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Journals / The Anatolian Journal of Cardiology / 2021 / Cilt: 25 - Sayı: 10

Restrictive cardiomyopathy with ring chromosome 6 anomaly in a child

Süleyman SUNKAK
Aslıhan KİRAZ
Mustafa ARGUN
İlkay ERDOĞAN
Pages
745–746
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

This article reports a case of RCM with a ring chromosome 6 anomaly [r6 (p25q27)], which to the authors’ knowledge, has not previously been reported in the literature.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Restrictive cardiomyopathy (RCM) is a rare disease characterized by restrictive filling and decreased diastolic volume of the heart.
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Key Findings & Data:It is the rarest cardiomyopathy among all cardiomyopathies with approximately 2.5%–5% ratio (1).
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Conclusion & Impact:This article reports a case of RCM with a ring chromosome 6 anomaly [r6 (p25q27)], which to the authors’ knowledge, has not previously been reported in the literature.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Özet

Restrictive cardiomyopathy (RCM) is a rare disease characterized by restrictive filling and decreased diastolic volume of the heart. It is the rarest cardiomyopathy among all cardiomyopathies with approximately 2.5%–5% ratio (1). The prognosis is poor and if transplant is not performed, death usually occurs two to three years after diagnosis (2). The ring chromosome 6 anomaly is an extremely rare chromosomal anomaly. It is formed by breakage in the terminal portions of chromosome 6 and then the re-fusion of these broken terminal parts (3). This article reports a case of RCM with a ring chromosome 6 anomaly [r6 (p25q27)], which to the authors’ knowledge, has not previously been reported in the literature.

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Cite This Article

SUNKAK, S., KİRAZ, A., ARGUN, M., ERDOĞAN, İ. (2021). Restrictive cardiomyopathy with ring chromosome 6 anomaly in a child. The Anatolian Journal of Cardiology, Cilt: 25 - Sayı: 10, 745–746. https://ajindex.com/articles/365108

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References (10)

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