Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: A case report

  • Authors:
    • Ksenija Gersak
    • Marusa Strgulc
    • Vojka Gorjup
    • Zvezdana Dolenc-Strazar
    • Vesna Jurcic
    • Daniel J. Penny
    • Yuxin Fan
  • View Affiliations

  • Published online on: September 5, 2013     https://doi.org/10.3892/mmr.2013.1669
  • Pages: 1311-1314
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


Abstract

Malouf syndrome is a rare congenital disorder involving the heart, genitalia, skin and skeletal characteristics. In the present study, we report on the sporadic case of a young female with dilated cardiomyopathy, hypergonadotropic hypogonadism, a small chin, bilateral blepharoptosis, marfanoid elongated fingers and hypothyroidism. Malouf syndrome may be caused by heterozygous mutations in the lamin A/C (LMNA) gene. Genetic analyses and autopsy were performed. In spite of the patient's features, sequence analysis of the coding region of the LMNA gene including exon‑intron boundaries identified only one benign polymorphism: homozygous silent variant 1698C>T (H566). There is a possibility that the sequence analysis may have not detected intronic mutations or mutations in portions of the 5'- and 3'-untranslated regions, which would confirm the clinical diagnosis.
View Figures
View References

Related Articles

Journal Cover

November 2013
Volume 8 Issue 5

Print ISSN: 1791-2997
Online ISSN:1791-3004

Sign up for eToc alerts

Recommend to Library

Copy and paste a formatted citation
x
Spandidos Publications style
Gersak K, Strgulc M, Gorjup V, Dolenc-Strazar Z, Jurcic V, Penny DJ and Fan Y: Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: A case report. Mol Med Rep 8: 1311-1314, 2013.
APA
Gersak, K., Strgulc, M., Gorjup, V., Dolenc-Strazar, Z., Jurcic, V., Penny, D.J., & Fan, Y. (2013). Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: A case report. Molecular Medicine Reports, 8, 1311-1314. https://doi.org/10.3892/mmr.2013.1669
MLA
Gersak, K., Strgulc, M., Gorjup, V., Dolenc-Strazar, Z., Jurcic, V., Penny, D. J., Fan, Y."Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: A case report". Molecular Medicine Reports 8.5 (2013): 1311-1314.
Chicago
Gersak, K., Strgulc, M., Gorjup, V., Dolenc-Strazar, Z., Jurcic, V., Penny, D. J., Fan, Y."Dilated cardiomyopathy and ovarian dysgenesis in a patient with Malouf syndrome: A case report". Molecular Medicine Reports 8, no. 5 (2013): 1311-1314. https://doi.org/10.3892/mmr.2013.1669