Aaron M. Stern

Skeletal manifestations of the Holt-Oram syndrome.

The Holt-Oram syndrome is an autosomal dominant trait consisting of characteristic upper-limb abnormalities and congenital heart disease. Shoulder abnormalities are typical. Carpal abnormalities are distinctive and may be present even when the digits are normal. The most striking carpal abnormality is the presence of extra carpal bones. Carpal anomalies appear to be more specific for Holt-Oram syndrome than thumb changes. Prominent laterally and posteriorly protuberant medial epicondyles of the humeri are seen in many patients. The lower extremities are normal.

The hand-foot-uterus syndrome: A new hereditary disorder characterized by hand and foot dysplasia, dermatoglyphic abnormalities, and partial duplication of the female genital tract**

A new hereditary syndrome is described in 13 living members of 4 generations in a single kindred. The syndrome is characterized by malformations and hypoplasia of the hands and feet, and by varying degrees of duplication of the female genital tract. Radiographic findings in the hands and feet, and associated dermatoglyphic patterns, are characteristic of the syndrome. It is transmitted as an autosomal dominant with full penetrance and variable expression.

Ventricular septal defect: Results after repair in infancy

During the 19 years from 1957 through 1975, there have been 106 patients under age 2 years who have undergone surgery for repair of a large ventricular septal defect at the University of Michigan Medical Center. The majority of the patients had either severe pulmonary hypertension or intractable congestive heart failure. Eighty-three infants survived operation; there has been one late death. The greatest mortality occurred in patients under age 6 months and in those with severe pulmonary hypertension. Surviving infants showed marked symptomatic improvement and change in growth patterns. Complications included the development of complete right bundle branch blodk or left anterior hemiblock in approximately 50 percent of patients and, in one instance, complete atrioventricular block. Forty-five patients have undergone cardiac catheterization 1 to 8 years postoperatively. Although 17 were found to have residual septal defects only 3 of these had a pulmonary to systemic flow ratio of 1.5:1 or more, and reoperation was accomplished without incident in these 3 patients and in 3 others with smaller shunts. With one exception, postoperative pulmonary arterial pressures and pulmonary to systemic vascular resistance ratios were normal or near normal, thus representing a significant contrast with findings in patients operated on after age 2 years. Whereas the complications of surgery appear no greater in the infant than in the older patient, many of the benefits can be realized only with operation at the earlier age.

Radiographic findings in the hand-foot-uterus syndrome (HFUS).

The hand-foot-uterus syndrome is a hereditary disorder with abnormalities involving the hands and feet. Females with the disorder have duplications of the genital tract. Radiologically, the metacarpals and metatarsals are shortened and unusual carpal and tarsal fusions are present. Clinodactyly of the fifth fingers and short, pointed distal phalanges of the thumb and great toe are apparent.

Ventricular Pacing in Children

Ventricular pacing in children. Ventricular pacing was performed in forty‐one children ranging from one day to twenty years of age (median age = 10). Weight of the recipient at implant ranged from 2 kg. to 86 kg. Indications included presyncope, syncope, dyspnea on exertion, congestive heart failure, postoperative infra‐Hisian heart block, and inadequate cardiac rate during pharmacotherapy. Four patients died during follow‐up, but no deaths were attributable to pacemaker management. In contrast, 66% of the patients required more than one pacemaker related‐operative procedure, and 43% of leads implanted failed by 48 hours. Indications for permanent cardiac pacing in this population at this time are symptomatic congenital AV block, symptomatic sinus node disease, and AV block in the postoperative period. Technological developments which might reduce complications seen in this population and electrophysiologic techniques which may better define indications for pacing in children are also reviewed.

Stethoscope Acoustics II. Transmission and Filtration Patterns

This paper describes a fully calibrated and standardized acoustical test method for evaluating the transmission patterns and the filtration patterns of intact stethoscopes. An essential component of the test system is the artificial ear which duplicates the acoustical contribution of the average human ear to the stethoscopes acoustics. The transmission patterns of bell-type stethoscopes fall into four distinct groups which correspond to their basic design features. Shallow bells and single tubing design both result in attenuation at higher frequencies. A deep, trumpet-shaped bell with double tubing design may provide amplification at higher frequencies. Diaphragms attenuate the transmission acoustics of stethoscopes. When the low frequencies are selectively attenuated, high frequencies are heard more distinctly. Some diaphragms were found to attenuate at all frequencies.The acoustical performance of any stethoscope is critical. Any attenuation of clinically significant sounds of low intensity may render them totally inaudible. The majority of stethoscopes tested (bell and diaphragm chestpieces) attenuate high frequency sounds. The adoption of stethoscopic performance criteria is urged. Few modern stethoscopes show any significant acoustical improvement since the time of Laennec.

