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Improvement in systolic function in left ventricular non-compaction cardiomyopathy: A case report.

ABSTRACT: This is a case of a 48-year-old man who presented with a pulmonary embolism and was found to have left ventricular non-compaction cardiomyopathy. Initial echocardiograms demonstrated prominent apical trabeculations with reduced biventricular function. These findings were further confirmed and characterized by cardiac magnetic resonance imaging. He met all major criteria used to identify left ventricular non-compaction cardiomyopathy. He underwent medical management for heart failure and during follow-up was noted to have significant improvement in left ventricular systolic function and symptoms. While most management attention is focused on rhythm disturbances or embolic risk, particular attention should also be exercised to ensure that heart failure medical therapy is optimized. While many with left ventricular non-compaction cardiomyopathy have irreversible dysfunction, this case highlights that there may be some who will respond well to aggressive medical therapy. The diagnosis and medical management of left ventricular non-compaction cardiomyopathy are reviewed in light of our patient and his clinical course. <Learning objective: Historically, left ventricular non-compaction cardiomyopathy (LVNC) has been associated with significant morbidity and mortality. Discussion often focuses on sudden cardiac death and prevention of embolisms. Many of the initial reports and case series were written in an era when standard medical therapy for congestive heart failure was not yet defined. While many do not respond as this case did, this case emphasizes that optimal medical therapy can make a substantial difference, even for LVNC.>.

SUBMITTER: Lin T

PROVIDER: S-EPMC6279643 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature

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Characterization of Left Ventricular Non-Compaction Cardiomyopathy.

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Daily 10 mg rivaroxaban as a therapy for ventricular thrombus related to left ventricular non-compaction cardiomyopathy: A case report.

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| S-EPMC5794369 | biostudies-literature

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| S-EPMC8268202 | biostudies-literature

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| S-EPMC7047060 | biostudies-literature

Cardiomyopathy in the peripartum period due to left ventricular non-compaction and association with Ebstein's anomaly: a case report.

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Left ventricular non-compaction cardiomyopathy associated with the PRKAG2 mutation.

Project description:Left ventricular non-compaction cardiomyopathy (LVNC) is one of the most common inherited cardiovascular diseases. The genetic backgrounds of most LVNC patients are not fully understood. We collected clinical data, family histories, and blood samples and performed genetic analysis using next-generation sequencing (NGS) from a Chinese family of 15 subjects. Clinically LVNC affected subjects showed marked cardiac phenotype heterogeneity. We found that these subjects with LVNC carried a missense heterozygous genetic mutation c.905G>A (p.R302Q) in γ2 subunit of AMP-activated protein kinase (PRKAG2) gene through NGS. Individuals without this mutation showed no symptoms or cardiac structural abnormalities related to LVNC. One subject was the victim of sudden cardiac death. To sum up, PRKAG2 mutation c.905G>A (p.R302Q) caused familial LVNC. Our results described a potentially pathogenic mutation associated with LVNC, which may further extend the spectrum of LVNC phenotypes related to PRKAG2 gene mutations.

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Project description:Left ventricular (LV) systolic dysfunction is the most frequent initial presentation of patient with LV noncompaction (NC). Our objectives were to evaluate myocardial contraction properties in patients with LVNC and the relationship of non-compacted segments with the degree of global and regional systolic deformation.We included 50 LVNC with an echocardiography and speckle imaging calculation of peak longitudinal strain (PLS). Each of the 16 LV myocardial segments was defined as NC (ratio NC/compacted layer > 2), borderline (NC/C 0-2) and compacted (NC/C = 0). Basal, median and apical strain values were calculated as the average of segmental strain values. For comparison a group of 50 patients with dilated cardiomyopathy (DCM) underwent the same measurements.There was no statistical difference between the 2 groups for any conventional LV systolic parameters. A characteristic deformation pattern was observed in LVNC with higher strain values in the LV apical segments (- 12.8 ± 5.9 vs - 10.7 ± 5.7) and an apical-basal ratio (1.52 ± 0.73 vs 1.12 ± 0.42; p < 0.001). There was no correlation between LV function and the degree of NC. Among 726 segments, compacta thickness was thinner in NC vs C segments (6.4 ± 1.4 vs 7.7 ± 1.8 mm; p < 0.05). There was no difference in WMS but regional strain values were significantly higher in NC compared to C segments (- 13.1 ± 6.1 vs - 10.2 ± 6.3; p < 0.05).Compared to DCM, LVNC presented with relatively preserved apical deformation as compared to basal segments. Lower regional deformation values in compacted segments confirm the concept that LVNC is a phenotypic marker of an underlying diffuse cardiomyopathy involving both C and NC myocardium.

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A novel loss-of-function mutation in NRAP is associated with left ventricular non-compaction cardiomyopathy.

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Dilated-Left Ventricular Non-Compaction Cardiomyopathy in a Pediatric Case with <i>SPEG</i> Compound Heterozygous Variants.

Project description:Left Ventricular Non-Compaction (LVNC) is defined by the triad prominent myocardial trabecular meshwork, thin compacted layer, and deep intertrabecular recesses. LVNC associated with dilation is characterized by the coexistence of left ventricular dilation and systolic dysfunction. Pediatric cases with dilated-LVNC have worse outcomes than those with isolated dilated cardiomyopathy and adult patients. Herein, we report a clinical and genetic investigation using trio-based whole-exome sequencing of a pediatric case with early-onset dilated-LVNC. Compound heterozygous mutations were identified in the Striated Muscle Enriched Protein Kinase (SPEG) gene, a key regulator of cardiac calcium homeostasis. A paternally inherited mutation: SPEG; p.(Arg2470Ser) and the second variant, SPEG; p.(Pro2687Thr), is common and occurred de novo. Subsequently, Sanger sequencing was performed for the family in order to segregate the variants. Thus, the index case, his father, and both sisters carried the SPEG: p.(Arg2470Ser) variant. Only the index patient carried both SPEG variants. Both sisters, as well as the patient's father, showed LVNC without cardiac dysfunction. The unaffected mother did not harbor any of the variants. The in silico analysis of the identified variants (rare and common) showed a decrease in protein stability with alterations of the physical properties as well as high conservation scores for the mutated residues. Interestingly, using the Project HOPE tool, the SPEG; p.(Pro2687Thr) variant is predicted to disturb the second fibronectin type III domain of the protein and may abolish its function. To our knowledge, the present case is the first description of compound heterozygous SPEG mutations involving a de novo variant and causing dilated-LVNC without neuropathy or centronuclear myopathy.

| S-EPMC9102709 | biostudies-literature

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