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Open heart interventions in premature low- and very-low-birth-weight neonates: risk profile and ethical considerations.

In premature, very-low-birth-weight (VLBW) neonates, complex cardiac malformations can be successfully repaired under conditions of cardiopulmonary bypass. However, due to the immaturity of organ systems, these patients are exposed to a specific risk resulting from noxious effects of extracorporeal circulation, especially on the central nervous system. Two premature neonates with low and very low birth weight of 1160 g and 1650 g, were operated on using cardiopulmonary bypass for severe pulmonary artery stenosis and truncus arteriosus communis type II, respectively. The neonate with pulmonary valve stenosis survived, but at 2-year-follow-up examination motoricity retardation as a result of cerebral immaturity-related changes was evident. The other neonate died suddenly on the fifth postoperative day of a massive intracranial haemorrhage. Due to the fact that the natural history of VLBW children is a priori characterized by a high incidence of major neurological handicaps, open heart surgery may by improving survival chances contribute to an increased incidence of mentally handicapped children.

Brain Diseases↗

Clinical experience with Sorin Bicarbon valve in patients with tight mitral valve stenosis and elevated pulmonary hypertension (early and mid-term results).

BACKGROUND: The results of mitral valve replacement (MVR) with Sorin mechanical valves in patients who had tight mitral stenosis with high pulmonary artery pressure were reviewed. METHODS: During a period of two years, from August 1998 to May 2000, a mitral valve replacement with a Sorin Bicarbon mechanical valve was performed in 51 patients with a diagnosis of tight mitral stenosis associated with severe pulmonary hypertension (preoperative mean systolic pulmonary artery pressure was 72+/-12 mmHg, range from 60 to 105 mmHg). There were 37 women and 14 men; mean age was 47.2+/-12 years. Forty-eight patients (94.12%) were in NYHA functional class III or IV. All the patients discharged from the hospital were submitted to a clinical follow-up program. A 100% follow-up was obtained with a mean of 12.6+/-6.4 months (range 2 to25 months). RESULTS: Operative mortality was 3.9%, 2 patients who had concomitant CABG died due to low cardiac output. Twelve patients (23.5%) needed an inotropic pharmacological support during the postoperative time. In one patient a re-exploration for bleeding was necessary, and in another one a cerebrovascular accident occurred 3 days after the operation. After 6 months, one patient was reoperated on because of mechanical valve dysfunction due to pannus formation. All survivors underwent a postoperative echocardiographic assessment. The systolic PAP decreased from a mean preoperative value of 72+/-12 mmHg to 39.9+/-12 mmHg. NYHA functional status significantly improved and 86% of the patients were in NYHA functional class I or II. CONCLUSIONS: The mitral valve replacement with Bicarbon mechanical valve prosthesis shows excellent results in patients with mitral valve stenosis associated with a severe pulmonary hypertension.

Female↗

Exclusion of candidate genes in a family with arterial tortuosity syndrome.

Arterial tortuosity syndrome (ATS) is a rare hereditary disorder with variable clinical presentation including tortuosity and elongation of the major arteries, often associated with pulmonary artery stenosis, pulmonary hypertension, and skin and joint laxity, suggestive of a connective tissue disorder. ATS is transmitted in an autosomal recessive mode, but the causal gene is unknown. We report an Italian pedigree with three inbred families in which five patients show signs of ATS. In particular, four adult patients present arterial tortuosity and elongation of the main arteries. Two of these patients, with the most severe degree of arterial tortuosity, also show severe peripheral stenosis of the main pulmonary artery. The fifth young patient shows a severe pulmonary valve stenosis in the absence of arterial tortuosity. All patients show signs of Ehlers-Danlos syndrome (EDS): soft skin with abundant subcutaneous tissue and joint laxity, hernias, and disorganization of the extracellular matrix (ECM) of fibronectin (FN) and of actin microfilaments in cultured skin fibroblasts. Linkage analysis of the genes involved in EDS and other connective tissue disorders, excluded COL1A1, COL1A2, COL2A1, COL3A1, COL5A1, COL5A2, COL5A3, COL6A1, COL6A2, ADAMTS2, ELN, FN1, TNXA, and TNXB as candidate genes in the family under study, thus indicating that ATS is a distinct clinical and molecular entity.

Abnormalities, Multiple↗