The Surgical Therapy for Pulmonary Artery—Right Ventricular Discontinuity

Abstract The results of operations performed at the University of Michigan for conditions characterized by pulmonary artery-right ventricular discontinuity are reviewed. In 5 infants with increased pulmonary blood flow, pulmonary artery banding was performed with unsatisfactory results. Two survived operation but later died of complications related to the bands. Fourteen children received shunts for conditions involving reduced pulmonary blood flow; 13 survived and have either undergone subsequent total repair or are doing well and are awaiting total repair when possible. Twelve patients have undergone total repair; valveless cloth tube conduits were utilized in 4, and 2 remain well 11 years later. More recently, fresh, antibiotic-preserved aortic allografts have been utilized for the conduit. Six of 8 patients survived the operation, and there was 1 late death. The aortic wall of one graft became calcified after 4 years and had to be replaced, although the valve leaflets remained functional. Immediate success of the totally corrective operation depends on the pulmonary vascular resistance being less than 60% of the systemic. Long-term success depends on the fate of the conduit. From previous experience we think fresh allografts should be more durable than the sterilized allografts used by most other groups; however, we have found that even fresh allografts can calcify.

Estimation of pulmonary/systemic resistance ratios from echocardiographic systolic time intervals in young patients with congenital or acquired heart disease

Previous work has shown the positive correlation of echocardiographic right ventricular preejection period/right ventricular ejection time ratio (RPEP/RVET) with pulmonary vascular resistance and pulmonary arterial diastolic pressure obtained at cardiac catheterization. However, the correlation was insufficient to predict pulmonary arterial diastolic pressure or vascular resistance from a given RPEP/RVET ratio. In this study the RPEP/RVET ratio was compared with left ventricular preejection period/ejection time ratio (LVEP/LVET) in 25 patients undergoing cardiac catheterization, and a strong correlation was found between the ratio (RPEP/RVET)/(LPEP/LVET) = R/L and the ratio of pulmonary arteriolar resistance/systemic arteriolar resistance (PAR/RS), especially when R/L was correlated with log10 PAR/RS (r = 0.902). A very high correlation (r = 0.960) was found between R/L and log10 PAR/RS when the group was restricted to patients with a ventricular septal defect or a complete endocardial cushion defect. Regression equations for prediction of PAR/RS have been derived for the various groups.

Tricuspid atresia and the Wolff-Parkinson-White syndrome: evaluation methodology and successful surgical treatment of the combined disorders.

to its abolition during intravenous tocainide administration. It seems likely that acceleration of VT rate was induced by tocainide, since in both of our patients their episodic VT had been at constant frequency during observation for 1 month. Although both of these patients had severe underlying heart disease with chronic potentially life-threatening recurrent VT, VF occurred only once in each individual and in each instance in close proximity to initiation of tocainide therapy. Furthermore, VF has not reoccurred since tocainide was discontinued. There were no apparent metabolic or electrolyte abnormalities which might have explained their worsening of ventricular tachyarrhythmias during tocainide. Other antiarrhythmic drugs had been discontinued sufficiently prior to VF to make such change in therapy an important factor. Serum digoxin concentrations were at levels unlikely to be associated with toxic arrhythmias. While a potential interaction between tocainide and digoxin might have resulted in VF, such an event has not been observed with lidocaine, a drug with similar structure and electrophysiologic effects as tocainide. While it ;S not possible to exclude the causal relation of their severe underlying cardiac disease processes or disturbed pharmacokinetics due to related organ system dysfunction, it is not unreasonable to suspect that tocainide was responsible for initiation of VF in these two patients. Unfortunately, tocainide blood levels were not available in both patients. Tocainide is principally removed (45%) by excretion in the urine in unchanged form and 23% is metabolized by carboxylation in the liver. Since our first patient had severe congestive heart failure, impaired excretion might have resulted in toxic blood levels. However, our second patient had normal renal and hepatic function. Based on previous experience with the pharmacokinetics of this highly bioavailable oral drug,‘, 6 it is quite unlikely that our second patient had toxic serum levels. Furthermore, signs and symptoms of CNS or gastrointestinal toxicity were absent in both patients, and these side effects usually occur with high tocainide blood levels.‘,6 Based on these two untoward experiences, we now believe that it is prudent to initiate tocainide therapy in a monitored hospital setting. The drug has proved useful in patients with refractory ventricular tachyarrhythmias and we continue to find tocainide salutary in such patients.

Open Heart Surgery: Results in 600 Cases

The use of extracorporeal circulation during the surgical correction of heart lesions has become generally accepted. Comprehensive discussions of the problems of open heart surgery have been published (Clowes, 1960; Harley, 1960; Allen, 1958). A variety of methods and techniques have been developed for operating on the heart under direct vision, and those that are now in wide use achieve excellent results (DeWall and Lillehei, 1962; Drew, 1961; Gerbode, Osborn, and Johnston, 1960; Molloy, 1961). By the end of 1961 open heart operations for acquired and congenital cardiac lesions had been performed on 600 patients at the University of Michigan Medical Center. A safe, easily controlled procedure for maintaining extracorporeal circulation has been developed which is based on a rotating disc oxygenator and a means for inducing moderate systemic hypothermia. The programme of open heart surgery began in 1957 (Sloan, Morris, vander Woude, Hewitt, and Long, 1959), and the methods now in use represent development throughout the past four years. The risk in open heart surgery to-day is related almost entirely to the severity of the cardiac lesion rather than to the use of extracorporeal circulation. The mortality rate for correction of uncomplicated cardiac defects is less than 1 % in our hands.