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. |
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Copyright © The Author(s), 2024. Published by Science Publishing Group |
Familial Hypertrophic Cardiomyopathy, Young Adult, Diagnosis, Low Income Country
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APA Style
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
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
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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Download@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}
}
TY - JOUR 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 AU - Mazou Ngou Temgoua AU - Ngam Mary Engonwei AU - Samuel Kingue Y1 - 2019/06/11 PY - 2019 N1 - https://doi.org/10.11648/j.ccr.20190302.12 DO - 10.11648/j.ccr.20190302.12 T2 - Cardiology and Cardiovascular Research JF - Cardiology and Cardiovascular Research JO - Cardiology and Cardiovascular Research SP - 27 EP - 30 PB - Science Publishing Group SN - 2578-8914 UR - https://doi.org/10.11648/j.ccr.20190302.12 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 IS - 2 ER -
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