Noncompaction cardiomyopathy genetics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Noncompaction cardiomyopathy can appear sporadically or can be familial. Although mutations responsible for the sporadic cases have not been identified, several mutations that appear responsible for the familial transmission have been identified[1] . 18% [2] to 50%[3] of family members are affected. There is predominantly an autosomal dominant mode of inheritance. There are more males with NCC than females which suggests a X linked pattern of inheritance in some patients. Noncompaction of ventricular myocardium was recently included in the 2006 classification of cardiomyopathies as a genetic cardiomyopathy [4].

Patterns of Inheritance

The majority of the time the pattern of inheritance is autosomal dominant. In some families, the mode of transmission appears to be x-linked[5] or via mitochondrial transmission.

Genes Involved

Several potential genetic abnormalities have been identified:

References

  1. Zambrano E, Marshalko SJ, Jaffe CC, et al. Isolated noncompaction of the ventricular myocardium: clinical and molecular aspects of a rare cardiomyopathy. Lab Invest. 2002; 82: 117–122.
  2. Oechslin EN, Attenhofer Jost CH, Rojas JR, et al. Long-term follow-up of 34 adults with isolated left ventricular noncompaction: a distinct cardiomyopathy with poor prognosis. J Am Coll Cardiol. 2000; 36: 493–500.
  3. Chin TK, Perloff JK, Williams RG, et al. Isolated noncompaction of left ventricular myocardium: a study of eight cases. Circulation. 1990; 82: 507–513.
  4. Maron, Barry.; Towbin, Jeffrey.; Thiene, Gaetano; Antzelevitch, Charles; Corrado, Domenico. (2006). "Contemporary Definitions and Classification of the Cardiomyopathies" (webpage). American Heart Association Journals. American Heart Association t. 113 (14). 113:1807-1816.
  5. Bleyl SB, Mumford BR, Brown-Harrison MC, et al. Xq28-linked noncompaction of the ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet. 1997; 72:257–265.
  6. Ichida F, Tsubata S, Bowles KR, et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 2001; 103: 1256–1263.
  7. Bleyl SB, Mumford BR, Brown-Harrison MC, et al. Xq28-linked noncompaction of the ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet. 1997; 72:257–265.
  8. Pauli RM, Scheib-Wixted S, Cripe L, et al. Ventricular noncompaction and distal chromosome 5q deletion. Am J Med Genet. 1999; 85: 419–423.


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