Rare cardiac defect in Holt-Oram syndrome.

[holt-oram syndrome]

Holt-Oram syndrome is an autosomal dominant condition associated with skeletal malformations of the upper limbs , and congenital heart disease . Approximately 40 % of cases represent new mutations . Defective development of the embryonic radial ray (e .g . aplasia , hypoplasia , fusion , other anomalous development ) results in a wide spectrum of phenotypes , including triphalangeal or absent thumbs , foreshortened arms and phocomelia . The syndrome is associated with defective development of cardiac structures that results in atrial septal defect (ASD ), most commonly the secundum type , heart block of varying degrees , or both . We report a rare cardiac defect patent ductus arteriosus (PDA ) and ventricular septal defect (VSD ) in a case of Holt-Oram syndrome .

Diseases
Validation

Diseases presenting "wide spectrum" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

allergic bronchopulmonary aspergillosis

canavan disease

classical phenylketonuria

focal myositis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

monosomy 21

neonatal adrenoleukodystrophy

oligodontia

primary hyperoxaluria type 1

proteus syndrome

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

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