The cardiac lesions in Bassen-Kornzweig syndrome: Report of a case, with autopsy findings
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Cited by (43)
Guidance for the diagnosis and treatment of hypolipidemia disorders
2022, Journal of Clinical LipidologyCitation Excerpt :Muscle inflammation and weakness have been described. Histologic abnormalities to the myocardium including interstitial fibrosis and enlarged muscle fibers have been described in a patient with heart failure62,63. Respiratory failure was described in another patient with severe neuropathy64.
Lack of MTTP Activity in Pluripotent Stem Cell-Derived Hepatocytes and Cardiomyocytes Abolishes apoB Secretion and Increases Cell Stress
2017, Cell ReportsCitation Excerpt :However, it is not known whether cardiac lipid metabolism is affected in patients with ABL. Interestingly, some patients with ABL disease exhibit cardiac arrhythmias and heart failure (Dische and Porro, 1970; Gregg and Wetterau, 1994; Ledmyr et al., 2004; Sobrevilla et al., 1964; Zamel et al., 2008). These findings are consistent with the concept that MTTP-mediated secretion of apoB is a possible mechanism for protecting against cardiomyocyte lipid overload.
Insights from human congenital disorders of intestinal lipid metabolism
2015, Journal of Lipid ResearchCitation Excerpt :Profound muscle weakness has been described in ABL. Striated and smooth muscles are affected and may represent the cause of premature death among a few ABL patients (117–119). The etiology of myopathy remains unclear, although myositis appears to be related to ceroid pigment deposition and muscle weakness to vitamin E deficiency and neuropathy.
Allele-specific regulation of MTTP expression influences the risk of ischemic heart disease
2010, Journal of Lipid ResearchCitation Excerpt :Furthermore, it has been shown that decreased transcription of MTTP mRNA is inversely correlated with intracellular TAG concentrations in human hearts (5). Cardiac lesions and excessive deposition of lipochrome pigment have been reported in abetalipoproteinema, a rare recessive monogenic disease caused by mutation in MTTP (21, 22). Furthermore, tissue-specific knockout mice that lack MTTP expression in the heart show cardiac lipid accumulation (4).
Lipoprotein Secretion and Triglyceride Stores in the Heart
2001, Journal of Biological ChemistryCitation Excerpt :Whether this finding is relevant to the human lipoprotein deficiency syndrome abetalipoproteinemia is not clear. There have been occasional cases of cardiomyopathy in abetalipoproteinemia (38), but as far as we are aware, no one has assessed cardiac lipid stores in this condition. Even if such measurements were feasible, they might be difficult to interpret.
Neurologic conditions affecting the cardiovascular system
1990, Current Problems in Cardiology
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From the Department of Pathology, Cornell University Medical Center, New York, New York 10021.