Callahan, John A.

BACKGROUND The carcinoid syndrome is a rare cause of acquired valvular heart disease. Although the typical echocardiographic features of carcinoid heart disease are well recognized, this large series provides new information about unusual manifestations of the disease as well as the role of Doppler echocardiography. METHODS AND RESULTS Between 1980 and 1989, 132 patients with carcinoid syndrome underwent echocardiographic study. The echocardiographic, Doppler, and clinical features of the 74 patients (56%) with echocardiographic evidence of carcinoid heart disease are described. Among these patients, 97% had shortened, thickened tricuspid leaflets. Tricuspid regurgitation was present in all 69 patients with carcinoid heart disease who underwent Doppler examination, and it was of moderate or severe degree in 62 patients (90%). Severe tricuspid regurgitation was characterized by a dagger-shaped Doppler spectral profile with an early peak pressure and rapid decline. The pressure half-time was prolonged (mean, 116 msec), which is consistent with associated tricuspid stenosis. The pulmonary valve appeared thickened, retracted, and immobile in 36 patients (49%) and was diminutive to the extent of not being visualized in an additional 29 patients (39%). Among the 47 patients who underwent Doppler evaluation of the pulmonary valve, regurgitation was present in 81%, and stenosis was present in 53%. Left-sided valvular involvement was present in five patients (7%), four of whom had patent foramen ovale or carcinoid tumor involving the lung. Previously undescribed myocardial metastases were present in three patients (4%) and were confirmed by biopsy in each case. Small pericardial effusions were present in 10 patients (14%). Patients with and without echocardiographic evidence of carcinoid heart disease did not differ with regard to sex, age, location of the primary tumor, duration of diagnosis, or duration of symptoms of carcinoid syndrome. However, the mean pretreatment level of urinary 5-hydroxyindoleacetic acid was higher in patients with carcinoid heart disease than in patients without carcinoid heart disease (270 versus 131 mg/24 hrs, p < 0.001). The symptom of dyspnea was more prevalent among patients with carcinoid heart disease than in patients without the disease (54% versus 27%, p = 0.003); as expected, heart murmurs were also noted more frequently in patients with disease (92% versus 43%, p < 0.0001). Treatment regimens and response to therapy were similar in the two groups. Survival of patients with echocardiographic evidence of carcinoid heart disease was reduced compared with those without cardiac involvement (p = 0.0003). ECG and chest roentgenographic findings in patients with carcinoid heart disease were nonspecific. CONCLUSIONS The broad spectrum of carcinoid heart disease is detailed in this large series. This includes not only right-sided valvular lesions but also left-sided involvement, pericardial effusion, and myocardial metastases.

The present study presents pertinent clinical and pathologic findings in 20 cases of ruptured mitral chordae tendineae encountered at the Mayo Clinic between 1934 and 1958 inclusive. Mitral insufficiency results from the rupture of chordae tendineae, the severity being related to the number of chordae ruptured. The resulting heart disease may be severe and may progress to cardiac decompensation and death. Bacterial endocarditis was the major etiologic factor in rupture of the chordae tendineae in this study.

Patients who have pulmonary stenosis and ventricular septal defect usually have a right-to-left intracardiac shunt. This paper presents hemodynamic and clinical data on 11 patients who have pulmonary stenosis, ventricular septal defect and left-to-right shunts. Four of these patients also have defects in the atrial septum, and three have demonstrable bidirectional shunts. The level and direction of shunts were determined by blood oxygen-saturation data and indicator-dilution studies. Choice of the form of treatment to be used in patients such as these should be based largely on hemodynamic considerations. Many resemble patients with tetralogy of Fallot who have had a successful pulmonary valvotomy.

Atrial septal defect (ASD) of the fossa ovalis type was found in 16 members of one family and confirmed in 15 members at autopsy or surgery or by cardiac catheterization. Sinus rhythm was present in 12 affected members, 11 of whom had electrocardiographic evidence of prolonged atrioventricular (A-V) conduction. Five other family members without ASD also had prolonged A-V conduction. The pedigree chart suggests that the syndrome ASD with prolonged A-V conduction is the manifestation of a single mutant autosomal gene with dominant effect, a high degree of penetrance, and some variation in expressivity. Earlier reports of familial ASD showing the autosomal-dominant pattern of inheritance reveal a similar frequency of prolonged A-V conduction among affected persons. The great majority of cases of ASD are sporadic, with little likelihood of recurrence in subsequent sibs or children. We suggest, however, that when ASD of the fossa ovalis type is accompanied by prolonged A-V conduction, the genetic prognosis may be drastically changed to a risk of almost 50% that the condition will recur in subsequent sibs or children of affected persons.