Existing users Log In New users Sign up

Familial restrictive cardiomyopathy – case report

DISCOVERIES (ISSN 2359-7232), 2019, July-September issue


Neagoe O, Ciobanu A, Diaconu R, Mirea O, Donoiu I, Militaru C. A rare case of familial restrictive cardiomyopathy with mutations in MYH7 and ABCC9 genes. Discoveries 2019, 7(3): e99. DOI: 10.15190/d.2019.12

Submitted: August 28th, 2019; Revised: September 26th, 2019; Accepted: September 29th, 2019; Published: September 30th, 2019; 

 GO BACK to 2019, July-September issue


A rare case of familial restrictive cardiomyopathy with mutations in MYH7 and ABCC9 genes

Oana Neagoe (1), Anda Ciobanu (1), Rodica Diaconu (1), Oana Mirea (2), Ionuţ Donoiu (2,*), Constantin Militaru (2)

(1) Department of Cardiology, Emergency County Hospital, Craiova, Romania
(2) Department of Cardiology, University of Medicine and Pharmacy of Craiova, Romania

*Corresponding author: Ionuț Donoiu, MD, PhD, University of Medicine and Pharmacy of Craiova, Department of Cardiology, Petru Rareș Street no. 2, Craiova, 200349, Romania; Phone: +40746126669; Fax: +40251426688; Email: ionut.donoiu@umfcv.ro


Restrictive cardiomyopathy is the least common type of cardiomyopathy, being defined by diastolic dysfunction and often unimpaired systolic function. Restrictive cardiomyopathies can be classified as familial or non-familial. Patients with familial restrictive cardiomyopathy can develop signs and symptoms of this condition anytime from childhood to adulthood. The evolution of the disease is towards signs and symptoms of pulmonary and systemic congestion and, without treatment, there is a five-year mortality rate of approximately 30% in these patients. We discuss the case of a 43-year-old patient diagnosed with familial restrictive cardiomyopathy with positive genetic tests for mutations of MYH7 gene and ABCC9 gene, who was first hospitalized in 2011 for palpitations. The echocardiography performed in evolution showed a continuous alteration of right ventricle function, without important differences of left ventricular function.  She developed heart failure symptoms six years after diagnosis and she had seven hospitalizations in the past two years, currently with an increasing need of diuretics and persistent hepatic dysfunction. Cardiac transplantation or left ventricular assist device therapy should be considered in patients with severe heart failure symptoms and no longer effective treatment. However, elevated pulmonary vascular resistance excludes the patient from cardiac transplantation.

Access full text of the manuscript here: 


1. Zipes DP, Libby P, Bonow RO, Braunwald E. Braunwald's Heart Disease. 7th edition. Elsevier Saunders, 2005. Pp: 1682-1690.

2. Ginghina C (ed). Mic tratat de cardiologie. Editura Academiei Române. 2007. Pp: 427-452.

3. Elliott P, Andersson B, Arbustini E, et al. Classification of the cardiomyopathies: a position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur Heart J. 2008; 29(2):270-6.

4. Kaski JP, Syrris P, Burch M, et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart. 2008; 94(11):1478−84.

5. Habib G,  Bucciarelli-Ducci C,  Caforio ALP,  et al. Multimodality Imaging in Restrictive Cardiomyopathies: An EACVI expert consensus document In collaboration with the "Working Group on myocardial and pericardial diseases" of the European Society of Cardiology Endorsed by The Indian Academy of Echocardiography. Eur Heart J Cardiovasc Imaging. 2017; 18(10):1090−121.

6. Mogensen J, Arbustini E. Restrictive cardiomyopathy. Curr Opin Cardiol. 2009; 24(3):214−20.

7. Nihoyannopoulos P, Dawson D. Restrictive cardiomyopathies. Eur J Echocardiogr. 2009; 10(8):iii23-33. 

8. Sen-Chowdhry S, Syrris P, McKenna WJ. Genetics of restrictive cardiomyopathy. Heart Fail Clin. 2010; 6(2):179−86.

9. Xu Q, Dewey S, Nguyen S, Gomes AV. Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes. J Mol Cell Cardiol. 2010; 48(5):899−909.

10. Armel TZ, Leinwand LA. Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms. Proc Natl Acad Sci U S A. 2009; 106(15):6291−6.

11. Marston SB. How do mutations in contractile proteins cause the primary familial cardiomyopathies? J Cardiovasc Transl Res. 2011; 4(3):245−55.

