Lymphedema, Atrial Septal Defect, and facial changes

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Synonyms: Irons-Bianchi Syndrome

Genetics: Believe to be an autosomal recessive syndrome

Discussion:

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:

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:

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

May 29, 2008

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Clinical Information and Articles

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601927	Links
LYMPHEDEMA, CARDIAC SEPTAL DEFECTS, AND CHARACTERISTIC FACIES

Alternative titles; symbols
IRONS-BIANCHI SYNDROME
LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND CHARACTERISTIC FACIES

TEXT

Irons et al. (1996) reported 2 brothers with lymphedema of the lower limbs, hydrocele, atrial septal defects (ASD), epicanthus, and wide nasal bridge. Their stillborn sister, who was born after a pregnancy complicated by preeclampsia, had severe hydrops fetalis, omphalocele, ASD, and polysplenia. The family history was unremarkable. Irons et al. (1996) considered this complex to be a previously unknown syndrome with autosomal recessive inheritance.

Van Steensel et al. (2007) described a 3-year-old Dutch girl with features similar to those in the patients reported by Irons et al. (1996). She was born prematurely at 35 weeks with a dizygotic twin sister. The parents were nonconsanguineous and 3 sibs were healthy. During pregnancy, fetal hydrops was detected from weeks 16 to 20. At birth, she was noted to have bilateral swelling of the lower legs consistent with lymphedema. She also had atrial flutter, a large perimembranous ventricular septal defect with significant left/right shunting, a secundum type atrial septal defect type II, and an overriding aorta with vascular ring. At age 2 months, the ventricular septal defect was closed, the vascular ring corrected, and an aortopexia was performed. Progressive bilateral lower leg lymphedema was noted at 3 years of age. Physical examination at that time revealed nonpitting edema of the toes, feet, and lower legs. Her face showed epicanthal folds, flat nasal bridge with telecanthus, and a high forehead. Lymphoscintigraphy revealed complete absence of lymph drainage in both lower legs. Karyotype was normal 46,XX, and a 22q11 deletion was excluded by FISH. Analysis of several genes known to be involved in syndromes with lymphedema detected no pathogenic mutations.

REFERENCES

1. Irons, M. B.; Bianchi, D. W.; Geggel, R. L.; Marx, G. R.; Bhan, I. :: Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes. Am. J. Med. Genet. 66: 69-71, 1996.
PubMed ID : 8957515

2. van Steensel, M. A. M.; van Geel, M.; Schrander-Stumpel, C.; Steijlen, P. M.; Veraart, J. C. J. M. :: Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome. Am. J. Med. Genet. 143A: 2448-2451, 2007.

CONTRIBUTORS

Kelly A. Przylepa - updated : 4/8/2008
Iosif W. Lurie - updated : 8/5/1997

CREATION DATE

Iosif W. Lurie : 7/29/1997

EDIT HISTORY

carol : 5/8/2008
carol : 4/8/2008
jenny : 8/5/1997

OMIM

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LYMPHEDEMA, ATRIAL SEPTAL DEFECT, AND FACIAL CHANGES

TEXT

Irons et al. (1996) reported 2 brothers with association of lymphedema of the lower limbs, hydrocele, atrial septal defects (ASD), epicanthus, and wide nasal bridge. Their stillborn sister, who was born after a pregnancy complicated by preeclampsia, had severe hydrops fetalis, omphalocele, ASD, and polysplenia. The family history was unremarkable. Irons et al. (1996) considered this complex to be a previously unknown syndrome with autosomal recessive inheritance.

REFERENCES

1. Irons, M. B.; Bianchi, D. W.; Geggel, R. L.; Marx, G. R.; Bhan, I. :: Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes. Am. J. Med. Genet. 66: 69-71, 1996.
PubMed ID : 8957515

CONTRIBUTORS

Iosif W. Lurie - updated : 8/5/1997

CREATION DATE

Iosif W. Lurie : 7/29/1997

EDIT HISTORY

jenny : 8/5/1997

PubMed

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Possible new autosomal recessive syndrome of lymphedema, hydroceles, atrial septal defect, and characteristic facial changes.

Irons MB, Bianchi DW, Geggel RL, Marx GR, Bhan I.

Department of Pediatrics, Floating Hospital for Children, New England Medical Center, Boston, Massachusetts, USA.

We describe two brothers with congenital lymphedema of lower limbs, atrial septal defect (ASD), and similar facial appearance. A sister had severe hydrops fetalis, ASD, omphalocele, and other anomalies. This combination of congenital lymphedema and ASD differs from other reported cases of congenital lymphedema and most likely constitutes a previously unrecognized autosomal recessive syndrome.

Publication Types:

Case Reports

PMID: 8957515 [PubMed - indexed for MEDLINE]

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Lymphedema, cardiac septal defects, and characteristic facies: possible new case of Irons-Bianchi syndrome.

Am J Med Genet A. 2007 Oct 15

van Steensel MA, van Geel M, Schrander-Stumpel C, Steijlen PM, Veraart JC.

Department of Dermatology, University Hospital Maastricht, Maastricht, The Netherlands. mvst@sder.azm.nl

We describe a Dutch girl with fetal hydrops, congenital lymphedema of the lower legs, complex congenital cardiac malformation, and a typical face with epicanthal folds. This particular combination of symptoms has been previously described by Irons and Bianchi in 1996. Our report confirms their observation and suggests that this particular constellation of symptoms may constitute a new syndrome. Molecular analysis confirms this statement by demonstrating absence of mutations in several genes known to be involved in syndromes with lymphedema.

Wiley InterScience

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Atrial Septal Defect Clinical Resources

http://cchs-dl.slis.ua.edu/clinical/cardiology/congenital/asd.html

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Codes and External Resources:

ICD-10
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

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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

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ICD-9

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:

Defect:
- atrium secundum
- fossa ovalis
Lutembacher's syndrome
Patent or persistent:
- foramen ovale
- ostium secundum

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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

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OMIM: #601927 - Lymphedema Atrial Septal Defect and facial changes

OMIM #108800 - Atrial Septal Defect 1; ASD1

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References:

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Medline Plus (1)

Atrial Septal Defect (ASD) - American Heart Association

Atrial Septal Defect - EMedicine

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