Entry - %212130 - CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH - OMIM

 
 
% 212130

CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH


Clinical Synopsis
 

Cardiac
- Asymmetric septal hypertrophy
- Cardiomyopathy
Muscle
- Myopathy
Inheritance
- Autosomal recessive
▲ Close

▼ TEXT

Fried et al. (1979) described a Sephardic kindred in which several children had died in the second year of life. The proband showed asymmetric septal hypertrophy by echocardiography. A mild and often subclinical myopathy was present. The affected children were in 2 sibships and both sets of parents were first cousins. On echocardiography 1 of the 4 parents had findings consistent with asymmetric septal hypertrophy.


▼ REFERENCES

  1. Fried, K., Beer, S., Vure, E., Algom, M., Shapira, Y. Autosomal recessive sudden unexpected death in children probably caused by a cardiomyopathy associated with myopathy. J. Med. Genet. 16: 341-346, 1979. [PubMed: 513079, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/3/1986
Edit History:
alopez : 03/18/2004
mimadm : 2/19/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/3/1986

% 212130

CARDIOMYOPATHY ASSOCIATED WITH MYOPATHY AND SUDDEN DEATH



TEXT

Fried et al. (1979) described a Sephardic kindred in which several children had died in the second year of life. The proband showed asymmetric septal hypertrophy by echocardiography. A mild and often subclinical myopathy was present. The affected children were in 2 sibships and both sets of parents were first cousins. On echocardiography 1 of the 4 parents had findings consistent with asymmetric septal hypertrophy.


REFERENCES

  1. Fried, K., Beer, S., Vure, E., Algom, M., Shapira, Y. Autosomal recessive sudden unexpected death in children probably caused by a cardiomyopathy associated with myopathy. J. Med. Genet. 16: 341-346, 1979. [PubMed: 513079] [Full Text: https://doi.org/10.1136/jmg.16.5.341]


Creation Date:
Victor A. McKusick : 6/3/1986

Edit History:
alopez : 03/18/2004
mimadm : 2/19/1994
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988
reenie : 6/3/1986



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: June 9, 2024