12. Oldfors A. Hereditary myosin myopathies. Neuromuscul Disord. 2007; 17(5):355−67.

13. Pegoraro E, Gavassini BF, Borsato C, et al. MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy. Neuromuscul Disord. 2007; 17(4):321−9.

14. Van Driest SL, Jaeger MA, Ommen SR, et al. Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy. J Am Coll Cardiol. 2004; 44(3):602.

15. van der Linde IHM, Hiemstra YL, Bokenkamp R, et al. A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects. Neth Heart J. 2017; 25(12):675−81.

16. Hershberger RE, Hedges DJ, Morales A. Dilated cardiomyopathy: the complexity of a diverse genetic architecture. Nat Rev Cardiol. 2013; 10:531–47.

17. Bollen IAE, van der Velden J. The contribution of mutations in MYH7 to the onset of cardiomyopathy. Neth Heart J. 2017; 25(12):653-4.

18. Ammash NM, Seward JB, Bailey KR, et al. Clinical profile and outcome of idiopathic restrictive cardiomyopathy. Circulation. 2000; 101(21):2490−6.

19. Comenzo RL.  Amyloidosis. Curr Treat Options Oncol. 2006; 7(3):225−36.

20. Bograd AJ, Mital S, Schwarzenberger JC, et al. Twenty-year experience with heart transplantation for infants and children with restrictive cardiomyopathy: 1986-2006. Am J Transplant. 2008; 8(1):201−7.

21. Leviner DB, Hochhauser E, Arad M. Inherited cardiomyopathies--novel therapies. Pharmacol Ther. 2015; 155:36−48.

22. Miller LW, Guglin M. Evaluation of ventricular assist devices and cardiac transplantation. In: Baliga R, Haas G, eds. Management of Heart Failure. London, UK: Springer-Verlag; 2015.

News & Events Latest news from Discoveries

  • 2022, April| AWARDS!

    2022 Discoveries Award winning articles!

    - Kinal Bhatt et al. 2021 (Larking Health System, FL, USA); Bhatt K, Agolli A, Patel MH, et al. High mortality co-infections of COVID-19 patients: mucormycosis and other fungal infections. Discoveries. 2021;9(1):e126. 
    27 citations in the past 1 year - $1000 prize

    - Hasnain Jan et al. 2020 (Quaid-i-Azam University, Pakistan); Jan H, Faisal S, Khan A, et al. COVID-19: Review of Epidemiology and Potential Treatments Against 2019 Novel Coronavirus. Discoveries. 2020;8(2):e108. 
    23 citations in the past 2 years - $400 prize

    Congratulations! Prizes will be received by the awardees in July 2022!

  • 2021, July| 2021, Jul-September

    Due to the high volume of the submitted articles, both Discoveries and Discoveries Reports are experiencing processing and publication delays during the months of July-September 2021. We will get back to the normal processing and publication times starting in October 2021. Note that our editorial and administrativ work is fully funded by our publishing house at this time and we are striving to KEEP THE NO FEE/NO CHARGE strategy in place as long as possible. 

  • 2021, January| AWARDS!

    2022 DISCOVERIES AWARDS! Discoveries will offer $1000 and $400 awards in early 2022, for the most cited (2021 ISI Citations) and visible articles published in 2018-2021.

  • 2020, November| Follow us on Twitter!

    You can now follow the latest Discoveries news and updates on Twitter! (@DiscoveriesNews) 

  • 2020, August| For Authors!

    Due to a high volume of article submissions, our peer-review process takes more than usual. The pre-screening decision is released in 1-2 days, while the peer-review process lasts between 10 and 20 days.  

  • 2020, April | For Authors!

    WE DO NOT TOLERATE ANY MISCONDUCT! Please be aware that we are testing all received articles with specialized software for PLAGIARISM and WE WILL TAKE MEASURES if your article is already published or in consideration for publication by other journals! This may result in serious professional consequences for the authors. The latest striking case is the following article which is already published and was re-submitted here.  

  • 2020, April | For Authors!

    We are happy to let you know that all articles published in Discoveries are now included in PubMedCentral (PMC). New accepted articles will be included in PMC and PubMed within 1-2 weeks after their publication.

  • 2020, January | For Authors!

    Starting in January 2020, Discoveries will also consider articles submitted by Discoveries' Editorial Board members. However, only a small number of such articles (maximum 4 articles/year) will be considered for publication after the peer-review process, and the authors who are also our editors will be clearly disclosed on our website.  

