April - June 2025, Volume 21, Issue 2

Tekin I, Buber I, Topsakal S

Acromegaly and MYBPC3 Mutation: A Synergistic Impact on Cardiomyopathy Development

Acta Endo (Buc) 2025, 21 (2): 256-260
doi: 10.4183/aeb.2025.256

Acromegaly is commonly associated with cardiomyopathy due to chronic overproduction of growth hormone (GH) and insulin-like growth factor 1 (IGF-1), leading to biventricular hypertrophy, diastolic dysfunction, and in advanced cases, systolic dysfunction and heart failure. This case report presents a 42-year-old male diagnosed with acromegaly, who underwent successful resection of a pituitary macroadenoma. At diagnosis, GH was 12.0 [ng/ mL] and IGF-1 was 670 [ng/mL] (age-adjusted ULN: 218). An oral glucose tolerance test was performed; GH failed to suppress below 7.20 [ng/mL]. Despite surgical intervention, the patient experienced persistent cardiac symptoms including exertional dyspnea and breathlessness, which prompted further cardiovascular evaluation. Cardiac examinations revealed significant hypertrophy of the interventricular septum and the left ventricular anterior wall, findings confirmed by echocardiography and cardiac magnetic resonance. Remarkably, genetic analysis identified a heterozygous mutation in the MYBPC3 gene, known to cause hypertrophic cardiomyopathy. This mutation likely exacerbated the patient's cardiac condition, suggesting a compounded effect of acromegaly and a genetic predisposition to cardiomyopathy. This case underscores the importance of considering genetic factors in acromegalic patients presenting with cardiomyopathy to tailor personalized management strategies. Further research is warranted to explore the interplay between hormonal excess and genetic mutations in cardiomyopathy development.

Keywords: acromegaly, MYBPC3 gene mutation, cardiomyopathy.

Correspondence: Isik Tekin MD, Pamukkale University, Medical School, Department of Cardiology, Pamukkale, 20160, Turkiye, E-mail: itekin@pau.edu.tr