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Neonatal lupus is categorized by typical clinical features and the presence of maternal auto-antibodies. Mothers are uncommonly affected with clinical disease. The major clinical manifestations in neonates are cardiac, dermatological and hepatic, with rare instances of haemolytic anaemia and thrombocytopenia. The major morbidity and mortality result from complete congenital heart block. Dermatological manifestations occur mainly over the face and present with plaques of erythema with central atrophy, a mid-facial erythema, atrophy around the eyes and a telangiectatic variety. The long term outcome is usually excellent.

As we learn more about the human genome and develop more sophisticated ways of studying diseases, disorders, and disturbed development, the borders between these abnormalities become harder to define. For example, as we learn more about the underlying biochemical defects in dwarfing syndromes such as thanatophoric dysplasia, this “malformation” becomes more like an inborn error of metabolism—a genetic defect or alteration with a specifically altered or absent product, leading to a predictable set of consequences depending on the role of that product. Considering this concept, it is perhaps somewhat artificial to discuss developmental/morphologic/structural anomalies separate from the sorts of diseases and disorders reviewed in Chapter 6. However, we are still a long way from defining the underlying molecular mechanisms in most structural variations from “normal,” so there is probably more we can learn from reviewing them in a broader context. Careful analysis of patterns of malformations and associated epidemiologic characteristics may help define where the basic defect could be looked for, and examinations of malformations in twins may provide particularly useful data.

The familial nature of cardiac arrhythmias and conduction disturbances has been frequently noted. In the past, cardiologists have primarily utilized surface electrocardiographic (ECG) abnormalities for diagnosis and classification of arrhythmias or conduction disturbances. However, an ECG abnormality is often one manifestation of a disease process which may not be confined to the heart, e.g., first degree heart block may be an early manifestation of myotonic dystrophy. [1]

Disturbance in the immunologic tolerance of self is considered autoimmunity. A large variety of clinical disorders (Table 146–1) have been associated with autoimmunity and are therefore frequently referred to as autoimmune diseases. Antibodies against self, so-called autoantibodies, can, however, also occur in totally normal subjects. Furthermore, it is known that these autoantibodies increase with advancing age. It therefore has been suggested that the aging process may at least in part represent a deterioration of the tolerance process to self. Autoantibodies are also usually found after tissue damage. This observation also suggests that the presence of autoimmunity does not necessarily indicate a disease state.

Non-invasive detection of the His-Purkinje (HP) activity could be useful in clinical practice, e.g. in determining the actual site of atrio-ventricular (A-V) block or in evaluating the effect of anti-arrhythmic drug therapy on heart conduction system. The HP activity from body surface was first measured electrically by Berbari et al. (1978). First magnetic study of the HP conduction system was reported by Farrell et al. (1980). The HP activity was described as a ramp like structure in the P-Q interval. Fenici et al. (1985) reported magnetic His-Purkinje studies with invasive ECG reference. In normal subjects the overlapping atrial activity causes serious interference with the HP-signal. To avoid this overlapping, Makijarvi et al. (1985) investigated patients with total A-V block. However, in these studies the accurate timing was difficult because intracardial reference ECG was not available.

Familiarity with the anatomic and physiological changes in the urinary system of normal gravidas is important in the detection and management of renal problems during pregnancy. These alterations have already been discussed in this section (Chapter 120), and it is against this background that pregnancy in women with various renal problems is discussed. (See also Chapter 99, Urinary Tract Infections in Pregnancy.