Elsevier

Mayo Clinic Proceedings

Volume 66, Issue 8, August 1991, Pages 792-796
Mayo Clinic Proceedings

Causes of Death in Patients With Tuberous Sclerosis

https://doi.org/10.1016/S0025-6196(12)61196-3Get rights and content

Of the 355 patients with tuberous sclerosis complex (TSC) examined at the Mayo Clinic, 49 had died (9 of causes other than TSC). We attempted to determine what pattern of organ involvement occurred most often in the 40 patients who died of TSC. One baby died of cardiac failure due to cardiac rhabdomyomas, and one child died of rupture of an aneurysm of the thoracic aorta. Eleven patients died of renal disease, which was the commonest cause of death. Ten patients died as a result of brain tumors, and four patients (who were 40 years of age or older) died of lymphangiomyomatosis of the lung. Thirteen patients with severe mental handicaps died of either status epilepticus or bronchopneumonia; in all but one of these patients, the only source of information was the death certificate. Survival curves show a decreased survival for patients with TSC in comparison with that for the general population. Patients with TSC need lifelong follow-up for early detection of potentially life-threatening complications.

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

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    *

    Current address: Craigavan Hospital, Lurgan, Co Armagh, Northern Ireland.

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