Per Zetterqvist

Multiple Occurrence of Atrial Septal Defect in a Family

Reports of familial incidence of congenital heart diseaseidentical or notare relatively rare, and include for the most part not more than 2 members of the same family, as a rule siblings or a child and a near relative of one of the parents. Atrial septal defect (ASD), however, has been diagnosed at times in 3 or 4 members of the same family, and several times it has been found in parent-child constellations. For these reasons, the possibility of a real inheritance factor has been brought up. The family which will be presented here gives further support to this theory and has so many cases of certain or probable atrial septal defect that it can in addition serve to illustrate the natural history of the disease as well as some aspects of its symptomatology and diagnosis.

Dominant mode of inheritance in atrial septal defect.

Two kindreds showing an accumulation of secundum‐type atrial septal defects have been traced back to common ancestors in the 18th century. The distribution of affected individuals in the combined pedigree satisfies the criteria of a dominant mode of inheritance. The diagnosis is considered certain in 16 cases (verified at operation in nine, at autopsy in one, and by heart catheterization in two) and more or less strongly suggested in four. Evidence from this and some additional reports gives support to the hypothesis that in exceptional cases atrial septal defect may be inherited as an autosomal dominant character showing high or even complete penetrance and little variation in expressivity. This does not contradict the generally accepted view that, in most cases, atrial septal defect as well as other cardiovascular malformations must be due to multifactorial mechanisms.

Chronic Supraventricular Tachycardia of Continuous or Repetitive Type in Children A Note on Circulatory Function and Long‐Term Prognosis

Chronic supraventricular tachycardia is an unusual disturbance which may occur also in children. I n such cases, signs of gross congenital malformation or acquired disease of the heart are usually absent, and the condition may be so stable over a period of many years that a local malformation of the impulse-forming atrial or nodal system has been suggested as its cause (Parkinson & Papp (7)) . The tachycardia may be either of a “continuous” and “constant” type or of a “repetitive” and “paroxysmal” type, and i t is clearly distinguished from the classical paroxysmal atrial tachycardia. The circulatory functional effect of the supraventricular tachycardia appears to depend partly on the degree of atrioventricular (AV) conduction block, i.e. on the resulting ventricular rate, and partly on the effectiveness of ventricular contraction at these high rates. In the majority of pediatric cases, no serious incapacitation is produced or there may even be no subjective symptoms a t all. The long-term prognosis is judged to be good, at least in children, in whom spontaneous remission often occurs in adolescence (see Parkinson

Atypical Coarctation of the Aorta with Bilateral Vertebral-Subclavian Pathway: A Report of the First Known Case of Preligamental Aortic Arch Interruption and its Surgical Correction

A case is reported of aortic arch interruption due to bilateral regression of the fourth branchial artery. The ductus arteriosus was closed and the ventricular septum was intact. Bilateral persistence of the dorsal aortic root had lead to anomalous origin of both sub-clavian arteries and made possible bilateral vertebral-subclavian pathways. As the right common carotid artery was lacking, the left common carotid artery represented the only continuation of the ascending aorta. The patient, a normally developed boy with highly abnormal systolic blood pressure conditions, was successfully treated by operation at the age of eight years.Complete interruption of the aortic arch in its classical form is associated with a wide patent ductus arteriosus. Accordingly, the descending aorta receives blood from the right ventricle even after birth. The invariably wide ventricular septal defect permits a left-to right shunt with its magnitude determined mainly by the pulmonary vascular resistance. Additional malformatio...

17. Physical Malformation and Mental Retardation in Association with Structural Autosomal Aberrations

mosomal aberrations be demonstrated. The DNA-content of the sex chromatine was histophotometrically measured in case 2 and 3. No difference from the result found in normal women was demonstrated. Judging from autoradiographic investigations case 2 and 3 had an X-chromosome of normal size. A few cases of the same type have previously been described in the literature. I t seems most likely that in these patients a mosaicism is present where it has not been possible to demonstrate cells with an Y-chromosome, or that during the development of the individual the Y-chromosome has been eliminated. At present a more complicated mechanism for the sexual differentiation can not on the other hand be excluded.

