[Genetic and congenital heart defects].

[holt-oram syndrome]

The understanding of the etiology of congenital heart disease is rapidly progressing from the recognition of embryologic origins to insight into the genetic basis for these disorders . Better understanding of the clinical implications of specific mutations should allow not only for more sensitive and specific diagnoses to be made but also for improvements in therapeutics options an efficacy . Mutations in the T -box transcription factor TBX 5 cause Holt-Oram syndrome , an autosomal-dominant condition characterized by a familial history of congenital heart disease and upper limb defects . This review summarizes recent developments in the study of Holt -Oram Syndrome .

Diseases
Validation

Diseases presenting "heart disease" symptom

22q11.2 deletion syndrome

achondroplasia

acute rheumatic fever

adrenal incidentaloma

child syndrome

classical phenylketonuria

cohen syndrome

congenital diaphragmatic hernia

dentinogenesis imperfecta

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

monosomy 21

omenn syndrome

phenylketonuria

sneddon syndrome

systemic capillary leak syndrome

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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