49 research outputs found

    Cardiac Involvement in Glycogen Storage Disease Type IV: Two Cases and the Two Ends of a Spectrum

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    Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder due to the deficiency of α 1,4-glucan branching enzyme, resulting in an accumulation of amylopectin-like polysaccharide in various systems. We describe two cases, a 23-year-old girl with dilated cardiomyopathy who presented with progressive dyspnea and fatigue and a 28-year-old girl with hypertrophic cardiomyopathy who was asymptomatic, secondary to the accumulation of amylopectin-like fibrillar glycogen, in heart. In both patients, the diagnosis was confirmed by enzyme assessment. Our patients showed that GSD IV is not only liver or skeletal muscle disease, but also it can be presented in different form of the spectrum of cardiomyopathy from dilated to hypertrophic and from asymptomatic to decompensated heart failure. Also, to our knowledge, this is the first hypertrophic cardiomyopathy case due to GSD IV in the literature

    Thrombi in the right atrium and inferior vena cava mimicking myxoma in a patient with recurrent pulmonary thromboembolism

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    A 26-year-old male patient presented with complaints of pain, dyspnea, and hemoptysis of one-week history, while on oral anticoagulation treatment that had been started two years before upon the diagnosis of pulmonary thromboembolism. Transthoracic echocardiography showed two mass lesions in the right atrium and inferior vena cava, measuring 3.5x3 cm and 1.5x1 cm, respectively. The possibility of vegetation or secondary cardiac tumor was excluded by further examinations and, considering consistent oral anticoagulation, no other cause could be determined related to thrombus formation. Multiple cardiac myxomas were thought for the differential diagnosis and the patient underwent surgery. Histopathologic diagnosis of both masses was thrombus

    Atrial Dissection‐Like Appearance Caused by an Inferior Sinus Venosus Atrial Septal Defect with an Unroofed Defect

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    Mini-Abstract Atrial dissection is an uncommon entity and is generally associated with mitral valve interventions. However, atrial dissection-like appearance has been also reported and atrial dissection might be considered as an important differential diagnosis. We present the interesting image of a left atrial dissection-like appearance, which was actually caused by a dilated unroofed coronary sinus (CS) with inferior sinus venosus (SV)-type atrial septal defect (ASD).Unexplained volume overload of right-sided chambers should prompt for careful evaluation for SV type of ASD (superior or inferior), unroofed CS type of ASD, and partial anomalous pulmonary venous drainage

    Severe Tricuspid Regurgitation Diagnosed 13 Years after a Car Accident: A Case Report

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    Blunt chest traumas mostly occur due to car accidents and can cause many cardiac complications such as septal rupture, free-wall rupture, coronary artery dissection or thrombosis, heart failure, arrhythmias, and chordae and papillary muscle rupture. One of the most serious complication is tricuspid regurgitation (TR), which can be simply diagnosed by physical examination and confirmed by echocardiography. We describe a 48-year-old female patient, diagnosed with severe TR 13 years after a blunt chest trauma due to a car accident. TR was diagnosed with transthoracic echocardiography and three dimensional transthoracic echocardiography had defined the exact pathology of the tricuspid valve. The patient underwent successful surgery with bioprosthetic valve implantation and was discharged at 6th postoperative day without any complication. The patient had no problem according to the follow-up one month and six months after operatio

    Atrioventricular Block Induced by Mad-Honey Intoxication Confirmation of Diagnosis by Pollen Analysis

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    An unusual type of food poisoning, mad-honey intoxication, can be observed in the Black Sea region of Turkey and various other parts of the world. It can occur after ingestion of grayanotoxin-contaminated honey produced from the nectar of Rhododendron ponticum and other plant species, chiefly of the Ericaceae and Sapindaceae families. Mad-honey intoxication can result in severe cardiac complications, such as complete atrioventricular block. The diagnosis is generally reached on the basis of the patient's history of honey intake. In this report, we describe the case of a patient who had mad-honey-related complete atrioventricular block; in this instance, the diagnosis was confirmed by a pollen analysis of the suspect honey. (Tex Heart Inst J 2009;36(4):342-4
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