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Endocrine Abstracts (2024) 99 EP238 | DOI: 10.1530/endoabs.99.EP238

ECE2024 Eposter Presentations Reproductive and Developmental Endocrinology (78 abstracts)

Unveiling the uncommon nexus: kallmann syndrome and cardiomyopathy - a singular case study

Ahmed Hussien 1 & Maha Nasreldin 2


1University Hospital of Hairmyres, Cardiology, Glasgow, United Kingdom; 2Egyptian ministry of health, Cairo, Egypt


This case report delves into the intriguing connection between Kallmann syndrome and cardiomyopathy in a 62-year-old male who presented with new atrial fibrillation (AF) with rapid ventricular response and signs of fluid overload. Despite being a known case of Kallmann syndrome, the emergence of severe impaired left ventricular systolic dysfunction (LVSD) added a distinctive layer to the clinical scenario. Cardiomyopathy screenings for common causes like sarcoidosis, amyloidosis, and hemochromatosis proved negative. The patient’s management involved a combination of diuretics, direct oral anticoagulants (DOAC), bisoprolol, digoxin, eplerenone, and dapagliflozin. Notably, the rate control of the underlying atrial fibrillation and improvement in overload symptoms paved the way for outpatient direct current cardioversion (DCCV). This case highlights the rarity of the association between Kallmann syndrome and cardiologic diseases, shedding light on the complexity of endocrinological and cardiovascular interplay.

Introduction: Kallmann syndrome with cardiopathy is a rare genetic disorder affecting the reproductive and olfactory systems, characterised by hypogonadotropic hypogonadism associated with gonadotropin-releasing hormone (GnRH) deficiency, anosmia or hyposmia (with hypoplasia or aplasia of the olfactory bulbs) and complex congenital cardiac malformations (double-outlet right ventricle, dilated cardiomyopathy, right aortic arch). It represents a distinct clinical entity from Kallmann syndrome. This case challenges conventional expectations by revealing a noteworthy connection between Kallmann syndrome and severe LVSD.

Clinical Presentation: The patient’s presentation included fast AF and signs of fluid overload, necessitating diuretic therapy. Echocardiography unveiled a dilated left ventricle with an alarming ejection fraction (EF) of 25%, signifying severe LVSD.

Investigations: Blood tests were unremarkable. NT-pro BNP was raised. Chest X-ray showed pulmonary congestion. Thorough screening for common etiologies of cardiomyopathy such as sarcoidosis, amyloidosis, and hemochromatosis yielded negative results, emphasizing the atypical nature of this case.

Management: The multidisciplinary approach involved diuretics and the initiation of DOAC, bisoprolol, digoxin, eplerenone, ramipril and dapagliflozin. This regimen not only stabilized the patient’s heart rate but also led to a significant improvement in symptoms of fluid overload.

Outcome: With successful medical management, the patient’s heart rate was controlled, and symptoms of fluid overload resolved. Plans for outpatient DCCV were made to address the underlying rhythm disturbance.

Conclusion: This case serves as a unique exploration of the intersection between Kallmann syndrome and cardiomyopathy. The absence of common cardiologic culprits underscores the need for heightened awareness and further research into the intricate interplay between endocrinological disorders and cardiovascular manifestations.

Volume 99

26th European Congress of Endocrinology

Stockholm, Sweden
11 May 2024 - 14 May 2024

European Society of Endocrinology 

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