Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2015 Apr 7:2015:16.
doi: 10.5339/gcsp.2015.16. eCollection 2015.

Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?

Nawel Jaafar  1 , Francesca Girolami  2 , Ihsen Zairi  3 , Sondes Kraiem  3 , Mohamed Hammami  1 , Iacopo Olivotto  4
Affiliations

Genetic profile of hypertrophic cardiomyopathy in Tunisia: Is it different?

Nawel Jaafar et al. Glob Cardiol Sci Pract. .

Abstract

We recently performed next generation sequencing (NGS) genetic screening in 11 consecutive and unrelated Tunisian HCM probands seen at Habib Thameur Hospital in Tunis in the first 6 months of 2014, as part of a cooperative study between our Institutions. The clinical diagnosis of HCM was made according to standard criteria. Using the Illumina platform, a panel of 12 genes was analyzed including myosin binding protein C (MYBPC3), beta-myosin heavy chain (MYH7), regulatory and essential light chains (MYL2 and MYL3), troponin-T (TNNT2), troponin-I (TNNI3), troponin-C (TNNC1), alpha-tropomyosin (TPM1), alpha-actin (ACTC1), alpha-actinin-2 (ACTN2) as well as alfa-galactosidase (GLA), 5'-AMP-activated protein (PKRAG2), transthyretin (TTR) and lysosomal-associated membrane protein-2 (LAMP2) for exclusion of phenocopies. Our preliminary data, despite limitations inherent to the small sample size, suggest that HCM in Tunisia may have a peculiar genetic background which privileges rare genes overs the classic HCM-associated MHY7 and MYBPC3 genes.

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Phenotypic spectrum. Morphologic features ranged from massive (A) to mild (B) LVH, to mid-ventricular obstruction (C-arrow) and apical aneurysm (asterisk) to classic septal LVH with dynamic LV outflow obstruction.
Figure 2.
Figure 2.
Pedigree of patient 8 (arrow), showing autosomal dominant transmission of HCM and prevalence of sudden cardiac death (asterisks).
See this image and copyright information in PMC

References

    1. Maron BJ, Ommen SR, Semsarian C, Spirito P, Olivotto I, Maron MS. Hypertrophic cardiomyopathy: present and future, with translation into contemporary cardiovascular medicine. J Am Coll Cardiol. 2014;8;64(1):83–99. - PubMed
    1. Kassem HSh, Azer RS, Saber-Ayad M, Moharem-Elgamal S, Magdy G, Elguindy A, Cecchi F, Olivotto I, Yacoub MH. Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program. J Cardiovasc Transl Res. 2013;6(1):65–80. - PMC - PubMed
    1. Falase AO, Ogah OS. Cardiomyopathies and myocardial disorders in Africa: present status and the way forward. Cardiovasc J Afr. 2012;23(10):552–562. - PMC - PubMed
    1. Allouche M, Boudriga N, Ahmed HB, Banasr A, Shimi M, Gloulou F, Zhioua M, Bouhajja B, Baccar H, Hamdoun M. Sudden death during sport activity in Tunisia: autopsy study in 32 cases. Ann Cardiol Angeiol (Paris) 2013;62(2):82–88. - PubMed
    1. Maron MS. My approach to clinical management of hypertrophic cardiomyopathy. Trends Cardiovasc Med. 2014;24(7):314–315. - PubMed

LinkOut - more resources