Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A 64-year-old woman presented with acute congestive heart failure and atrial fibrillation, with good response to medical management. Selective coronary and left ventricular cineangiography demonstrated multiple arteriosystemic connections arising from both left and right coronary arteries, but normal (although tortuous) coronary vessels and ventricular contraction pattern. Determination of the magnitude of the shunt flow and concommitant measurement of myocardial lactate extraction suggested that this type of coronary vascular abnormality was an angiographic curiosity without discernible clinical import; however, the etiology of the patient's heart disease remains an enigma.
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PMID:Determination of shunt flow in a case of multiple arteriosystemic connections. 83 36

Acute rheumatic fever (ARF) is an inflammatory disease of the heart, joints, CNS, and subcutaneous tissue that develops after a pharyngeal infection by one of the group A beta-hemolytic streptococci (Streptococcus pyogenes). The pathogenesis of the disease remains an enigma and specific treatment is not available, yet prevention of initial and recurrent attacks is possible by penicillin treatment. Rheumatic fever is especially important because of the heart disease that usually ensues; as succinctly stated by Lasegue many years ago, rheumatic fever "licks the joints and bites the heart", a statement that holds true today. Rheumatic fever is no longer a significant health problem in most socioeconomically advanced countries but it still causes 25-40% of all cardiovascular disease in the world, including tropical countries where it was once believed to be rare. In many countries it causes more hospital admissions than congenital heart conditions.ARF and rheumatic heart disease - with high associated morbidity, cost, and mortality - are largely preventable. Importantly, recurrences of rheumatic fever with their increased likelihood of more severe carditis are inexpensively preventable. Primary prevention has been achieved innovatively in some countries, for example, Costa Rica, and more conventionally in some developed countries. Treatment of the acute episode controls symptoms and may limit cardiac damage.
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PMID:Acute rheumatic fever in children: recognition and treatment. 1561 37

To this day the aetiology of sarcoidosis continues to elude definition. Partially as a consequence of this, little in the way of new therapies has evolved. The enigma of this condition is that, unusually for a disease with the potential for devastating consequences, many patients show spontaneous resolution and recover. Cardiac involvement can affect individuals of any age, gender or race and has a predilection for the conduction system of the heart. Heart involvement can also cause a dilated cardiomyopathy with consequent progressive heart failure. The most common presentation of this systemic disease is with pulmonary infiltration, but many cases will be asymptomatic and are detected on routine chest radiography revealing lymphadenopathy. Current advances lie in the newer methods of imaging and diagnosing this unusual heart disease. This review describes the pathology and diagnosis of this condition and the newer imaging techniques that have developed for determining cardiac involvement.
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PMID:Sarcoid heart disease. 1791 69

Preterm labor (PTL) is an important cause of preterm delivery. The trigger initiating the process toward overt labor and parturition is poorly understood and the molecular basis remains an enigma. It recently emerged that the overall occurrence of PTL in pregnant women with congenital heart disease (CHD) is increased. In this review, we present data on pregnancy in women with CHD and the opportunities this provides for research on the initiating mechanisms of inappropriately premature contractions. This may provide means for early detection of women at high risk of PTL in the general population, with models using cervical length, novel biomarkers, and maternal factors. We discuss human embryonic development of the heart and the uterus and the molecular pathways shared by the cardio- and uteromyocytes. We propose 2 hypotheses for the co-occurrence of maternal CHD and PTL; one based on a shared genetic origin and the other on a shared epigenetic origin.
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PMID:The clinical and molecular relations between idiopathic preterm labor and maternal congenital heart defects. 2259 46

Kawasaki disease (KD) is a leading cause of acquired heart disease in children in developed countries. Although it has been thought that symptoms of KD are related to hyperactivation of the immune system triggered by infection with some microorganisms, the etiological agent still remains unknown. In this situation, genetic factors underlying the disease pathogenesis, which have been suggested by epidemiological findings, are expected to be clues to the enigma. Recently, susceptibility genes for KD have been identified in succession by studies with a genome-wide approach. Recent advances in genetic studies for KD will be presented.
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PMID:Genetics of Kawasaki disease: what we know and don't know. 2278 75

As the most common cause of death and disability, globally, heart disease remains an incompletely understood enigma. A growing number of cardiac diseases are being characterized by the presence of misfolded proteins underlying their pathophysiology, including cardiac amyloidosis and dilated cardiomyopathy (DCM). At least nine precursor proteins have been implicated in the development of cardiac amyloidosis, most commonly caused by multiple myeloma light chain disease and disease-causing mutant or wildtype transthyretin (TTR). Similarly, aggregates with PSEN1 and COFILIN-2 have been identified in up to one-third of idiopathic DCM cases studied, indicating the potential predominance of misfolded proteins in heart failure. In this review, we present recent evidence linking misfolded proteins mechanistically with heart failure and present multiple lines of new therapeutic approaches that target the prevention of misfolded proteins in cardiac TTR amyloid disease. These include multiple small molecule pharmacological chaperones now in clinical trials designed specifically to support TTR folding by rational design, such as tafamidis, and chaperones previously developed for other purposes, such as doxycycline and tauroursodeoxycholic acid. Last, we present newly discovered non-pathological "functional" amyloid structures, such as the inflammasome and necrosome signaling complexes, which can be activated directly by amyloid. These may represent future targets to successfully attenuate amyloid-induced proteotoxicity in heart failure, as the inflammasome, for example, is being therapeutically inhibited experimentally in autoimmune disease. Together, these studies demonstrate multiple novel points in which new therapies may be used to primarily prevent misfolded proteins or to inhibit their downstream amyloid-mediated effectors, such as the inflammasome, to prevent proteotoxicity in heart failure.
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PMID:Functional Amyloid Signaling via the Inflammasome, Necrosome, and Signalosome: New Therapeutic Targets in Heart Failure. 2666 97

It has been 50 years since the legendary Japanese pediatrician, Dr Tomisaku Kawasaki, published his classic paper in 1967. Little was he to know at that time that this condition would not only be known after his name but would also become the commonest cause of acquired heart disease in children in most of the developed world. The etiology of this condition continues to remain an enigma, and the diagnosis is still based on a set of criteria that are entirely clinical. All pediatricians must be familiar with the various clinical presentations of this disease because delays in diagnosis and treatment can have disastrous consequences.
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PMID:Fifty Years of Kawasaki Disease - A Tribute to Dr Tomisaku Kawasaki. 2931 59