Cardiomyopathy clinical presentation

The diagnosis of anthracycline cardiomyopathy is based on the clinical presentation and investigations such as... 

Clinically, VLCAD can be divided into mild and severe variants. In our series, the severe group comprised patients with evidence of cardiomyopathy at presentation or cardiomyopathy in a previously affected sibling and/or early presentation (3 days to 3 months of life) with generally a poor clinical outcome. The mild group contained two adult presentations with predominantly skeletal muscle involvement and four children (two pairs of affected siblings from two families) surviving with relatively Httle clinical intervention in the early years. 

CPTl deficiency (14.2) has only hepatic involvement cardiomyopathy is absent. The clinical presentation is rather homogenous with recurrent episodes of hepatic dysfunction, often accompanied by hypoglycemia. Many patients develop renal tubular acidosis (unexplained) [2]. This is one of the defects in which the mother of a patient may experience acute fatty liver of pregnancy [3]. Plasma-free carnitine is reportedly increased, but normal values have been observed. Dicarboxylic aciduria is a rarity. 

An experimental study into the mechanism of action of enoximone in 14 patients with ischaemic or idiopathic dilative cardiomyopathy found that pretreatment with intravenous aminophylline 7 mg/kg given over 15 minutes reduced the beneficial haemodynamic eflects of intravenous enoximone 1 mg/kg given over 15 minutes. This appears to occur because each drug competes for inhibition of cAMP specific phosphodiesterases in cardiac and vascular smooth muscle. Milrinone, another phosphodiesterase inhibitor similar to enoximone, would be expected to interact in the same way. However, there are, at present, no published reports of a possible interaction with milrinone, and no case reports of a problem occurring with the concurrent use of either drug with theophylline. The clinical importance of this study therefore awaits evaluation. 

While several oncologic drugs have been associated with cardiomyopathy, anthracyclines such as daunorubicin and doxorubicin are salient examples. Anthracycline-induced cardiotoxicity may be defined as acute, early-onset chronic, and late-onset chronic (Cardinale et al. 2015). Acute cardiotoxicity occurs after a single dose, or a single course, of anthracyclines, and the onset of clinical manifestations is within 2 weeks from the end of treatment. Early-onset chronic toxicity develops within 1 year, and is the most frequent and clinically relevant form of cardiotoxicity. It usually presents as a dilated and hypokinetic cardiomyopathy leading to heart failure. Late-onset chronic cardiotoxicity develops years, or even decades, after the end of chemotherapy (Cardinale et al. 2015). 

Cardiovascular toxicities have been observed in patients with a number of anticancer agents. These toxicities have included hypertension, cardiomyopathy, left ventricular dysfunction, congestive heart failure, infarction, and thrombosis. In most cases, the standard repeated-dose toxicology studies conducted in normal animals have failed to predict these clinical toxicities. One reason may be that other comorbidities need to be present before the treatment-related cardiovascular... 

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