Aborted Sudden Cardiac Death and a Mother with Suspected Metabolic Myopathy

Abstract

Aborted sudden cardiac death (SCD) has not been reported as initial manifestation of cardiac involvement in metabolic myopathy (MM). A 20-year-old female with a previous history of three syncopes, hyperhidrosis, and recurrent tick bites experienced aborted SCD. Her mother presented with MM, and a history of pituitary adenoma, nephroptosis, arterial hypertension, depression, migraine, goiter, pancreatitis, osteoporosis, hyperhidrosis, multiple muscle ruptures, and hyperlipidemia. After a few days of disorientation and amnesia, the young female recovered completely. Clinical neurological examination was noticeable for partial ophthalmoparesis and mild hyperprolactinemia. She received an implantable cardioverter defibrillator, which did not discharge so far. Recurrent syncopes and aborted SCD may be the initial manifestation of MM with multiple organ involvement. The family history is important in cases with aborted SCD to guide the diagnostic work-up. Phenotypic heterogeneity between the family members may be an indicator of MM.

Cerebral Manifestations of Mitochondrial Disorders

“…66 Pituitary adenoma has been reported in LHON 67 and some nsMIDs. 68 Supplementation of decreased hormone levels has been tried with a beneficial effect in single cases. 69…”

“…Hypopituitarism has been reported in MELAS, 64 KSS, 65 or nsMIDs from mutations in the isoleucyl t-RNA synthetase gene 66 . Pituitary adenoma has been reported in LHON 67 and some nsMIDs 68 . Supplementation of decreased hormone levels has been tried with a beneficial effect in single cases 69 …”