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Published on: February 17, 2018
Two different cardiomyopathies in a single patient : hypertrophic cardiomyopathy and left ventricular noncompaction
1Faculty of Medicine, Department of Cardiology, Marmara University, Yildiz Caddesi Konak Apartmani No: 43/16, 34353, Besiktas/Istanbul, Turkey.
Insights
This case study presents a rare instance of a 29-year-old man diagnosed with both hypertrophic cardiomyopathy and left ventricular noncompaction. It suggests a potential shared genetic cause or distinct mutations contributing to these distinct cardiac conditions.
Area of Science:
- Cardiology
- Genetics
- Human Pathology
Background:
- Hypertrophic cardiomyopathy (HCM) is a common genetic heart disease causing left ventricular (LV) hypertrophy.
- Left ventricular (LV) noncompaction is a rare cardiomyopathy with persistent fetal myocardium and distinct LV abnormalities.
Observation:
- A 29-year-old male patient presented with co-occurring hypertrophic cardiomyopathy and LV noncompaction.
- This unique case involves two distinct inherent cardiac conditions in the same individual.
Findings:
- The coexistence of HCM and LV noncompaction in one patient is highly unusual.
- The case highlights the complex genetic underpinnings of cardiomyopathies.
Implications:
- This case suggests a potential common genetic mutation underlying both HCM and LV noncompaction.
- Alternatively, the patient may harbor separate genetic mutations for each condition.
- Further research into shared genetic pathways for cardiomyopathies is warranted.
Abstract:
Hypertrophic cardiomyopathy is a complex and relatively common genetic disorder characterized by left ventricular (LV) hypertrophy, usually associated with a nondilated and hyperdynamic chamber with heterogeneous phenotypic expression and clinical course. On the other hand, LV noncompaction is an uncommon cardiomyopathy characterized by the persistence of fetal myocardium with a pattern of prominent trabecular meshwork and deep intertrabecular recesses, systolic dysfunction, and LV dilatation. We report a 29-year-old man with these two different inherent conditions. Our case raises the possibility of a genetic mutation common to these two clinical entities or different gene mutations existing in the same individual.
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