Irons-Bianchi Syndrome

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Irons-Bianchi Syndrome

Postby patoco » Mon Jun 22, 2009 9:28 am

Irons-Bianchi Syndrome

Synonyms: Irons-Bianchi Syndrome

Genetics: Believe to be an autosomal recessive syndrome


Very rare form of lymphedema that presents with both atrial septal defect and facial changes.

Atrial Sept Defect:

The septum is a wall that separates the heart's left and right sides. Septal defects are sometimes called a "hole" in the heart. A defect between the heart's two upper chambers (the atria) is called an atrial septal defect (ASD).
When there is a large defect between the atria, a large amount of oxygen-rich (red) blood leaks from the heart's left side back to the right side. Then this blood is pumped back to the lungs, despite already having been refreshed with oxygen. This is inefficient, because already-oxygenated blood displaces blood that needs oxygen. Many people with this defect have few, if any, symptoms. (1)

Complications of ASD can include Frequent respiratory infections in children, difficulty breathing (dyspnea), shortness of breath with activity and a sensation of feeling the heart beat.

Treatment for ASD may or may not require treatment. In the past the recommended treatment was surgical closer of the defect. However, a new procedure involves the intrduction of an ASD close device such as the Amplaytzer device. into the heart through catheters. A tiny incision is made in the groin to introduce the catheters. They are then advanced into the heart, where the closure devise is placed across the ASD and the defect is closed. (2)


Treatment would focus on symptoms/complications, for example manual decongestive therapy for the leg lymphedema with appropriate follow up with compression bandages and garments; surgery may be required to correct atrial septal defect.

Surgery also would be used to correct the hydrocele,


Symptoms include

Lymphedema of the legs

Atrial septal defect

Other symptoms/complications include:

hydrops fetalis, (Hydrops fetalis (ie, fetal hydrops) is a serious fetal condition defined as abnormal accumulation of fluid in 2 or more fetal compartments, including ascites, pleural effusion, pericardial effusion and skin edema. In some patients, it may also be associated with polyhydramnios and placental edema.)

omphalocele, (An omphalocele is a congenital (found at birth) malformation in which variable amounts of abdominal contents protrude into the base of the umbilical cord.)

polysplenia, (a congenital disease manifested by multiple small accessory spleens)

hydrocele (A hydrocele is a fluid-filled sac surrounding a testicle that results in swelling of the scrotum, the loose bag of skin underneath the penis. About one in 10 male infants has a hydrocele at birth, but most hydroceles disappear without treatment within the first year of life. Additionally, men — usually older than 40 — can develop a hydrocele due to inflammation or injury within the scrotum.)

epicanthal folds - face (The epicanthal fold is a small web of tissue overlapping the nasal corner of the eye. It is seen in both Asian and Occidental eyelids, but is much more common and distinctive in Asian eyelids, where it seems to be present to at least some degree in almost every patient.)

Pat O'Connor

June 2009

Codes and External Resources:


Q21 Congenital malformations of cardiac septa
Excludes: acquired cardiac septal defect ( I51.0 )

Q21.0 Ventricular septal defect
Q21.1 Atrial septal defect
Coronary sinus defect
Patent or persistent:
· foramen ovale
· ostium secundum defect (type II)
Sinus venosus defect
Q82 Other congenital malformations of skin
Excludes: acrodermatitis enteropathica ( E83.2 )
congenital erythropoietic porphyria ( E80.0 )
pilonidal cyst or sinus ( L05.- )
Sturge-Weber(-Dimitri) syndrome ( Q85.8 )

Q82.0 Hereditary lymphoedema



2008 ICD-9-CM Diagnosis 745.5
Ostium secundum type atrial septal defect
A combination of atrial septal defect and mitral stenosis.
745.5 is a specific code that can be used to specify a diagnosis
745.5 contains 50 index entries
View the ICD-9-CM Volume 1 745.* hierarchy
745.5 also known as:
atrium secundum
fossa ovalis
Lutembacher's syndrome
Patent or persistent:
foramen ovale
ostium secundum

2008 ICD-9-CM Diagnosis 757.0
Hereditary edema of legs
757.0 is a specific code that can be used to specify a diagnosis
757.0 contains 23 index entries
View the ICD-9-CM Volume 1 757.* hierarchy
757.0 also known as:
Congenital lymphedema
Hereditary trophedema
Milroy's disease

see also:

Lymphedema, Atrial Septal Defect, and facial changes ... defect.htm
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