Key Takeaways
A 23-year-old man was admitted to the hospital with severe dyspnoea, elevated body temperature, and rhinorrhoea. Several endocrinological disorders were known in the patient’s family. Echocardiography provided critical clues for diagnosis.
The case report by cardiologist Mahmoud Gomaa and colleagues from Kafrelsheikh University Hospital in Kafr el-Sheikh, Egypt, highlighted the potential complications of acromegaly.
The Patient and His History
The patient presented with shortness of breath, palpitations, orthopnoea, rhinorrhoea, and fever for 2 weeks at a hospital in Kafr el-Sheikh. Three days after the onset of these symptoms, he experienced multiple episodes of vomiting and diarrhoea. He denied any preexisting conditions.
His family history revealed multiple endocrinologic disorders diabetes in both parents, acromegaly in an uncle, and a grandfather who had died of a myocardial infarction. The patient’s medication, social, drug, and travel histories were unremarkable.
Findings and Diagnosis
During examination, the patient’s body temperature was slightly elevated at 37.9 °C. Blood pressure level was 150/90 mm Hg, and heart rate was tachycardic at 110 beats/min. The respiratory rate was 22 breaths/min, exceeding the normal range.
Auscultation revealed fine basal lung crepitations and bilateral mild expiratory rhonchi. An early diastolic murmur was also detected. His neck veins were congested but not pulsating, and there was no lower limb oedema or ascites.
Laboratory tests showed an elevated brain natriuretic peptide level of 340 pg/mL, while other parameters were within the normal range.
A chest x-ray revealed bilateral mild pleural effusions and cardiomegaly. The ECG showed sinus tachycardia with inverted T waves in leads V3 and V4.
Transthoracic echocardiography revealed a mildly dilated and hypertrophic left ventricle, slightly impaired left ventricular systolic function with an ejection fraction of 48%, impaired diastolic function, moderate mitral regurgitation, and severe aortic regurgitation.
The aortic root was significantly dilated, measuring 3.2 cm at the annulus, 4.9 cm at the sinus of Valsalva, and 7.5 cm at the sinotubular junction.
Normal C-reactive protein and erythrocyte sedimentation rate levels ruled out vasculitis. Autoimmune tests, including antinuclear antibody and rheumatoid factor tests, were negative. The absence of physical features made Marfan syndrome and Ehlers-Danlos syndrome unlikely diagnoses.
Acromegaly was still suspected, so blood concentrations of insulin-like growth factor 1 (IGF-1) and growth hormone (GH) were measured. IGF-1 was elevated at 320 ng/mL, while GH was normal at 1.1 ng/mL following an oral glucose tolerance test.
A T2-weighted MRI scan of the brain revealed a 7 mm × 4 mm hyperintense mass in the sella turcica region.
Surgical removal of the pituitary microadenoma resulted in significant improvement in symptoms.
Discussion
The case report underscored “the value of considering genetic and familial factors” in acromegaly. Acromegaly cases are usually sporadic. In rare instances, acromegaly may be inherited, either as part of multiple endocrine neoplasia type 1 or as familial isolated pituitary adenoma.
Recent studies “have identified a few families where acromegaly is passed down through generations because of this condition.” However, more detailed research into the phenomenon is needed.
This article was translated from Univadis Germany using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.