Aortic Origin of the Right Pulmonary Artery and Wide Patent Ductus Arteriosus

An account is given of the diagnostic and surgical aspects of a case of aortic origin of the right pulmonary artery and wide patent ductus arteriosus. Special emphasis is placed on the preoperative assessment of the pulmonary vascular resistance. At the successful surgical intervention normal anatomic changes were created.

Late Results After Surgical Closure of Ventricular Septal Defect in Children

Twenty-two children, who were operated on for ventricular septal defects (VSD) at 3-11 years of age, were studied 2-11 years postoperatively with respect to signs of residual shunt, cardiomegaly, physical capacity and pulmonary resistance at various rates of perfusion. There was evidence of residual shunt in one of the patients at follow-up. This was also the only patient who had persisting cardiomegaly in the group. Exercise tests were as a rule within normal limits. Total pulmonary resistance (TPR) decreased in all instances and was abnormally elevated in 6 patients at the follow-up. as compared to 12 at the pre-operative study. Total pulmonary resistance index (TRP1) was abnormally elevated in 8 patients, as compared to 10 at the pre-operative study. Whereas TPR decreased from an average pre-operative level of 7.9 to 4.2, TPR1 average remained virtually unchanged. The two most hyper-resistive patients were found to have identically high resistance indices at the follow-up investigation, indicating litt...

MALIGNANT PHEOCHROMOCYTOMA IN A CHILD: TREATMENT WITH A COMBINATION OF ALPHA- AND BETA-ADRENERGIC BLOCKADE

A case of inoperable malignant pheochromocytoma in a 9‐year‐old girl is described. On admission to the hospital, the patient was in poor general condition with weight loss, hypertension, a considerable left heart hypertrophy and extremely high concentrations of noradrenaline in central venous blood and urine. Alpha‐adrenergic blockade with phentolamine was insufficient to improve her condition. When the beta‐adrenergic drug, propranolol, was added, a rapid reduction of blood pressure and heart size to normal values occurred with dramatic improvement of the general condition in spite of continued high urinary output of noradrenaline. It is concluded that the symptomatic treatment of pheochromocytoma may require both alpha‐ and beta‐adrenergic blocking drugs for adequate control of the clinical symptoms in this disease.

Fibroma in the Interventricular Septum of the Heart: Successful Removal in a 13-month-old Infant

An account is given of the discovery of an intraseptal fibroma of the heart in a 13-month-old infant and the successful removal of the tumour.

Ventricular Dynamics After Surgical Closure of VSD

Twenty patients varying in age between 5 and 20 years at the time of surgical closure of VSD were studied 2 to 9 years postoperatively. Ventricular function was studied by echocardiography and measurement of systolic time intervals for the left and right ventricles and the findings were related to clinical and haemodynamic results of operation. The VSD was closed in all instances and the haemodynamic situation was normalized in all but 2 patients who had persisting pulmonary vascular disease. Right bundle branch block (RBBB) was recorded in 11 instances and in 5 there was an associated left axis deviation (LAD), suggesting left anterior hemiblock. LAD occurred as an isolated anomaly in another 2 patients. The heart size was within normal limits in all the patients. Abnormal septal motion (ASM) was recorded in 13 of the 20 patients, but other echocardiographic analyses, such as LV end-diastolic dimension, left atrial/aortic root ratio, posterior wall velocity index and maximal endocardial velocity, were all within predicted normal limits. There was an almost uniform prolongation of both left and right pre-ejection periods. left and right ejection period as a rule remained normal and gave an increased PEP/ET ratio, indicating the presence of postoperative ventricular dysfunction also in instances with complete normalization of the haemodynamic situation. Suggested background mechanisms for these findings are the frequent occurrence of conduction defects postoperatively, the likelihood of altered ventricular compliance and possibly also as a cause of ASM postoperative presence of an opened pericardial sac.