Causes of Death in Patients With Tuberous Sclerosis
Section snippets
METHODS
All patients with TSC examined at the Mayo Clinic were identified by a computer search of the medical records. TSC was diagnosed on the basis of published criteria.3 We reviewed the medical records of all patients with TSC to determine their current clinical signs and symptoms related to TSC. Further information about the patient's current clinical status was obtained by using a standard questionnaire. When a patient's death was reported, the cause was ascertained by reviewing the autopsy
RESULTS
Of the 355 patients with TSC who had been assessed at the Mayo Clinic, 49 (26 female and 23 male patients) were known to have died, and 50 had been lost to follow-up. The other 256 patients were directly contacted to establish their current health status. In 9 of the 49 patients who had died, the cause of death was considered not directly attributable to TSC. The distribution of ages of the 40 patients who died of TSC is shown in Figure 1, and the distribution of deaths by cause of death and by
DISCUSSION
Although 49% of our patients with TSC who are alive and who were examined by echocardiography (most of whom are children) had one or more rhabdomyomas, only 1 death in 40 could be attributed to this tumor (obstruction of the ventricular outflow tracts by intracavitary tumors in a 3-day-old baby). Rhabdomyomas can be embedded in the myocardium or can protrude into a cardiac cavity.6 Echocardiographic studies have shown that rhabdomyomas shrink as the patient ages.7 Although a published study
REFERENCES (35)
- et al.
Cardiac rhabdomyoma: a clinicopathologic and electron microscopic study
Am J Cardiol
(1976) - et al.
Aneurysms of the abdominal aorta in the neonate and infant
Ann Vasc Surg
(1989) - et al.
Renal lesions in tuberous sclerosis
J Urol
(1987) - et al.
The cystic renal lesion in tuberous sclerosis
J Pediatr
(1980) - et al.
Angiomyolipoma causing life-threatening hematuria in a child with tuberous sclerosis
J Pediatr Surg
(1989) - et al.
Renal angiomyolipoma associated with lymph node involvement and renal cell carcinoma in patients with tuberous sclerosis
J Urol
(1989) - et al.
Angiomyolipoma and renal cell carcinoma in same kidney
Urology
(1975) - et al.
Renal cell carcinoma and angiomyolipoma in tuberous sclerosis: case report
J Urol
(1986) - et al.
Giant cell astrocytoma in tuberous sclerosis: computed tomographic findings
Clin Radiol
(1986) - et al.
Tuberous sclerosis: early neurologic manifestations and CT features in 18 patients
Brain Dev
(1979)
Varieties of expression of tuberous sclerosis
Neurofibromatosis
Ophthalmic findings
Criteria for diagnosis
Nonparametric estimation from incomplete observations
J Am Stat Assoc
Subependymal giant-cell astrocytoma associated with tuberous sclerosis: do subependymal nodules grow?
Childs Nerv Syst
Cardiac rhabdomyomata in tuberous sclerosis: their course and diagnostic value
Arch Dis Child
Sudden death from multiple rhabdomyomata of the heart
J Pathol Bacteriol
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Current address: Craigavan Hospital, Lurgan, Co Armagh, Northern Ireland.