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Journals / Haseki Tıp Bülteni / 2015 / Cilt: 53 - Sayı: 3

Infantile Pompe Disease Presenting with Severe Hypertrophic Cardiomyopathy: A Case Report Süleyman Bayraktar, Bilge Tanyeri Bayraktar*, Murat Elevli

Ağır Hipertrofik Kardiyomiyopati ile Kendini Gösteren İnfantil Pompe Hastalığı: Olgu Sunumu

Süleyman BAYRAKTAR
Bilge BAYRAKTAR
MURAT ELEVLİ
Pages
266–268
DOI
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AI Summary & Key Takeaways

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⚡ TL;DR(Too Long; Didn't Read)

We aimed to present a case of infantile Pompe disease in a patient who had giant QRS complexes in electrocardiographic monitoring and hypertrophic cardiomyopathy involving the interventricular septum and the left ventricle on echocardiography. (The Me­di­cal Bul­le­tin of Ha­se­ki 2015; 53: 266-8)

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Infantile Pompe disease (glycogen storage disease type 2) is a fatal disease with autosomal recessive inheritance, leading to hypertrophic cardiomyopathy, hypotonia and respiratory failure.
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Key Findings & Data:It is a progressive condition due to accumulation of glycogen in the muscles.
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Conclusion & Impact:We aimed to present a case of infantile Pompe disease in a patient who had giant QRS complexes in electrocardiographic monitoring and hypertrophic cardiomyopathy involving the interventricular septum and the left ventricle on echocardiography. (The Me­di­cal Bul­le­tin of Ha­se­ki 2015; 53: 266-8)
🔬Design:Research Article
📍Scope:2015 Verileri
⚙️Variables:Domain Parameters

Abstract

Infantile Pompe disease (glycogen storage disease type 2) is a fatal disease with autosomal recessive inheritance, leading to hypertrophic cardiomyopathy, hypotonia and respiratory failure. It is a progressive condition due to accumulation of glycogen in the muscles. We aimed to present a case of infantile Pompe disease in a patient who had giant QRS complexes in electrocardiographic monitoring and hypertrophic cardiomyopathy involving the interventricular septum and the left ventricle on echocardiography. (The Me­di­cal Bul­le­tin of Ha­se­ki 2015; 53: 266-8)

Özet

İnfantil Pompe hastalığı (Glikojen depo hastalığı tip 2), hipertrofik kardiyomiyopati, hipotoni ve solunum yetmezliği ile giden, otosomal resesif geçiş gösteren fatal bir hastalıktır. Kaslarda biriken glikojen nedeniyle ilerleyici bir seyir gösterir. Bu yazıda solunum ve kalp kaslarının tutulduğu, EKG’sinde dev QRS kompleksleri, ekokardiyografisinde interventriküler septum ve sol ventrikülde hipertrofik kardiyomiyopatisi olan olgumuzu sunmak istedik. (Ha­se­ki T›p Bül­te­ni 2015; 53: 266-8)

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Cite This Article

BAYRAKTAR, S., BAYRAKTAR, B., ELEVLİ, M. (2015). Infantile Pompe Disease Presenting with Severe Hypertrophic Cardiomyopathy: A Case Report Süleyman Bayraktar, Bilge Tanyeri Bayraktar*, Murat Elevli. Haseki Tıp Bülteni, Cilt: 53 - Sayı: 3, 266–268. https://ajindex.com/articles/220219

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