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Familial Apical Hypertrophic Cardiomyopathy in a Young Adult: A Rare Occasion for Making Precise Diagnostic in a Low Income Country

Received: 14 April 2019     Accepted: 23 May 2019     Published: 11 June 2019
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Abstract

Hypertrophic Cardiomyopathy is a genetic disorder with asymmetric left ventricular hypertrophy. In a low income country it is sometimes difficult to do global checkup and precise diagnosis in suspected patients. We present a case of apical hypertrophic cardiomyopathy with MYBPC3 mutation in a young Cameroonian. A 36 years old man with no cardiovascular risk factors, presents with a progressive chest pain on exertion. The physical examination was normal. The resting electrocardiography showed inverted T waves in anterior, lateral and inferior leads. Treadmill electrocardiography and Coronarograpy were normal. A transthoracic cardiac ultrasound showed hypertrophy of 168 mm in the apical segment, the systolic function and the regional wall motion of the left ventricle were normal. We concluded of hypertrophic cardiomyopathy with abnormality in the myosin binding protein C (MYBPC3) found on genetic analysis. A screening cardiac ultrasound was realized in the patient’s family and the son was found to have septal hypertrophy. Strict follow-ups were organized for the patient and his son. Familial Hypertrophic Cardiomyopathy is a rare disease in cardiology; the precise diagnosis requires complex exams which are sometimes unavailable in low income countries. This case was a special one with all necessary investigations giving the possibility to organize follow-ups for patient and related family member to prevent sudden death.

Published in Cardiology and Cardiovascular Research (Volume 3, Issue 2)
DOI 10.11648/j.ccr.20190302.12
Page(s) 27-30
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2019. Published by Science Publishing Group

Keywords

Familial Hypertrophic Cardiomyopathy, Young Adult, Diagnosis, Low Income Country

References
[1] Marian A, Braunwald E. hypertrophic cardiomyopathy genetics, pathogenesis, clinical manifestations, diagnosis and therapy. Circres 2017; 121: 749-770.
[2] Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: The Task force for the diagnosis and management of hypertrophic cardiomyopathy of the European Society of Cardiology (ESC). EurHeart J. 2014 Oct 14; 35 (39): 2733-79.
[3] Familial hypertrophic cardiomyopathy. Genetics Home Reference. August, 2015; http://ghr.nlm.nih.gov/condition/familial-hypertrophic-cardiomyopathy.
[4] Barry J. Maron, Steve R. ommen et al, Hypertrophic cardiomyopathy present and future, with translation into contemporary cardiovascular medecine. Jacc. 2014. 64:0735-1097.
[5] Barry J. Maron, Iacopo Olivotto et al, Epidemiology of cardiomyopathy-relateddeathrevisited in a large non-referralbased population. CIR. 2000; 102: 858-864.
[6] Sakamoto T, Tei C et al. Giant T wave inversion as a manifestation of asymmetrical apical hypertrophy of the left ventricle: echocardiographic and ultrasonocardiotomographicstudy.jpn Heart J. 1976; 17: 611-629.
[7] Ting P, Gunasegaran K, Teo W S. Electrocardiographicalcase. asymptomatic patient with deep T-wave inversions. Singapore Med J 2007; 48 (6): 586
[8] Jeffrey B. Geske, Steve R. Ommen et al. Hypertrophic cardiomyopathy clinical update. JACC: heart failure. 2018 May 5.6 (5): 364-75.
[9] YusufKasirye, Janaki R Manne et al. Apical hypertrophic cardiomyopathy presenting as recurrent unexplained syncope. Clin Med Res. 2012 Feb; 10 (1): 26-31
[10] Carlos A. Dumont, Lorenzo Monserrat et al. Interpretation of electrocardiographic abnormalities in hypertrophic cardiomyopathy with cardiac magnetic resonance. Eur Heart J. 2006; 27: 1725-1731
[11] Nakamura T, Furukawa K et al. Long-term follow-up of electrocardiographic changes in patients with assymetric apical hypertrophy. J Cardiol. 1990; 20 (3): 635-47.
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    Sylvie Ndongo Amougou, Helles Murielle Lema, Mazou Ngou Temgoua, Ngam Mary Engonwei, Samuel Kingue. (2019). Familial Apical Hypertrophic Cardiomyopathy in a Young Adult: A Rare Occasion for Making Precise Diagnostic in a Low Income Country. Cardiology and Cardiovascular Research, 3(2), 27-30. https://doi.org/10.11648/j.ccr.20190302.12

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    ACS Style

    Sylvie Ndongo Amougou; Helles Murielle Lema; Mazou Ngou Temgoua; Ngam Mary Engonwei; Samuel Kingue. Familial Apical Hypertrophic Cardiomyopathy in a Young Adult: A Rare Occasion for Making Precise Diagnostic in a Low Income Country. Cardiol. Cardiovasc. Res. 2019, 3(2), 27-30. doi: 10.11648/j.ccr.20190302.12

