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)

Anderson--Fabry's disease is an hereditary disease with an X-linked genetic transmission, caused by the congenital deficiency of the lysosomial enzyme alpha-galactosidase A. It is a rare disease, but the estimated 1 patient every 117.000 male population is increasing and this can be demonstrated by simplifying the dosage techniques for the enzyme. The clinical picture comes from the accumulation of glycosphingolipids in many organs, mainly vessels, heart, nervous tissue, kidney and sight. The histological lesion appears as damage to the lysosomial membrane with subsequent migration of the lipid corpuscles into the cytoplasm and the breakdown of metabolic cellular activities. Prior to the advent of enzyme replacement therapy, which is based on the administration of the recombinant enzyme, the course of the disease was certainly fatal (early death by ictus or ischemic cardiopathy, terminal kidney failure). Despite the positive results achieved, information obtained from the present observation research should be help to verify the validity of the enzyme replacement therapy.
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PMID:[Fabry disease]. 1641 4

The Working Group on research in adult congenital heart disease (ACHD) was convened in September 2004 under the sponsorship of National Heart, Lung, and Blood Institute (NHLBI) and the Office of Rare Diseases, National Institutes of Health, Department of Health and Human Services, to make recommendations on research needs. The purpose of the Working Group was to advise the NHLBI on the current state of the science in ACHD and barriers to optimal clinical care, and to make specific recommendations for overcoming those barriers. The members of the Working Group were chosen to provide expert input on a broad range of research issues from both scientific and lay perspectives. The Working Group reviewed data on the epidemiology of ACHD, long-term outcomes of complex cardiovascular malformations, issues in assessing morphology and function with current imaging techniques, surgical and catheter-based interventions, management of related conditions including pregnancy and arrhythmias, quality of life, and informatics. After research and training barriers were discussed, the Working Group recommended outreach and educational programs for adults with congenital heart disease, a network of specialized adult congenital heart disease regional centers, technology development to support advances in imaging and modeling of abnormal structure and function, and a consensus on appropriate training for physicians to provide care for adults with congenital heart disease.
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PMID:Report of the National Heart, Lung, and Blood Institute Working Group on research in adult congenital heart disease. 1648 31

Pulmonary hypertension (PH) is a hemodynamic state characterized by elevation in the mean pulmonary arterial pressure and pulmonary vascular resistance leading to right ventricular failure and premature death. PH can be the result of a variety of diseases of different etiologies. Pulmonary arterial hypertension (PAH) should be distinctly differentiated from pulmonary venous hypertension (PVH) as a result of left heart disease. PAH is commonly caused by or associated with an underlying pulmonary, cardiac, or systemic disease (APAH). In the absence of an identifiable etiology or associated underlying disease, PAH is referred to as idiopathic (IPAH). IPAH, formerly known as primary pulmonary hypertension (PPH), is a rare disease most commonly seen in women of childbearing age. Presenting symptoms and signs are nonspecific and include dyspnea on exertion, fatigue, and a loud pulmonary component of the second heart sound. Transthoracic Doppler echocardiography is an excellent noninvasive test to detect the presence of pulmonary hypertension, although every patient should receive a right heart catheterization to confirm the diagnosis. A detailed work up, including laboratory tests and imaging studies, is also indicated to rule out known causes of pulmonary hypertension. Several targeted treatment options have become available in recent years and include parenteral and inhaled prostanoids, oral endothelin receptor antagonists, and oral phosphodiesterase type-5 inhibitors. As a result of their complex care, patients should be referred to centers with expertise in pulmonary hypertension.
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PMID:Pulmonary hypertension: evaluation and management. 1800 30

Anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital cardiac defect that usually presents as dilated cardiomyopathy in infancy. From 1984 to 2005, 13 (five males and eight females, 0.13%) out of 9,950 patients with congenital heart disease were identified as ALCAPA at our institute. Corrective surgery was performed at a median age of 9 months (range: 2 months to 5 years). Eleven patients underwent direct reimplantation of the left coronary artery (LCA) to the aorta, while two received extrapulmonary baffling. The overall survival rate was 92%. Only one patient died 5 months after reimplantation of the LCA due to acute myocardial ischaemia. Left ventricular ejection fraction (LVEF) was significantly lower in the eight (62%) patients operated during infancy than in those operated beyond 5 months (median: 35% vs. 75%). Left ventricle function was normalised in 11 patients (85%). Among the eight patients without concomitant mitral annuloplasty, mitral regurgitation (MR) improved to a mild or trivial degree in six patients and remained at the pre-operative level in two patients. Pathologic Q wave was noted in 11 patients, which eventually regressed in all except two cases. The median interval of recovery was 16 days, 6 months and 24 months for MR, LVEF and electrocardiogram (ECG) changes, respectively. In conclusion, ALCAPA is also a rare disease in Asian countries, such as Taiwan. The subsequent recovery of MR, left ventricular (LV) function and even pathologic Q wave can be expected after dual coronary repair, regardless of the age at repair.
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PMID:Resolution of pathologic Q wave, left ventricular dysfunction and mitral regurgitation after dual coronary repair of the anomalous origin of the left coronary artery from the pulmonary artery. 1831 4

Mitral-aortic intervalvular fibrosa aneurysm is a rare disease whose aetiology remains a matter of debate. Here we present the youngest reported patient with the disease, a 6-month-old boy, without a history of infection, which supports a congenital origin as initially proposed. Multidetector-row CT (MDCT) surpassed echocardiography in delineating the intracardiac anatomical details with high spatial resolution, confirming the important problem-solving role of MDCT in the diagnosis of congenital heart disease.
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PMID:MDCT evaluation of congenital mitral-aortic intervalvular fibrosa aneurysm: implications for the aetiology and differential diagnosis. 1894 68

