Familial myxomas in four siblings

Area of Science:

• Cardiology
• Genetics
• Oncology

Background:

• Cardiac myxomas are typically sporadic, with familial occurrence being exceedingly rare in medical literature.
• Previous reports documented only two instances of familial cardiac myxomas.
• Understanding the genetic basis and familial patterns of cardiac myxomas is crucial for early diagnosis and management.

Observation:

• This report presents a unique case series of four siblings diagnosed with cardiac myxomas.
• Three of the affected siblings presented with multiple cardiac myxomas.
• One sibling required surgical excision of four distinct cardiac myxomas.

Findings:

• The study documents a significant familial aggregation of cardiac myxomas, challenging the notion of their extreme rarity.
• Multiple myxomas were observed in a majority of the affected siblings, suggesting a potential predisposition.
• Detailed clinical findings, patient history, physical examination, and surgical treatment outcomes are presented for all affected individuals.

Implications:

• The findings suggest a potentially underestimated genetic component in the etiology of cardiac myxomas.
• This case series underscores the importance of family screening for cardiac myxomas in individuals with a confirmed diagnosis.
• Further research into the genetic underpinnings of familial cardiac myxomas may lead to improved diagnostic strategies and targeted therapies.