  • 2019, September | Indexed by PMC

    Discoveries is now indexed by PubMedCentral and Pubmed. The agreement with US National Library of Medicine was signed on September 10, 2019. Our next step is ISI Web of Science indexing. NOTE: previously published articles will be included on PubMed in early 2020.

  • 2019, September | PubMed inclusion!

    We are happy to let you know that Discoveries successfuly passed the last step (Technical Review) required for PubMedCentral and PubMed inclusion!

  • 2019, July | PubMed inclusion News!

    We are happy to receive positive comments from PMC/NLM-NIH regarding Discoveries' last step (Technical Review) required for PubMedCentral and PubMed inclusion. We will let you know once whole indexing process is completed. 

  • 2019| Sharing and Distribution!

    All articles published in Discoveries are Open Access articles distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited and it is not used for commercial purposes.

  • 2018-2019 | For Authors!

    From now on and for at least 1 year, we will only accept articles from authors that are NOT members of Discoveries' Editorial Board. All articles submitted by our editors will be immediately rejected until further notice (one accepted article was already rejected). 

  • 2018 | PubMed inclusion News!

    Discoveries successfully passed the Scientific Quality Review by NLM-NIH for PubMedCentral and PubMed indexing. This is the first and the most important step towards PubMedCentral and PubMed indexing! The second (last) step is the Technical Review.

  • 2016, April | Faster Peer-Review

    Starting on April 13th 2016, all articles selected for a peer-review will receive the post peer-review decision within ~10 days. The initial pre-screening time will remain the same (48h from the submission of the manuscript). This decision will significantly accelerate the publication, with no effect on the quality of the peer-review process.

  • 2016, February | Manuscript submission

    Discoveries is commited to excellence, quality and high editorial standards. We are receiving an increasing number of manuscripts for which the identity of the authors/corresponding author can't be verified. Please NOTE that ALL these articles were and will be immediately REJECTED. Indicating an institutional email address is the easiest way to overcome this problem! Moreover, we do not accept any pressure on our editorial board to accept a manuscript. This results in a prompt rejection of the article.

    Editorial Policies
  • 2016, January | Main Objective

    After reaching all proposed milestones until now (including being indexed by Google Scholar in 2014), Discoveries' next Aim is PubMed indexing of all its articles (already published and upcoming). There will be no charge for the submission or publication of articles before Discoveries is indexed.

  • 2015, August | Discoveries - on PubMed

    We are happy to announce that our first Discoveries articles were included in PMC and PubMed. More articles (submitted by NIH funded authors) are now processed for being included.

    Discoveries articles now on PubMed
  • 2015, April | Special Issue

    DISCOVERIES published the SPECIAL ISSUE entitled "INFLAMMATION BETWEEN DEFENSE AND DISEASE: Impact on Tissue Repair and Chronic Sickness".

    Special Issue on "Inflammation"
  • 2015 | Ischemia Collection

    DISCOVERIES launched a call for papers for a Collection of Articles with focus on "ISCHEMIA". If you are interested to submit a manuscript, please contact us at info@discoveriesjournals.org

  • 2014, September | Special Issue

    DISCOVERIES just publish the SPECIAL ISSUE entitled "CELL SECRETION & MEMBRANE FUSION" in September 2014. Initially scheduled for publication between October 2014-March 2015, this issue was successfully published earlier than scheduled. 

    Special Issue
  • 2014, April | Indexed by Google Scholar

    All our published articles are now indexed by Google Scholar! First citations to Discoveries articles are included! Search for the article's title (recommended) or the authors:

    Google Scholar Search
  • 2014 | DISCOVERIES

    DOIs (Digital Object Identifiers) are now assigned to all our published manuscripts in Discoveries. DOI uniquely identifies an article and is provided by CrossRef.

  • 2013, July | Manuscript Submission

    Submit your manuscript FREE, FAST and EASY ! (in less than 1 minute)! There are NO fees for the manuscript submission or publishing of the accepted manuscripts.
    read more

  • 2013, July | DISCOVERIES

    We are now ACCEPTING MANUSCRIPTS for publishing in DISCOVERIES. We aim publishing a small number of high impact experimental articles & reviews (around 40/year) to maintain a high impact factor. Domains of interest: all areas related to Medicine, Biology and Chemistry ...

    read more
Member Login
Free Registration Click here to sign up
Copyright © 2013 Applied Systems. All Rights Reserved.