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BACKGROUND: Left ventricular hypertrabeculation (LVHT)/non-compaction, a rare myocardial abnormality and frequently associated with neuromuscular disorders, has not been reported in primary myoadenylate-deaminase (MAD) deficiency (MADD). CASE REPORT: In a 53-year-old man with easy fatigability and myalgia since boyhood, primary MADD was diagnosed based upon slightly, but recurrently elevated creatine-kinase, absent staining for MAD on muscle biopsy, markedly reduced MAD activity in the muscle homogenate, and the C34T mutation within exon 2 of the AMPD1 gene. An ambulatory ECG showed nocturnal sinus bradycardia and echocardiography thickening of the interventricular septum (20 mm) and the posterior wall (16 mm) and additionally LVHT. Cardiac MRI confirmed myocardial thickening and LVHT. Myocardial thickening and LVHT were regarded as causally related to the C34T mutation. CONCLUSION: Cardiac involvement in MADD may manifest as left ventricular myocardial thickening and LVHT. MADD should be included in the list of neuromuscular disorders which are associated with LVHT. 相似文献
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A 32-year-old young male was found to have non-sustained, repetitive, monomorphic ventricular tachycardia of right bundle branch morphology during routine pre-anaesthetic evaluation for orthopaedic surgery. Echocardiography and left ventricular angiogram were suggestive of isolated non-compaction of left ventricular apex with systolic dysfunction. He was successfully managed with anti-arrhythmic drugs and had an uneventful 9-month follow-up. The index case is an unusual association of asymptomatic, non-sustained ventricular tachycardia with isolated ventricular non-compaction. 相似文献
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Kurita Tairo; Onishi Katsuya; Ogawa Tomoko; Kasai Atsunobu; Sakuma Hajime; Ito Masaaki 《European heart journal》2008,29(4):569
A 61-year-old woman without any symptoms referred for evaluationof an abnormal ECG obtained at a routine check-up. Physicalexamination revealed no abnormal findings. A 12-lead ECG showedcomplete 相似文献
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Isolated left ventricular non-compaction is a rare congenital cardiomyopathy. Patients frequently present with signs of heart failure and dyspnea on exertion. Myocardial perfusion tests using single photon emission computed tomography are frequently used for evaluation of ischemia. In this case report we present myocardial perfusion images of isolated left ventricular non-compaction from a patient who was referred to our center for evaluation of dyspnea on exertion. 相似文献
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Left-ventricular non-compaction may be isolated or associated with other cardiac or noncardiac anomalies. Left-ventricular non-compaction associated with left ventricular diverticulum is very rare. We describe a 30 year-old pregnant woman with a long standing diagnosis of biventricular non-compaction in whom a hidden left ventricular apical diverticulum was detected on transthoracic echocardiography. Both these conditions increase the risk of thromboembolism. Additionally, she was also diagnosed to have endocervical adenocarcinoma. This case suggests that a comprehensive echocardiographic examination is mandatory in cases of suspected isolated left-ventricular non-compaction to detect any other associated cardiac or noncardiac anomalies. 相似文献
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Szymanski C Otmani A Leborgne L Quenum S Bakkour H Bertrand C Rey JL 《Annales de cardiologie et d'angeiologie》2007,56(6):319-323
We report a case of a 55-year-old woman who has a non-compaction of the left ventricular myocardium diagnosed after a cardiac arrest due to a polymorphic ventricular tachycardia. The patient was implanted with a cardioverter-defibrillator. A review of literature of this recently described cardiopathy is done. 相似文献
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Isolated left ventricular non-compaction (LVNC) is a genetic disease that is being increasingly recognised in patients presenting with heart failure of unknown origin. In this case report, we describe a patient with classic LVNC without clinical heart failure and with normal left ventricular ejection fraction. 相似文献
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Karamitsos TD Bull S Spyrou N Neubauer S Selvanayagam JB 《International journal of cardiology》2008,128(1):e34-e36
Tako-tsubo cardiomyopathy is a poorly understood syndrome. We report a case of a 76-year-old female patient with apical ballooning syndrome and features of left ventricular non-compaction that was followed up by Cardiovascular Magnetic Resonance (CMR) imaging. 相似文献
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L Coelho A M da Silva R Martins A Sá e Melo L A Providência 《Revista portuguesa de cardiologia》2000,19(6):727-731
Noncompaction of the ventricular myocardium, also known as "spongy myocardium", is a rare congenital abnormality resulting from an arrest in the normal endomyocardial embryogenesis. The echocardiographic findings consist of multiple, prominent myocardial trabeculations and deep intratrabecular recesses in communication with the left ventricular cavity. This entity is a not well known cause of dilated cardiomyopathy. Some cases were described as X-linked familial forms. We report the clinical case of a 13-year-old female patient with severe left ventricular disfunction, a very trabeculated left ventricle on echocardiography and two admissions in class IV heart failure. 相似文献
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Heterotaxy syndrome with left ventricular non-compaction is a rare co-existence of abnormalities with unknown cause. It can be isolated with no other associations, or associated with congenital heart diseases, or it can occur with multiple other congenital abnormalities. We describe the third reported case of heterotaxy syndrome with left ventricular non-compaction presenting in an adult. 相似文献
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Szulik M Lenarczyk A Rycaj J Białkowski J Dziubek B Kalarus Z Kukulski T 《Kardiologia polska》2006,64(12):1422-1425
We describe a case of a neonate who developed cardiogenic shock 24 days after birth. Echocardiography revealed congenital anomaly--isolated non-compaction of the left ventricular myocardium. Medical treatment was effective. The whole clinical presentation suggests the Barth syndrome. The diagnosis and treatment of this condition are discussed. 相似文献