Implications of genetic testing in noncompaction/hypertrabeculation

Shieh, Joseph T.C.

doi:10.1002/ajmg.c.31371

Cited by 8 publications

(4 citation statements)

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“…In addition to sarcomere-encoding genes and the cytoskeleton, mutations in the sodium channel gene, SCN5A, is associated wtih LVNC and rhythm disturbance [63]. Diagnostic testing in patients with LVNC appear to have a detection rate of clinically significant variants in 35-40% of individuals, with sarcomere-encoding genes most commonly found to be mutated [4, 70]. …”

Section: Introductionmentioning

confidence: 99%

Inherited Cardiomyopathies

Towbin

2014

Circ J

158

148

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Cardiomyopathies, diseases of the heart muscle, are major causes of morbidity and mortality. A significant percentage of patients with cardiomyopathies have genetic-based, inheritable disease and, over the past two decades the genetic causes of these disorders have been increasingly discovered. The genes causing these disorders when they are mutated appear to encode proteins that frame a “final common pathway” for that specific disorder but the specifics of the phenotype, including age of onset, severity, and outcome is variable for reasons not yet understood. The “final common pathways” for the classified forms of cardiomyopathy include the sarcomere in the primarily diastolic dysfunction disorders hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM), the linkage of the sarcomere and sarcolemma in the systolic dysfunction disorder dilated cardiomyopathy (DCM), and the desmosome in arrhythmogenic cardiomyopathy (AVC). Left ventricular noncompaction cardiomyopathy (LVNC) is an overlap disorder and appears that any of these “final common pathways” can be involved depending on the specific form of LVNC. The genetics and mechanisms responsible for these clinical phenotypes will be described.

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Section: Introductionmentioning

confidence: 99%

Inherited Cardiomyopathies

Towbin

2014

Circ J

158

148

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“…Considering the hereditary and familial pattern of NCLV [ 17 ] and the correlation between genotype and phenotype of NCLV, a genetic study is suggested in all patients to help the physician have a better estimation of patients’ prognosis [ 18 , 19 ]. However, we could only perform whole exome sequencing (WES) analysis in five cases, which showed different genes ( SCNIB , ALPK3 , IGF2BP2 , BAG3 , MYH7 , MYBPC3 , DSP , TTN , and DSC2 ); a genetic study of the family members also diagnosed cardiomyopathy in the mother of one of the cases.…”

Section: Discussionmentioning

confidence: 99%

Non-Compaction Ventricle and Associated Cardiovascular and Non-Cardiovascular Diseases; More Attention Is Needed!

Sharifkazemi

Mohseni-Badalabadi

Kasaie

et al. 2023

Life

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Non-compaction of the ventricle (NCV) with a higher tendency to left ventricular involvement (NCLV) is a genetic disorder which can cause arrhythmias and cardiac arrest or remain asymptomatic. It is generally considered an isolated disease most frequently, while a few case reports have reported its association with cardiac anomalies. As the treatment strategies differ for NCV and cardiac anomalies, missed diagnosis of the concomitant cardiac diseases can result in poor response to treatment and prognosis. Here, we present 12 adult patients diagnosed with NCV and associated cardiovascular anomalies. By increasing the clinical suspicion and physician’s awareness about the possibility of the presence of other cardiovascular diseases with NCLV and using close examination and follow-up of the patients, we could diagnose this number of patients during 14 months of investigation. This case series emphasizes the need for increased awareness and attention of echocardiographers on the diagnosis of other cardiovascular diseases associated with NCV for a better response to treatment and improved patient prognosis.

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“…Currently, there are no mechanisms to prevent LVNC or to return gain of cardiac function. While genetic testing can be done to identify gene mutations (Table 1) and determine the risk of passing these mutations to offspring, there are not therapeutic options to actively treat these gene mutations [74]. Future therapy that promotes personalized gene therapy could be a useful tool in treating LVNC.…”

Section: Schematic Overview Of Influencing Factors In Myocardial Nonc...mentioning

confidence: 99%

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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Implications of genetic testing in noncompaction/hypertrabeculation

Cited by 8 publications

References 50 publications

Inherited Cardiomyopathies

Inherited Cardiomyopathies

Non-Compaction Ventricle and Associated Cardiovascular and Non-Cardiovascular Diseases; More Attention Is Needed!

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

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