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    AMA Style

    Sylvie Ndongo Amougou, Helles Murielle Lema, Mazou Ngou Temgoua, Ngam Mary Engonwei, Samuel Kingue. Familial Apical Hypertrophic Cardiomyopathy in a Young Adult: A Rare Occasion for Making Precise Diagnostic in a Low Income Country. Cardiol Cardiovasc Res. 2019;3(2):27-30. doi: 10.11648/j.ccr.20190302.12

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  • @article{10.11648/j.ccr.20190302.12,
      author = {Sylvie Ndongo Amougou and Helles Murielle Lema and Mazou Ngou Temgoua and Ngam Mary Engonwei and Samuel Kingue},
      title = {Familial Apical Hypertrophic Cardiomyopathy in a Young Adult: A Rare Occasion for Making Precise Diagnostic in a Low Income Country},
      journal = {Cardiology and Cardiovascular Research},
      volume = {3},
      number = {2},
      pages = {27-30},
      doi = {10.11648/j.ccr.20190302.12},
      url = {https://doi.org/10.11648/j.ccr.20190302.12},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ccr.20190302.12},
      abstract = {Hypertrophic Cardiomyopathy is a genetic disorder with asymmetric left ventricular hypertrophy. In a low income country it is sometimes difficult to do global checkup and precise diagnosis in suspected patients. We present a case of apical hypertrophic cardiomyopathy with MYBPC3 mutation in a young Cameroonian. A 36 years old man with no cardiovascular risk factors, presents with a progressive chest pain on exertion. The physical examination was normal. The resting electrocardiography showed inverted T waves in anterior, lateral and inferior leads. Treadmill electrocardiography and Coronarograpy were normal. A transthoracic cardiac ultrasound showed hypertrophy of 168 mm in the apical segment, the systolic function and the regional wall motion of the left ventricle were normal. We concluded of hypertrophic cardiomyopathy with abnormality in the myosin binding protein C (MYBPC3) found on genetic analysis. A screening cardiac ultrasound was realized in the patient’s family and the son was found to have septal hypertrophy. Strict follow-ups were organized for the patient and his son. Familial Hypertrophic Cardiomyopathy is a rare disease in cardiology; the precise diagnosis requires complex exams which are sometimes unavailable in low income countries. This case was a special one with all necessary investigations giving the possibility to organize follow-ups for patient and related family member to prevent sudden death.},
     year = {2019}
    }
    

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    T1  - Familial Apical Hypertrophic Cardiomyopathy in a Young Adult: A Rare Occasion for Making Precise Diagnostic in a Low Income Country
    AU  - Sylvie Ndongo Amougou
    AU  - Helles Murielle Lema
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    JF  - Cardiology and Cardiovascular Research
    JO  - Cardiology and Cardiovascular Research
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    AB  - Hypertrophic Cardiomyopathy is a genetic disorder with asymmetric left ventricular hypertrophy. In a low income country it is sometimes difficult to do global checkup and precise diagnosis in suspected patients. We present a case of apical hypertrophic cardiomyopathy with MYBPC3 mutation in a young Cameroonian. A 36 years old man with no cardiovascular risk factors, presents with a progressive chest pain on exertion. The physical examination was normal. The resting electrocardiography showed inverted T waves in anterior, lateral and inferior leads. Treadmill electrocardiography and Coronarograpy were normal. A transthoracic cardiac ultrasound showed hypertrophy of 168 mm in the apical segment, the systolic function and the regional wall motion of the left ventricle were normal. We concluded of hypertrophic cardiomyopathy with abnormality in the myosin binding protein C (MYBPC3) found on genetic analysis. A screening cardiac ultrasound was realized in the patient’s family and the son was found to have septal hypertrophy. Strict follow-ups were organized for the patient and his son. Familial Hypertrophic Cardiomyopathy is a rare disease in cardiology; the precise diagnosis requires complex exams which are sometimes unavailable in low income countries. This case was a special one with all necessary investigations giving the possibility to organize follow-ups for patient and related family member to prevent sudden death.
    VL  - 3
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Author Information
  • Department of Internal Medicine, Faculty of Medicine and Biomedical Sciences, University of Yaoundé, Yaoundé, Cameroon

  • Department of Internal Medicine, Faculty of Medicine and Biomedical Sciences, University of Yaoundé, Yaoundé, Cameroon

  • Department of Internal Medicine, Faculty of Medicine and Biomedical Sciences, University of Yaoundé, Yaoundé, Cameroon

  • Department of Internal Medicine, Faculty of Medicine and Biomedical Sciences, University of Yaoundé, Yaoundé, Cameroon

  • Department of Internal Medicine, Faculty of Medicine and Biomedical Sciences, University of Yaoundé, Yaoundé, Cameroon

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