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[Extracardiac malformations in infants with congenital heart diseases: clinical research and statistics covering period 1969-79 (author's transl)].

The authors have examined the statistics of extracardiac malformations in infants with congenital heart disease, aged between birth and 12 months. Cases have been registered and studied within a period ranging from 1969 to 1979 at A. Meyer Hospital of Florence (Pediatric Institute of the University, Divisions of Medical Pediatrics and of Pediatric Surgery). Extracardiac abnormalities occur in 23,05% of infants seen during the first year of life for significant cardiac disease. Sometimes the extracardiac malformations are multiple and 66,3% of the affected infants have some established syndrome, especially chromosomal. The most frequent associated cardiac malformations are: ventricular septal defect (29,3%), complex heart disease (18,5%), non cyanotic heart disease with increased pulmonary blood flow (16,3%) and endocardial cushion defect (10,8%).

Congenital Abnormalities↗
PubMed1981

Case histories of neonates with congenital heart disease.

The rate of extracardiac malformation (ECM) associated with congenital heart disease (CHD) is high in neonates. 108 cases of 212 neonates with CHD had ECM (50.9%). Main ECMs were digestive system anomalies (36.1%), chromosomal aberrations (26.8%), respiratory system anomalies (21.3%), CNS anomalies (13.0%), and other (2.7%). Single lesion of left to right shunt accounted for 77.2% (61/79) of CHD with ECM from other than chromosomal aberrations. The prognosis of neonates with CHD without ECM was also studied. Total anomalous pulmonary venous connection, pure pulmonary atresia (PPA), pulmonary stenosis (PS), hypoplastic left heart syndrome are not generally associated with ECM, but the prognosis is poor. Coarctation complex which is sometimes associated with ECM has a poor prognosis in neonates. There is an increase of the survival rate in the patients with hypoxemia, such as PPA or severe PS, extreme tetralogy of Fallot, and tricuspid atresia, which can be managed with prostaglandin E1. PDA associated with respiratory distress syndrome is ideally treated with indomethacin. In recent years, mortality from PDA has decreased in neonates. The mortality rate during the neonatal period was 46.8% (51/109): 37.5% (30/80) died before surgical interventions and 72.4% (21/29) died during or after surgery. Half of neonatal deaths from CHD occurred within 3 days of admission. Thus, early detection, early diagnosis, and early treatment of neonates with CHD is most important.

Abnormalities, Multiple↗
PubMed1994

CO2 control of breathing: parameter estimation and stability evaluation.

A method is developed to evaluate system stability for the CO2 control of breathing in individuals by using data from the dynamics of CO2 rebreathing and elimination. The theoretical basis of the method is a physiological model of the CO2 respiratory control system and an explicit stability index (SI). The SI is algebraically related to the model parameters: system volume (Vs), cardiac output (Q), circulatory transit time (ts), and controller gain (G). A sequential optimization scheme is shown to yield estimates of the model parameters by comparing the alveolar ventilation and PCO2 of the model output with corresponding experimental data. Model simulation of CO2 rebreathing and elimination with different parameter values demonstrate that all parameters except ts have significant effect on the outputs. Least-squares estimation of the parameters using model-generated data with added noise showed good precision for all parameters (except ts). This analysis is performed with parameter values chosen to produce overdamped and underdamped responses that would occur in normal and abnormal respiratory control systems, respectively. It is anticipated that SI values of the (overdamped) normal and (underdamped) abnormal systems differ by much more than the variation produced by imprecision of the parameter estimates. For this circumstance, the method is expected to be sensitive enough to distinguish normal from abnormal CO2 respiratory control of individual subjects.

Carbon Dioxide↗
PubMed1999

The impact of cachexia on cardiorespiratory reflex control in chronic heart failure.

BACKGROUND: The mechanism of persistent neurohormonal and cardiorespiratory reflex abnormalities in chronic heart failure remain unclear. Also, why chronic heart failure patients who develop cachexia demonstrate a particularly abnormal neurohormonal profile and have a high risk of death is not known. Impaired reflex control within the cardiac and respiratory systems, and abnormal heart rate variability have both been linked to a poor outcome. Muscle reflexes may contribute to persistent neurohormonal overactivity in wasted patients. Thus, we hypothesized that patients with cardiac cachexia might exhibit particularly profound abnormalities in cardiorespiratory reflexes and heart ratevariability. METHODS AND RESULTS: We investigated 39 chronic heart failure patients: 13 with cardiac cachexia (non-intentional, non-oedematous, documented weight loss of >7.5% of previous normal weight over more than 6 months), and 26 non-cachectic chronic heart failure patients matched according to the severity of chronic heart failure (all men, mean age: 59 vs 60 years, NYHA functional class: 2.6 vs 2.5, peak O(2)consumption: 16.2 vs 16.8 ml. kg(-1). min(-1), left ventricular ejection fraction: 23 vs 24%, all P>0.2 for cachectic vs non-cachectic). In the assessment of the cardiorespiratory reflex control we investigated: cardiac sympathovagal balance (using spectral analysis of heart rate variability to derive low (LF, 0. 04-0.15Hz) and high frequency (HF, 0.15-0.4Hz) components), baroreflex sensitivity (using the phenylephrine method), and peripheral chemosensitivity (using the transient hypoxic method). There was a severely abnormal pattern of cardiorespiratory reflex control in patients with cachexia compared with non-cachectic patients. The former group exhibited severely impaired autonomic reflex control, characterized by an abnormal profile of heart rate variability (reduced LF component), and depressed baroreflex sensitivity (P=0.0001 and P=0.02, respectively, vs non-cachectics). Patients with cachexia also demonstrated an increased peripheral chemosensitivity (0.91 vs0.46 l. min(-1). %SaO(2)(-1), P<0.001, cachectic vs non-cachectic, respectively). In the correlation analyses the degree of impairment in the reflex control was more closely related to wasting, and to the level of neurohormonal activation (as measured by the levels of epinephrine and norepinephrine) than to conventional markers of the severity of heart failure. CONCLUSIONS: Chronic heart failure patients who developed cardiac cachexia demonstrate an abnormal reflex control within the cardiovascular and respiratory systems. The nature of the link between this phenomenon and hormonal changes and the poor prognosis of cachectic chronic heart failure patients warrants further investigation.

Cachexia↗