Ventricular noncompaction and distal chromosome 5q deletion

Pauli, Richard M.; Scheib-Wixted, Susan; Cripe, Linda H.; Izumo, Seigo; Sekhon, Gurbax S.

doi:10.1002/(sici)1096-8628(19990806)85:4<419::aid-ajmg21>3.0.co;2-s

Cited by 94 publications

(50 citation statements)

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“…A distal chromosome 5q deletion causes a loss of the cardiac specific gene CSX. This deletion was described in a child with findings of LVNC [Pauli et al 1999].…”

Section: Lim Domain Binding Protein 3 (Zasp/ldp3) and Lamin A/c (Lmna)mentioning

confidence: 89%

Left ventricular noncompaction cardiomyopathy: updated review

Udeoji

Philip

Morrissey

et al. 2013

Therapeutic Advances in Cardiovascular Disease

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Abstract:The first case of noncompaction was described in 1932 after an autopsy performed on a newborn infant with aortic atresia/coronary-ventricular fistula. Isolated noncompaction cardiomyopathy was first described in 1984. A review on selected/relevant medical literature was conducted using Pubmed from 1984 to 2013 and the pathogenesis, clinical features, and management are discussed. Left ventricular noncompaction (LVNC) is a relatively rare congenital condition that results from arrest of the normal compaction process of the myocardium during fetal development. LVNC shows variability in its genetic pattern, pathophysiologic findings, and clinical presentations. The genetic heterogeneity, phenotypical overlap, and variety in clinical presentation raised the suspicion that LVNC might just be a morphological variant of other cardiomyopathies, but the American Heart Association classifies LVNC as a primary genetic cardiomyopathy. The familiar type is common and follows a X-linked, autosomal-dominant, or mitochondrial-inheritance pattern (in children). LVNC can occur in isolation or coexist with other cardiac and/or systemic anomalies. The clinical presentations are variable ranging from asymptomatic patients to patients who develop ventricular arrhythmias, thromboembolism, heart failure, and sudden cardiac death. Increased awareness over the last 25 years and improvements in technology have increased the identification of this illness and improved the clinical outcome and prognosis. LVNC is commonly diagnosed by echocardiography. Other useful diagnostic techniques for LVNC include cardiac magnetic resonance imaging, computerized tomography, and left ventriculography. Management is symptom based and patients with symptoms have a poorer prognosis. LVNC is a genetically heterogeneous disorder which can be associated with other anomalies. Making the correct diagnosis is important because of the possible associations and the need for long-term management and screening of living relatives.

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“…A distal chromosome 5q deletion causes a loss of the cardiac specific gene CSX. This deletion was described in a child with findings of LVNC [Pauli et al 1999].…”

Section: Lim Domain Binding Protein 3 (Zasp/ldp3) and Lamin A/c (Lmna)mentioning

confidence: 89%

Left ventricular noncompaction cardiomyopathy: updated review

Udeoji

Philip

Morrissey

et al. 2013

Therapeutic Advances in Cardiovascular Disease

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“…These gene products have functions related to cytoskeletal and/or mitochondrial function (Tang et al 2010). Another six loci located on chromosomes 1p36 (Thienpont et al 2007), 1q43 (Kanemoto et al 2006), 5q35 (Pauli et al 1999), 8p23 (Blinder et al 2011), and11p15 (Sasse-Klaassen et al 2004) also have been linked to the phenotype of nonsyndromic LVNC. While a number of genes and candidate loci have been reported with LVNC, only a minority of affecteds have been found to harbor causative mutations (Finsterer et al 2004;Ichida 2009;Tang et al 2010;Xing et al 2006).…”

Section: Discussionmentioning

confidence: 99%

Noncompaction of the Ventricular Myocardium and Hydrops Fetalis in Cobalamin C Disease

Tanpaiboon

Sloan

Callahan³

et al. 2012

JIMD Reports

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Cobalamin C disease (cblC), a form of combined methylmalonic acidemia and hyperhomocysteinemia caused by mutations in the MMACHC gene, may be the most common inborn error of intracellular cobalamin metabolism. The clinical manifestations of cblC disease are diverse and range from intrauterine growth retardation to adult onset neurological disease. The occurrence of structural heart defects appears to be increased in cblC patients and may be related to the function of the MMACHC enzyme during cardiac embryogenesis, a concept supported by the observation that Mmachc is expressed in the bulbis cordis of the developing mouse heart. Here we report an infant who presented with hydrops fetalis, ventricular dysfunction, and echocardiographic evidence of LVNC, a rare congenital cardiomyopathy. Metabolic evaluations, complementation studies, and mutation analysis confirmed the diagnosis of cblC disease. These findings highlight an intrauterine cardiac phenotype that can be displayed in cblC disease in association with nonimmune hydrops.

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“…The mechanism by which these mutations produce diverse cardiac malformations remains to be determined. Pauli et al (26) reported a patient with haploinsufficiency of NKX2.5 (CSX) resulting from a distal chromosome 5q deletion that manifested ASD, AV block, and ventricular noncompaction. Because of the large number of our patients who had ASD and AV block, many of the mutations we have identified may function as null alleles.…”

Section: Discussionmentioning

confidence: 99%