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Myocardial and Pericardial Disease: Difference between revisions
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Myocardial and Pericardial Disease (view source)
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:: Repeated phlebotomy is the cornerstone of hemochromatosis treatment, although chelating agents such as deferoxamine may be considered. Early detection of the disease is critical, as depletion of iron overload may result in complete reversal of symptoms at this stage. Evidence was found that a threshold exists beyond which permanent damage is pertinent, at which stage iron depletion does not result in recovery of function. At end-stage disease, heart transplantation is a viable option with good survival rates. Importantly, screening of first degree relatives is pertinent to ensure early detection of hereditary forms of hemochromatosis. | :: Repeated phlebotomy is the cornerstone of hemochromatosis treatment, although chelating agents such as deferoxamine may be considered. Early detection of the disease is critical, as depletion of iron overload may result in complete reversal of symptoms at this stage. Evidence was found that a threshold exists beyond which permanent damage is pertinent, at which stage iron depletion does not result in recovery of function. At end-stage disease, heart transplantation is a viable option with good survival rates. Importantly, screening of first degree relatives is pertinent to ensure early detection of hereditary forms of hemochromatosis. | ||
===== Fabry disease (angiokeratoma corporis diffusum universale) ===== | |||
Fabry disease is an inheritable deficiency of the lysosomal alpha-galactosidase A, resulting in an accumulation of glycosphingolipids in the lysosomes. There is a wide variety of know mutations, which all result in a different level of alpha-galactosidase inactivity, and hence, clinical manifestation may range from isolated myocardial disease to systemic involvement. | |||
Patients may suffer from angina pectoris and myocardial infarction due to the accumulation of the aforementioned lipids in the endothelium of the coronary arteries, but the epicardial vessels show no abnormalities on angiography. Ventricular function is hampere due to thickening of the ventricular walls, which results in impaired diastolic compliance, with a preserved systolic function, which may even precede myocardial hypertrophy. Other common features of the disorder include systemic hypertension, congestive heart failure, and mitral valve prolapse. | |||
The surface electrocardiogram may reveal a short PR interval, atrioventricular block, and ST-segment and T wave abnormalities. Echocardiography may be inconclusive, but CMR imaging may differentiat Fabry disease from other infiltrative processes. Definite diagnosis is made on endomyocardial biopsy. | |||
Treatment of Fabry is safe and effective, and consist of enzyme-replacement therapy. | |||
===== Gaucher Disease ===== | |||
Gaucher disease is an inheritable deficiency of beta-glucosidase, resulting in accumulation of cerebrosides. Cardiac involvement results in impaired cardiac function due to reduced chamber compliance. | |||
Treatment of Gaucher disease consists of enzyme replacement therapy, or hepatic transplantation as a last resort. Response to treatment with respect to recovery of symptoms may vary. | |||
===== Glycogen storage disease ===== | |||
Glycogen storage disease may result in cardiac involvement in case of type II, III, IV and V, but survival until adulthood is rare except for type III disease. Cardiac involvement is characterized by left ventricular hypertrophy, electrographically and echocardiographically, but symptoms are frequently absent. | |||
=== Endomyocardial === | |||
==== Endomyocardial fibrosis ==== | |||
Endomyocardial fibrosis is an important cause of congestive heart failure in equatorial Africa. Studies have shown prevalence up to 20% of the population, mostly familial in children or young adults, and symptoms occurred in a minority of detected cases. The disease predominantly occurs in black individuals, but may rarely present in white subjects. | |||
Fibrous lesions hamper cardiac function by impairing the inflow of the ventricles, affecting the left or both ventricles most frequently. Solitaire right-sided involvement is less frequent occurring in approximately 10% of cases. Symptoms are concordant with the ventricles involved, an atrial fibrillation and ascites are known factors associated with a poor prognosis. | |||
Clinical diagnosis is based upon clinical presentation, lab testing, and angiography. Left-sided myocardial biopsy is relatively contraindicated, as it may result in systemic emboli. | |||
Endomyocardial fibrosis is a relentless disease, half of patients not making it beyond 2 years after detection, depending on the extent of symptoms at presentation. Medical management is only effective in the early stages of the disease, and is aimed at relief of symptoms. Surgical correction of the results of the disease, i.e. valve replacement, improves hemodynamic characteristics, but mortality is high. Fibrosis may reoccur, but long-term survival can be good. | |||
==== Hypereosinophilic syndrome: Löffler Endocarditis ==== | |||
The hypereosinophilic syndrome is a systemic disease, involving several organ systems. Cardiac involvement, Löffler endocarditis, is usually present when eosinophil counts are high for a longer period of time. The eosinophilia itself may occur from several different causes. | |||
Histopathology shows eosinophilic myocarditis extending into the subendocardium, endocardial thickening and inflammation of the small intramural coronary vessels. | |||
Clinical features of the disease are weight loss, cough, fever, and a rash. Cardiac involvement may retain asymptomatic in the early stages of the disease, but as the disease progresses as much as 50% of patients develop cardiomegaly or congestive heart failure. | |||
Clinical features of the disease are weight loss, cough, fever, and a rash. Cardiac involvement may retain asymptomatic in the early stages of the disease, but as the disease progresses as much as 50% of patients develop cardiomegaly or congestive heart failure. | |||
Routine care applies to these patients. Diuretics, and neurohumoral blockade are appropriate, as is anticoagulation. Corticosteroids and cytotoxic drugs increase survival in patients with Löffler endocarditis, and interferon may be used as a last option in refractory patients. Surgical therapy may be considered as palliative treatment in the fibrotic fase of the disease. | |||
==== Arrythmic cardiomyopathy ==== | |||
==== Unclassified Cardiomyopathy ==== | |||
Left ventricular non-compaction | |||
==== Secondary cardiomyopathies ==== | |||
Nine different subgroups of secondary myocardial disease exist, which are defined as diseases of the myocardium with a known cause. | |||