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A novel gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report.
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Department of Cardiac, Vascular and Endovascular Surgery and Transplantology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, Silesian Center for Heart Diseases in Zabrze, Zabrze, Poland.
Introduction: Barth syndrome (BTHS) is an ultra-rare genetic disease caused by a mutation in the gene, located on the X chromosome. This gene codes for the protein tafazzin, which is involved in the metabolism of the mitochondrial phospholipid - cardiolipin. Symptoms of this genetic defect include dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth retardation, reduced cholesterol levels, increased serum lactic acid levels, and hypoglycemia in the neonatal period.
View Article and Find Full Text PDFSurgical Repair Of Severe Mitral And Tricuspid Valve Regurgitation In Patient With Left Ventricle Noncompaction - A Case Report.
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Department of Cardiovascular & Thoracic Surgery, U. N. Mehta Institute of Cardiology and Research Center, Civil Hospital Campus, Asarwa, Ahmedabad, Gujarat, India.
Left ventricular non-compaction (LVNC) cardiomyopathy is a rare congenital cardiomyopathy which is characterized by prominent and extensive trabeculation and deep intertrabecular recesses communicating with left ventricular cavity. Here we present a rare case report of patient with severe secondary Mitral regurgitation (MR) and severe tricuspid regurgitation (TR) in LVNC cardiomyopathy who underwent MV Repair using ring annuloplasty with #28 CG future ring and kay's suture annuloplasty for severe TR and its postoperative management. Patient recovered well after surgery and was discharged with improved hemodynamics.
View Article and Find Full Text PDFComplete Myocardial Bridging.
JACC Case Rep
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Division of Interventional and Structural Cardiology, Houston Methodist Hospital, Houston, Texas, USA.
Background: Myocardial bridging is an anatomical variant in which coronary arteries course within the myocardium rather than on the epicardial surface. Complete intramyocardial coronary systems are extremely rare and can lead to significant clinical consequences.
Case Summary: An 18-year-old man with left ventricular noncompaction cardiomyopathy experienced chest pain and syncope while playing basketball, and was subsequently diagnosed with ST-segment elevation myocardial infarction.
Decreased Aortic Elasticity in Noncompaction Cardiomyopathy Compared to Dilated Cardiomyopathy.
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Department of Cardiology, Office RG-431, Thoraxcenter, Cardiovascular Institute, ErasmusMC University Medical Center, Dr. Molewaterplein 40, 3015 GD Rotterdam, The Netherlands.
Abnormal aortic elasticity serves as a marker for cardiovascular mortality and has a negative impact on the left ventricular (LV) afterload. Noncompaction cardiomyopathy (NCCM) is characterized by hypertrabeculation of the LV endomyocardial wall, with an underdeveloped endocardial helix. This may result in absence of LV twist, disturbed aortic elasticity, LV dysfunction, and ultimately premature heart failure (HF).
View Article and Find Full Text PDF[When rarity duplicates: myocardial non-compaction and single coronary artery, an association not to be underestimated].
G Ital Cardiol (Rome)
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U.O.C. Cardiologia, Ospedale Guglielmo da Saliceto, Azienda Sanitaria Locale di Piacenza.
Noncompaction myocardium (NCM) is a rare cardiac condition characterized by prominent trabeculation, associated with an increased risk of heart failure, arrhythmias, and embolism. We report the case of a 46-year-old man, smoker, with a family history of sudden cardiac death, who presented to the emergency department with progressive dyspnea. Echocardiography revealed dilated cardiomyopathy with severe biventricular dysfunction and marked apical trabeculation of the left ventricle.
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