SAT-065 - From Broken Stalk to Broken Pump: Reversible Cardiomyopathy in Pituitary Stalk Interruption Syndrome

Pituitary stalk interruption syndrome (PSIS) is a condition that belongs to the holoprosencephaly spectrum during antenatal development [1]. It is a diagnosis that incorporates clinical findings of panhypotituitarism[1], and 3 distinct MRI findings are required to establish a diagnosis: aberrancies of the pituitary stalk, posterior pituitary gland that is not ectopic, and an absent or hypoplastic anterior pituitary gland [1]. Here, we present a case of PSIS induced cardiomyopathy and resultant recovery of cardiac function after endocrinologic intervention:

A 22-year-old male with known panhypopituitarism secondary to PSIS presented to the emergency department with symptoms of nausea and vomiting for 3 days. Initial evaluation noted the patient being encephalopathic and responsive only to physical stimuli. Signs of shock included hypotension unresponsive to fluids and severe end organ damage. No infectious etiology was identified. Intravenous (IV) vasopressors were started, and the patient was admitted to the ICU.

Endocrinologic investigations included a normal TSH but low free T4 and free T3. AM cortisol was low. IGF-1, growth hormone, FSH, and testosterone were all undetectable. Prolactin was normal.

An echocardiogram showed an ejection fraction (EF) of 20-25%, severely decreased global left ventricular (LV) systolic function, and severely increased LV internal cavity size. History later revealed that the patient had not been taking medications for PSIS due to poor health literacy. After initiation of IV hydrocortisone at stress doses and IV levothyroxine results in rapid improvement in blood and de-escalation of vasopressors. Prior to discharge he was transitioned on oral hormonal medications. A 6-month follow-up echocardiogram showed an EF of 40-45% and improvements in LV systolic function and cavity size.

In summary, it is reasonable to conclude that this patient’s shock and cardiomyopathy was secondary lack of treatment of his PSIS, and resultant cardiac recovery was because of adequate control of hormonal deficiencies. He has since then followed up in the clinic and lives a significantly improved quality of life.

Vergier J, Castinetti F, Saveanu A, Girard N, Brue T, Reynaud R. DIAGNOSIS OF ENDOCRINE DISEASE: Pituitary stalk interruption syndrome: etiology and clinical manifestations. Eur J Endocrinol. 2019 Nov;181(5):R199-R209. doi: 10.1530/EJE-19-0168. PMID: 31480013.

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