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)

Echocardiography has been used for cardiovascular evaluation of individuals and families with Ullrich-Noonan syndrome. Previously undiagnosed left ventricular disease has been found as a discrete lesion or in association with other cardiac abnormalities. This raises the estimated frequency of heart disease in the Ullrich-Noonan syndrome to about 50%. Since left ventricular disease in this syndrome may not be entirely typical of asymmetric septal hypertrophy, caution should be exercised in the echocardiographic diagnosis. To date, one notable difference between the echocardiograms in these patients and other patients with asymmetric septal hypertrophy is the absence of systolic anterior motion of the mitral valve. Since the most common cardiac lesion the the Ullrich-Noonan syndrome is pulmonary stenosis, the potential for septal thickening produced by severe pulmonary stenosis must also be taken into account.
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PMID:Echocardiographic studies of left ventricular disease in Ullrich-Noonan syndrome. 12 88

To investigate the relationship between congenital heart disease and jugular lymphatic obstruction as manifested in web neck anomaly, we used the Iowa Birth Defects Registry to determine the incidence of congenital heart defects (CHD) in infants with and without web neck. Sixty percent of infants with web neck had CHD, with a high incidence of flow-related defects such as hypoplastic left heart, coarctation, and secundum atrial septal defect. Sixty-eight percent of infants with web neck had a genetic syndrome (37% Down syndrome, 13% Ullrich-Turner syndrome, and 5% Noonan syndrome), and 24% had dysmorphic features consistent with lymphatic obstruction sequence. When infants with Down, Ullrich-Turner, and Noonan syndrome and web neck were compared to infants with the same syndrome but without web neck, those with web neck were significantly more likely to have flow-related heart defects. Infants with Ullrich-Turner syndrome and web neck had an 11-fold higher incidence of coarctation, compared to those with a normal neck. Our data suggests web neck is associated with both flow and nonflow-related heart defects. This association implies a pathogenetic relationship and appears to be independent of causal factors. The finding of web neck or nuchal cystic hygroma on a prenatal ultrasound or newborn examination should prompt a search for CHD.
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PMID:Web neck anomaly and its association with congenital heart disease. 887 Sep 31

Heart transplantation is the most effective therapy for children with end-stage heart disease; however, its use is limited by the number of donor organs available. This shortage may be further compounded by concerns about organ quality, leading to refusal of potential donor organ offers. We report on the successful transplantation and 5-year follow-up of a heart from a donor with Ullrich congenital muscular dystrophy (UCMD). The candidate was critically ill at the time of the transplant and the donor organ was declined repeatedly on the match run list due to concerns about organ quality, despite having normal cardiac function by echocardiography on minimal inotropic support. We believe the diagnosis of "muscular dystrophy" in the donor combined with a lack of understanding about the specifics of the diagnosis of UCMD enabled our candidate to receive a primary offer for this organ. We are unaware of any previous reports of the use of a heart from a donor with UCMD for orthotopic heart transplantation in adults or children.
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PMID:Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy. 2366 12