Cardiomyopathies ; diagnosis ; etiology ; therapy ; Humans

Most patients with liver cirrhosis have hyperdynamic circulatory alterations with increased cardiac output, and decreased systemic vascular resistance and arterial pressure. But, in spite of the increased resting cardiac output, ventricular contractile response to stressful stimuli is attenuated in cirrhotic patients which is termed as cirrhotic cardiomyopathy. The prevalence of cirrhotic cardiomyopathy remains unknown at present. Clinical features include structural, histological, electrophysiological, systolic and diastolic dysfunction. Multiple factors are considered as responsible, including impaired beta-adrenergic receptor signal transduction, abnormal membrane biophysical characteristics, and increased activity of cardiodepressant systems mediated by cGMP. Generally, cirrhotic cardiomyopathy with overt severe heart failure is rare. However, major stresses on the cardiovascular system such as liver transplantation, infections and insertion of transjugular intrahepatic portosystemic shunts (TIPS) can unmask the presence of cirrhotic cardiomyopathy and thereby convert latent to overt heart failure. Cirrhotic cardiomyopathy may also contribute to the pathogenesis of hepatorenal syndrome and circulatory failure in liver cirrhosis. Because of the marked paucity of treatment studies, current recommendations for management are empirical, nonspecific measures. Further studies for pathogenesis and new therapeutic strategies in this area are required.
Cardiomyopathies/*diagnosis/*etiology/therapy ; Humans ; Liver Cirrhosis/*complications ; Prognosis

Pheochromocytoma is a rare disorder and functioning tumor composed of chromaffin cells that secrete catecholamines. Patients with a pheochromocytoma 'crisis' have a high mortality in spite of aggressive therapy. We present a case with a severe acute catecholamine cardiomyopathy presenting ST segment elevation with cardiogenic shock after hemorrhage into a left suprarenal tumor. Intra-aortic balloon pump (IABP) support, combined with inotropic therapy, was performed. However, the patient deteriorated rapidly and was unresponsive to a full dose of inotropics and IABP. We decided to apply extracorporeal membrane oxygenation (ECMO) device for the patient. His clinical state began to improve 3 days after ECMO. After achieving hemodynamic stabilization, he underwent successful laparoscopic left adrenalectomy. He needed no further cardiac medication after discharge.
Adrenal Glands/pathology ; Adult ; Cardiomyopathies/*diagnosis/*etiology ; Catecholamines/*adverse effects ; Coronary Angiography/methods ; Diagnosis, Differential ; Electrocardiography/methods ; Extracorporeal Membrane Oxygenation/*methods ; Humans ; Intra-Aortic Balloon Pumping ; Male ; Myocardial Infarction/*diagnosis ; Pheochromocytoma/*therapy ; Time Factors ; Tomography, X-Ray Computed/methods

OBJECTIVECarnitine deficiency has been associated with progressive cardiomyopathy due to compromised energy metabolism. The objective of this study was to investigate clinical features of carnitine deficiency-induced cardiomyopathy and the therapeutic efficacy of L-carnitine administration.

METHODBetween January 2010 and December 2011, filter-paper blood spots were collected from 75 children with cardiomyopathy. Free carnitine and acylcarnitine profiles were measured for each individual by tandem mass spectrometry (MS/MS). For those in whom carnitine deficiency was demonstrated, treatment was begun with L-carnitine at a dose of 150 - 250 mg/(kg·d). Clinical evaluation, including physical examination, electrocardiography, chest x-ray, echocardiography and tandem mass spectrometry, was performed before therapy and during follow-up.

RESULTOf 75 cardiomyopathy patients, the diagnosis of carnitine deficiency was confirmed in 6 patients, which included 1 boy and 5 girls. Their age ranged from 0.75 to 6 years. Free carnitine content was (1.55 ± 0.61) µmol/L (reference range 10 - 60 µmol/L). Left ventricular end-diastolic diameter (LVDd) was (5.04 ± 0.66) cm and left ventricular ejection fraction (LVEF) was (38.5 ± 10.5)%. After 10 - 30 d therapy of L-carnitine, free carnitine content rose to (30.59 ± 15.02) µmol/L (t = 4.79, P < 0.01). LVDd decreased to (4.42 ± 0.67) cm (t = 4.28, P < 0.01) and LVEF increased to (49.1 ± 7.6)% (t = 6.59, P < 0.01). All patients received follow-up evaluations beyond 6 months of treatment. Clinical improvement was dramatic. LVEF returned to normal completely in all the 6 patients. LVDd decreased further in all the 6 patients and returned to normal levels in 3 patients. No clinical signs or symptoms were present in any of the 6 patients. The only complications of therapy had been intermittent diarrhea in 1 patient.

CONCLUSIONTandem mass spectrometry is helpful to diagnose carnitine deficiency and should be performed in all children with cardiomyopathy. L-carnitine has a good therapeutic effect on carnitine deficiency-induced cardiomyopathy.

Adolescent ; Cardiomyopathies ; diagnosis ; drug therapy ; etiology ; Cardiotonic Agents ; administration & dosage ; therapeutic use ; Carnitine ; blood ; deficiency ; therapeutic use ; Child ; Child, Preschool ; Electrocardiography ; Female ; Follow-Up Studies ; Humans ; Infant ; Male ; Retrospective Studies ; Tandem Mass Spectrometry ; Treatment Outcome ; Ventricular Function, Left ; drug effects