The anomalous origin of the left pulmonary branch known as pulmonary artery sling (PAS) is a rare form of vascular ring, a congenital heart disease in which the left pulmonary artery originates from the right pulmonary artery and runs posterior to the trachea, encircling it, and goes leftwards between the trachea and oesophagus to reach the left pulmonary hilum. The clinical outcome depends on the associated tracheal lesions and cardiac anomalies. The majority of patients (90%) have respiratory symptoms in the first year of life, due to tracheal stenosis (chronic stridor and wheezing), and with a high mortality rate if there is no surgical intervention. Other major congenital heart diseases are present in up to 50% of patients with this rare vascular ring. We present a case of this rare disease in an asymptomatic 3-year-old girl, without any associated congenital heart disease and the findings in the echocardiography and tomography that made the non-invasive diagnosis possible.
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PMID:[Asymptomatic pulmonary artery sling: Noninvasive diagnosis]. 2011 64

Carcinoid heart disease is a rare disease, and its prevalence is uncertain. The aim of the present prospective study was to assess the prevalence of carcinoid heart disease using annual echocardiographic follow-up. We studied 80 consecutive patients presenting with histologically proven digestive endocrine tumor and carcinoid syndrome. All patients underwent annual conventional transthoracic echocardiographic studies and measurement of biologic carcinoid markers. Right- and left-sided carcinoid heart disease and the score of the severity of carcinoid heart disease were systematically assessed. At baseline, the prevalence of right- and left-sided carcinoid heart disease was 33% and 8%, respectively. At the end of follow-up, the corresponding prevalence was 53% and 21%. The correlations were strong between urinary 5-hydroxyindoleacetic acid (5-HIAA) and the right-sided carcinoid heart disease score (r = 0.75, p <0.0001), between urinary 5-HIAA and the left-sided carcinoid heart disease score (r = 0.83, p = 0.001), and between urinary 5-HIAA and the overall carcinoid heart disease score (r = 0.84, p <0.0001). All patients with > or =3 years of carcinoid syndrome and increased level of urinary 5-HIAA presented with echocardiographic evidence of valve disease on routine monitoring. In conclusion, the prevalence of carcinoid heart disease remained high and increased during follow-up. Carcinoid heart disease progresses over time, highlighting the need for echocardiographic follow-up once carcinoid syndrome has been diagnosed.
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PMID:Echocardiographic follow-up of treated patients with carcinoid syndrome. 2049 67

Plastic bronchitis (PB) is a rare disease that often occurs in patients with congenital heart disease (CHD) who have undergone staged single-ventricle palliation. It is characterized by the formation of rubbery "casts" in the airways. PB treatment frequently includes inhaled tissue plasminogen activator (tPA). However, the efficacy of tPA to reduce cast burden is unknown. This is further complicated by our lack of knowledge of cast composition. We obtained spontaneously expectorated PB casts from children (n = 4) with CHD and one adult patient with idiopathic PB. Pathological assessment was made from paraffin-preserved samples. Casts were treated with phosphate-buffered saline (PBS) or tPA. Cast response to tPA was assessed by changes in cast weight and the production of fibrin D-dimer. Independent of dose, tPA reduced cast weight compared with PBS-treatment (P = 0.001) and increased D-dimer levels. Histological staining showed that PB casts from all patients were composed of fibrin and contained notable numbers of lymphocytes. Cast composition did not change over time. Collectively, these data support that in our PB patients, casts are composed of fibrin and are responsive to tPA treatment. This makes inhaled tPA a potentially viable option for symptomatic relief of PB while we work to unravel the complexity of PB pathogenesis.
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PMID:Prospective, longitudinal study of plastic bronchitis cast pathology and responsiveness to tissue plasminogen activator. 2178 71

Isolated non-compaction cardiomyopathy is a rare disease that is likely to develop in the embryonic period. It is caused by the intrauterine arrest of the myocardial compaction process in the beginning of the fetal development. It is characterized by prominent myocardial trabeculations and deep intertrabecular recesses, as well as the thickening of the myocardium into two distinct layers (compacted and not compacted). Even though this disease is said to be prevalent in the pediatric population or together with congenital heart disease, one can understand that this disease occurs in isolation, because the diagnosis is becoming more common in adult patients that have no other heart disease. The clinical manifestations vary greatly, because they range from absence of symptoms to congestive heart failure, arrhythmias and systemic thromboembolism. Echocardiography is the most widely used diagnostic procedure, but the little knowledge about this disease, its similarity to other myocardial diseases and the limitation of the echocardiographic technique used delay the diagnosis. The purpose of this review is to show that that other imaging techniques, such as MRI, CT and left ventriculography have emerged as diagnostic alternatives.
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PMID:Noncompaction cardiomyopathy: a current view. 2285 55

Pulmonary arterial hypertension is a rare disease, which requires a high index of suspicion to diagnose when patients initially present. Initial symptoms can be nonspecific and include complaints such as fatigue and mild dyspnea. Once the disease is suspected, echocardiography is used to estimate the pulmonary arterial (PA) pressure and to exclude secondary causes of elevated PA pressures such as left heart disease. Right heart catheterization with vasodilator challenge is critical to the proper assessment of pulmonary hemodynamics and to determine whether patients are likely to benefit from vasodilator therapy. Pathologically, the disease is characterized by deleterious remodeling of the distal pulmonary arterial and arteriolar circulation, which results in increased pulmonary vascular resistance. In the last fifteen years, medications from three different classes have been approved for the treatment of pulmonary arterial hypertension. These include the prostanoids, endothelin receptor antagonists, and phosphodiesterase-5 inhibitors.
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PMID:Diagnosis and management of pulmonary arterial hypertension. 2194 50


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