Atrial Septal Defect

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
Copyright © 1966-2004 Johns Hopkins University

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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Atrial Septal Defect Clinical Resources

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Apical hypertrophic cardiomyopathy and atrial septal defect: Part of a multi-organ syndrome?

Pattoneri P, Pela G, Astorri E, Borghetti A.

Department of Internal Medicine, Nephrology and Health Sciences, University of Parma, Via Gramsci 14, 43100, Parma, Italy.

AIM:

We describe a case of non-obstructive apical hypertrophic cardiomyopathy with atrial septal defect, in a 48-year-old caucasian female patient with chronic renal failure, hypothyroidism and primary amenorrhea, referred to our hospital for syncope, palpitation and shortness of breath.

METHODS AND RESULTS:

Electrocardiogram, transthoracic echocardiogram and cardiac magnetic resonance showed classical features of apical hypertrophic cardiomyopathy. Apical hypertrophic cardiomyopathy is morphologically characterized by apical ventricular hypertrophy, and is reported to be a relatively benign prognosis compared with the other type of hypertrophic cardiomyopathy.

CONCLUSION:

Apical hypertrophic cardiomyopathy is very rare in the West, is occasionally encountered in Japanese persons, but there have been only a few reports of its coexistence with atrial septal defect. Our present report is the first case of apical hypertrophic cardiomyopathy with atrial septal defect associated with renal failure, hypothyroidism and primary amenorrhea that could represent a multi-organ syndrome. This hypothesis was supported by the finding of the same characteristics in a sister of the patient.

PMID: 16542879 [PubMed - as supplied by publisher]

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Congenital heart diseases and other major anomalies in patients with Down syndrome.