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Asymmetric septal hypertrophy in a large Amish kindred
Author(s) -
Bingle J.,
Dillon James,
Hurwitz Roger
Publication year - 1975
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1975.tb00327.x
Subject(s) - daughter , muscle hypertrophy , expressivity , genetics , medicine , presentation (obstetrics) , pediatrics , biology , endocrinology , surgery , evolutionary biology
We report a large Amish kindred in which asymmetric septal hypertrophy (ASH) appeared to segregate as an autosomal dominant gene. This kindred was ascertained through a 3–month‐old infant and her father. The striking differences between father and daughter regarding clinical presentation and course exemplify the variable expressivity of this condition. The importance of genetic factors in diagnosis and counseling are discussed. Previous reports of ASH in infants and children are reviewed.