A Case of Isolated Left Ventricular Non-Compaction Cardiomyopathy in a HIV Patient Presenting With Acute Heart Failure

Background The left ventricular noncompaction cardiomyopathy (LVNC) is a rare subtype of cardiomyopathy associated with a high risk of heart failure (HF), thromboembolism, arrhythmia, and sudden cardiac death. Methods The proband with overlap phenotypes of LVNC and hypertrophic cardiomyopathy (HCM) complicates atrial fibrillation (AF), ventricular tachycardia (VT), and HF due to the diffuse myocardial lesion, which were diagnosed by electrocardiogram, echocardiogram and cardiac magnetic resonance imaging. Peripheral blood was collected from the proband and his relatives. DNA was extracted from the peripheral blood of proband for high-throughput target capture sequencing. The Sanger sequence verified the variants. The protein was extracted from the skin of the proband and healthy volunteer. The expression difference of desmocollin2 was detected by Western blot. Results The novel heterozygous truncated mutation (p.K47Rfs*2) of the DSC2 gene encoding an important component of desmosomes was detected by targeted capture sequencing. The western blots showed that the expressing level of functional desmocollin2 protein (~ 94kd) was lower in the proband than that in the healthy volunteer, indicating that DSC2 p.K47Rfs*2 obviously reduced the functional desmocollin2 protein expression in the proband. Conclusion The heterozygous DSC2 p.K47Rfs*2 remarkably and abnormally reduced the functional desmocollin2 expression, which may potentially induce the overlap phenotypes of LVNC and HCM, complicating AF, VT, and HF.

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Emerging Hallmarks of Mitochondrial Biochemistry in Cardiac Trabecular Morphogenesis and Left Ventricular Noncompaction (LVNC)

Mahendran¹,

Schwarz²

2024

New Insights on Cardiomyopathy

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Functioning as a pivotal platform for energy production and transduction, mitochondria generate ATP to meet the dynamic demands of embryonic development. Consequently, disruption or alteration in mitochondrial activity influences not only cellular status, but also can impact organ formation. Disrupted mitochondrial performance not only impairs cardiovascular function but can also disrupt cardiac maturation through prevention of the myocardium’s transition between the trabeculation to the compaction phase. During embryonic development, proliferating cardiomyocytes create a trabecular mesh network. Gradual compaction of this network transforms the intra-trabecular spaces into the capillaries of the coronary circulation. Achievement of functional compaction and ultimately normal cardiac function is dependent in part on mitochondrial well-being with failure to complete remodeling of the inner trabecular layer contributing to disrupted endocardial vasculature and fibrosis, left ventricular noncompaction (LVNC). LVNC, commonly associated with mitochondrial genetic alterations, is speculated to occur due to an interruption during the process of compaction at the early developmental stages of the left ventricle (LV). Mitochondrial mutations, remain the common etiology of LVNC with a wide spectrum of these genes associated with other cardiomyopathies related to LVNC. Understanding the impact that mitochondrial genetic alterations have on the evolution of cardiac noncompaction could provide new treatment opportunities.

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A Case of Isolated Left Ventricular Non-Compaction Cardiomyopathy in a HIV Patient Presenting With Acute Heart Failure

Cited by 3 publications

References 27 publications

MRI Findings in Desmoplakin-related Arrhythmogenic Left Ventricular Cardiomyopathy in a Pediatric Patient: A Case Report

MRI Findings in Desmoplakin-related Arrhythmogenic Left Ventricular Cardiomyopathy in a Pediatric Patient: A Case Report

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation

Emerging Hallmarks of Mitochondrial Biochemistry in Cardiac Trabecular Morphogenesis and Left Ventricular Noncompaction (LVNC)

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