A 3-week-old girl with failure to thrive and cardiomegaly died of cardiac arrest at age 4 weeks. Morphologic studies of the heart showed enlarged muscle fibers with large accumulations of mitochondria, characteristic of histiocytoid cardiomyopathy. Biochemical studies showed markedly decreased succinate-cytochrome c reductase and rotenone-sensitive NADH-cytochrome c reductase activities, while other mitochondrial enzymes were normal. In isolated mitochondria, cytochrome spectra showed a severe defect of reducible cytochrome b and a less marked defect of cytochrome cc1, while the content of cytochrome aa3 (cytochrome c oxidase) was normal. Histiocytoid cardiomyopathy appears to be due to a defect of complex III (reduced coenzyme Q-cytochrome c reductase) in the respiratory chain of heart mitochondria.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1203/00006450-198410000-00023 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Conduction System Hamartoma: Autopsy Case Series.
Am J Forensic Med Pathol
September 2024
Basildon University Hospital, Mid and South Essex NHS Foundation Trust, Basildon, United Kingdom.
Conduction system hamartoma is a benign hamartomatous lesion arising from Purkinje and Purkinje-like cells of the heart. We aimed to investigate the cases that we detected during postmortem histopathological examination. The histopathology reports of the cases autopsied between 2012 and 2022 were reviewed retrospectively.
View Article and Find Full Text PDFCase report: severe hypertrophic cardiomyopathy in a female neonate caused by variant in .
Eur Heart J Case Rep
August 2024
Children's Institute Department of Heart, Vascular, and Thoracic, Cleveland Clinic, Cleveland, OH, USA.
Background: Hypertrophic cardiomyopathy in the neonate has a diverse genetic background, and non-sarcomeric variants may not be identified on commercial genetic testing panels. NDUFB11 is an X-linked mitochondrial Complex I protein and is known to cause histiocytoid cardiomyopathy but has not been described in female infants with hypertrophic cardiomyopathy. We present this first reported case of obstructive hypertrophic cardiomyopathy in a female neonate secondary to a pathogenic variant in NDUFB11.
View Article and Find Full Text PDFCase report: high-dose carvedilol as a potential key drug for arrhythmias in histiocytoid cardiomyopathy.
Eur Heart J Case Rep
December 2023
Department of Pediatric Cardiology, National Cerebral and Cardiovascular Center Hospital, 6-1 Kishibeshimmachi, Suita, 5648565 Osaka, Japan.
Background: Histiocytoid cardiomyopathy is a rare infancy cardiac disorder manifesting as severe cardiac arrhythmias or dilated cardiomyopathy. There is no specific treatment for these arrhythmias. This is the first report of infantile histiocytoid cardiomyopathy whose refractory ventricular arrhythmias were successfully controlled by high-dose carvedilol.
View Article and Find Full Text PDFHistiocytoid cardiomyopathy presenting as sudden death in an 18-month-old infant.
Forensic Sci Med Pathol
September 2024
Victorian Institute of Forensic Medicine, Melbourne, VIC, Australia.
Histiocytoid cardiomyopathy (HC) is an arrhythmogenic disorder, usually involving children under two years of age with a strong Caucasian and female predominance. The disease is fatal in the vast majority and diagnosis is nearly always established at autopsy, but this is only possible with adequate myocardial sampling. Meticulous gross and histological examination of the heart in collaboration with a cardiovascular-trained pathologist maximises the opportunity to make specific diagnoses (and therefore rule out the differentials of SIDS, SUDC and child abuse), guide genetic testing, and inform potentially life-saving medical interventions for blood relations.
View Article and Find Full Text PDFBiventricular Assist Device Support for Intractable Arrhythmias From Histiocytoid Cardiomyopathy.
ASAIO J
November 2022
From the Pediatric Cardiology, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois.
Histiocytoid cardiomyopathy (HICMP) is a rare mitochondrial cardiomyopathy associated with recurrent life-threatening arrhythmias and variable degrees of systolic dysfunction. Successful heart transplantation for HICMP has been described, but there has been no published experience with biventricular assist device (BiVAD) support for intractable arrhythmias in HICMP. We report a 13 month old girl with left ventricular noncompaction and preserved systolic function who presented in cardiogenic shock secondary to incessant ventricular arrhythmias.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!