Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0151744 (myocardial ischemia)
 31,282 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

IIAC is a rare cardiovascular disease characterized by calcification of the membrana elastica interna and intimal proliferation in smaller and bigger arteries. This report describes a premature infant of 36 week gestational age with IIAC, which developed a hypertrophic-obstructive cardiomyopathia, acute renal failure and renovascular hypertension due to complete occlusion of both renal arteries, and eventually died at an age of 85 days. To date 86 cases of IIAC have been published. In 42 patients whose case records have been reported since 1960, cardiac failure and myocardial ischemia or infarction were the most commun clinical signs. In 54% of cases the electrocardiogramm showed myocardial ischemia. Characteristically neonates or young infants were affected by this disease, the mean onset of symptoms was 2 months, the mean time of survival was 4.2 month of age. Coronary arteries were calcified in 85% of cases; in addition, typical morphological changes were found in the arteries of lung, kidney, extremities, mesenterium, spleen, brain and the aorta. Extravascular calcification (kidney, soft tissue) could be demonstrated in 37% of the patients. The etiology of this rare disease is unknown.
 ...
PMID:[Idiopathic infantile arterial calcinosis. A rare cardiovascular disease of uncertain etiology--case report and review of the literature]. 156 5

Generalized arterial calcification of infancy (GACI) is a rare genetic disorder consisting of diffuse arterial calcification and intimal proliferation. The disease typically results in progressive arterial stenosis and frequently leads to death from myocardial ischemia by 6 months of life. Affected infants are usually diagnosed before birth or in the neonatal period with symptoms of congestive heart failure. Therapy with bisphosphonate has been used to treat the condition, but with inconsistent results. The disease is associated with mutations in ENPP1 in the majority of the cases. Here we report a unique case of GACI associated with in utero meconium peritonitis and without coding region mutations of the ENPP1 gene. GACI should be considered in the differential diagnosis in infants presenting with arterial calcifications and congenital anomalies of the gastrointestinal tract.
 ...
PMID:Generalized arterial calcification of infancy associated with meconium peritonitis: a case report and review of the literature. 1945 27

Pseudoxanthoma elasticum (PXE) is an autosomal recessive disease affecting tissues rich in elastic fibers such as the skin, retina, and cardiovascular system. Mutations in the ABCC6 gene are known to be causative in most patients. Generalized arterial calcification of infancy (GACI) is characterized by extensive hydroxyapatite deposits in the internal elastic laminae in large and medium-sized arteries, leading to arterial stenoses and early and severe myocardial ischemia. GACI has been found to be primarily caused by mutations in the ENPP1 gene. We report two brothers born to unrelated parents. The elder developed uncomplicated PXE in adolescence and harbored mutations in the ABCC6 gene. The younger child died of a condition strikingly reminiscent of GACI at 15 months of age. This case of GACI was independent of mutations in the ENPP1 gene but was probably related to ABCC6 mutations. We demonstrate that matrix Gla protein and fetuin-A, involved in PXE, are also expressed in this case of GACI. These proteins could act as local and systemic inhibitors to limit the extension of mineralization. This report emphasizes concurrently that ABCC6 may be a relevant candidate gene in some cases of GACI with no mutations in the ENPP1 gene, and that GACI may be an atypical and severe end of the vascular phenotype spectrum of PXE.
 ...
PMID:An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy. 2003 67