Noncompaction of the ventricular myocardium is an increasingly recognized unclassified congenital cardiomyopathy that is frequently misdiagnosed as dilated or apical hypertrophic cardiomyopathy. Coexistence of myocardial noncompaction and myocardial bridging might be a pitfall in the diagnosis of myocardial noncompaction as previous reports have very well elucidated the coexistence of apical hypertrophic cardiomyopathy and myocardial bridging. With this report we aimed to emphasize the significance of watchful echocardiographic evaluation in appropriate diagnosis of myocardial noncompaction.
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http://dx.doi.org/10.1016/j.ijcard.2008.01.007 | DOI Listing |
Int J Mol Sci
December 2024
Research Center of Biotechnology, A.N. Bach Institute of Biochemistry, Russian Academy of Sciences, Moscow 119071, Russia.
Pediatric dilated cardiomyopathy (DCM) is a rare heart muscle disorder leading to the enlargement of all chambers and systolic dysfunction. We identified a novel de novo variant, c.88A>G (p.
View Article and Find Full Text PDFAm J Emerg Med
December 2024
Center for Rehabilitation Medicine, Department of Neurology, Zhejiang Provincial People's Hospital, Affiliated People's Hospital, Hangzhou Medical College, Hangzhou, Zhejiang, China. Electronic address:
Background: Cerebral infarction associated with myocardial hypertrabeculation is a rare condition that requires optimal management to reduce the risk of thromboembolism and stroke. As intravenous thrombolysis (IVT) is a standard treatment for acute ischemic stroke, it is important to investigate whether it is safe and effective in patients with this rare condition.
Case Report: Four patients with cerebral infarction associated with myocardial hypertrabeculation were included.
BMC Cardiovasc Disord
November 2024
Department of Cardiovascular Medicine, Children's Hospital of Chongqing Medical University, Chongqing, China.
Background: The absence of other structural heart disease is a prerequisite for the diagnosis of non-compaction of the ventricular myocardium (NVM). We also observed that the phenomenon of non-compaction in ventricular muscle in some large patent ductus arteriosus (PDA) patients in children. This study was aimed to explore the prognosis of NVM associated with large PDA in children and provide a better understanding of the interplay between genetic and hemodynamic factors that lead to the phenotype of NVM.
View Article and Find Full Text PDFBMJ Case Rep
November 2024
Neonatology, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
Barth syndrome (BTHS) is one of the rare X linked recessive diseases that appear in infancy with a triad of myocardial and skeletal muscle diseases, neutropenia and growth retardation. The pathogenic variant of gene leads to BTHS, which encodes the TAFAZZIN protein of the inner membrane of the mitochondria, a phosphatidyltransferase involved in cardiolipin remodelling and functional maturation. We present a case of a neonate presenting with early-onset cardiomyopathy, neutropenia and failure to thrive with no family history of cardiac diseases.
View Article and Find Full Text PDFJ Int Med Res
November 2024
Department of Cardiology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei Province, China.
Desmin is a type III intermediate filament protein specifically expressed in muscle cells, which is encoded by the gene. Defects in the desmin protein and cytoskeletal instability may interfere with cardiac muscle conduction signals, a fundamental mechanism for arrhythmias in patients with desmin-related myopathy. This current case report presents a female patient in her early 20s who presented with early-onset complete atrioventricular block and complete left bundle branch block over the previous decade.
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