Is Left Ventricular Noncompaction in Children Truly an Isolated Lesion?

Tsai, Shane; Ebenroth, Eric S.; Hurwitz, Roger A.; Cordes, Timothy M.; Schamberger, Marcus S.; Batra, Anjan S.

doi:10.1007/s00246-008-9382-1

Cited by 46 publications

(60 citation statements)

References 15 publications

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“…Different congenital heart malformations (septal defects, patent ductus arteriosus, aortic aneurysm, and Ebstein anomaly) have been reported in families with pathogenic mutations in sarcomeric protein genes, including MYBPC3, MYH6, MYH7, MYH11, and ACTC1. 31,[36][37][38] In children with noncompaction cardiomyopathy, Tsai et al 39 showed that 78% had a congenital heart defect. These data suggest that sarcomeric cardiac muscle proteins are not only involved in cardiomyopathies but also in congenital heart malformations.…”

Section: Discussionmentioning

confidence: 99%

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

et al. 2014

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Familial hypertrophic cardiomyopathy (HCM) is usually caused by autosomal dominant pathogenic mutations in genes encoding sarcomeric or sarcomere-associated cardiac muscle proteins. The disease mainly affects adults, although young children with severe HCM have also been reported. We describe four unrelated neonates with lethal cardiomyopathy, and performed molecular studies to identify the genetic defect. We also present a literature overview of reported patients with compound heterozygous or homozygous pathogenic MYBPC3 mutations and describe their clinical characteristics. All four children presented with feeding difficulties, failure to thrive, and dyspnea. They died from cardiac failure before age 13 weeks. Features of left ventricular noncompaction were diagnosed in three patients. In the fourth, hypertrabeculation was not a clear feature, but could not be excluded. All of them had septal defects. Two patients were compound heterozygotes for the pathogenic c.2373dup p. (Trp792fs) and c.2827C4T p.(Arg943*) mutations, and two were homozygous for the c.2373dup and c.2827C4T mutations. All patients with biallelic truncating pathogenic mutations in MYBPC3 reported so far (n = 21) were diagnosed with severe cardiomyopathy and/or died within the first few months of life. In 62% (13/21), septal defects or a patent ductus arteriosus accompanied cardiomyopathy. In contrast to heterozygous pathogenic mutations, homozygous or compound heterozygous truncating pathogenic MYBPC3 mutations cause severe neonatal cardiomyopathy with features of left ventricular noncompaction and septal defects in approximately 60% of patients.

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Section: Discussionmentioning

confidence: 99%

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

et al. 2014

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“…Furthermore, the data is retrospective and potentially affected by selection bias of patients being referred to tertiary echocardiography labs. Current estimated prevalence of isolated LVNC (ILVNC) is 0.014-0.26% based on this data [4,6,10,[18][19][20]. The mean age of diagnosis is approximately 40 years of age for adults and 7 years of age for children [4,[6][7][8][9][10].…”

Section: Clinical Features Epidemiologymentioning

confidence: 99%

“…Clinical presentations of LVNC are widely variable ranging from asymptomatic patients to aggressive cardiomyopathy symptoms resulting in cardiac death or transplantation [3,4,[6][7][8][9][10][11][12][18][19][20]. Clinical heart failure is a common presentation and has been shown to occur in 33-73% of adult patients and in 22-54% of children across multiple studies [3][4][5][6][7][8][9][20][21][22].…”

Section: Heart Failurementioning

confidence: 99%

“…Clinical heart failure is a common presentation and has been shown to occur in 33-73% of adult patients and in 22-54% of children across multiple studies [3][4][5][6][7][8][9][20][21][22]. There is limited data explicitly analyzing the correlation between symptoms of heart failure and LV dysfunction; however, the few studies which include this data demonstrate significant overlap of patients with clinical heart failure and LV systolic dysfunction [3,12,22].…”

Section: Heart Failurementioning

confidence: 99%

“…One observational study to date documents an association between VT and LV dysfunction in patients with LVNC [6,27] . The rate of VT in pediatric populations is generally lower ranging from 0-23% in most studies [8,9,11,20,21]; however, one study comprising 8 pts demonstrated VT in 5 (63%) of them [7].…”

Section: Arrhythmiamentioning

confidence: 99%

See 2 more Smart Citations

Left Ventricular Non-Compaction: Current Controversy and New Insights

E¹

2015

J Genet Syndr Gene Ther

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Left ventricular non-compaction is an increasingly recognized familial cardiomyopathy characterized morphologically by deep myocardial trabeculations and a highly variable, but potentially aggressive clinical course leading to cardiac death or cardiac transplantation. Great controversy exists regarding the pathophysiology, diagnostic approach, clinical characteristics, and management of the condition. To date, there are no universally accepted precise diagnostic criteria or management guidelines. Recent clinical studies and basic science research have significantly added to our understanding of LVNC in all of these aspects. This article reviews the literature to date on LVNC and addresses current controversies surrounding the pathophysiology, diagnosis, clinical features, and management.

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Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly

Dod

Bhardwaj

Hummel

et al. 2009

American J of Med Genetics Pt A

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We report on a case of a 25-year-old male with 1p36 deletion syndrome, who was diagnosed with left ventricular noncompaction (LVNC). The association of this rare chromosomal abnormality with LVNC is reported in the pediatric literature, but it has not previously been specifically reported in adults. It is important to diagnose this unclassified cardiomyopathy in the adult population with this chromosomal abnormality for appropriate management and treatment as highlighted in our case.

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Is Left Ventricular Noncompaction in Children Truly an Isolated Lesion?

Cited by 46 publications

References 15 publications

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects

Left Ventricular Non-Compaction: Current Controversy and New Insights

Left ventricular noncompaction: A rare disorder in adults and its association with 1p36 chromosomal anomaly

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