]
Heart-hand syndrome, Spanish type, also known as heart-hand syndrome type 3 or III, is a very rare genetic disorder which is characterized by heart, hand, and sometimes feet abnormalities. It is a type of heart-hand syndrome, [2] a class of genetic disorders characterized by cardiac malformations and hand malformations. Only one family with the ...
Congenital heart problems e.g. pulmonary artery stenosis (common), Tetralogy of Fallot, overriding aorta, ventricular septal defect; and right ventricular hypertrophy. Liver (jaundice, pruritus, hepatosplenomegaly, acholia, xanthoma) Andersen–Tawil syndrome: This condition affects the QT interval (in blue) Antley–Bixler syndrome: Barth syndrome
Cardiomyopathy is a group of primary diseases of the heart muscle. [1] Early on there may be few or no symptoms. [1] As the disease worsens, shortness of breath, feeling tired, and swelling of the legs may occur, due to the onset of heart failure. [1] An irregular heart beat and fainting may occur. [1]
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