Decoding enigma: Turner syndrome with ring chromosome.

Area of Science:

• Genetics
• Cardiology
• Endocrinology

Background:

• Turner syndrome is a chromosomal condition affecting females, often associated with various health issues.
• Ring X chromosome is a rare variant of Turner syndrome, with limited data on its specific clinical manifestations.
• Congestive cardiac failure (CCF) and dilated cardiomyopathy (DCM) are known complications in Turner syndrome, but their association with ring X chromosome is exceptionally rare.

Observation:

• A young female patient presented with symptoms of congestive cardiac failure, including anasarca, jaundice, and orthopnea.
• She exhibited characteristic features of Turner syndrome such as growth retardation, intellectual disability, primary amenorrhea, and specific dysmorphic traits.
• Echocardiography revealed dilated cardiomyopathy with an intracardiac thrombus, and skeletal surveys showed short metacarpals/tarsals.

Findings:

• Karyotyping confirmed a mosaic pattern with 45,X/46,X,r(X)(p22.3q28), indicating Turner syndrome with a ring X chromosome.
• The patient's presentation of DCM and heart failure was directly linked to this rare chromosomal abnormality.
• Management involved vasopressors, anticoagulants for the thrombus, and hormone replacement therapy.

Implications:

• This case underscores the association between ring X chromosome in Turner syndrome and the development of dilated cardiomyopathy.
• It emphasizes the importance of comprehensive cardiac evaluation in patients with rare chromosomal abnormalities.
• Highlights the need for tailored management strategies for complex cases of Turner syndrome involving cardiac complications.