Transplantation of heterozygous familial hypercholesterolemia living donor liver resulting in early myocardial infarction: a possible dangerous link.

Living donor liver transplantation (LDLT) is a lifesaving procedure that is often curative for several liver diseases. Familial hypercholesterolemia (FH) is a metabolic disease that results from an autosomal dominant mutation in the low-density lipoprotein receptor; yet, young patients with FH can live years without detection. Herein, we report a case of a patient who developed early myocardial infarction (MI) after having a transplant from a donor with undetected heterozygous FH.

Right-sided infective endocarditis and pulmonary embolism: a multicenter study.

The incidence of right-sided infective endocarditis (RSIE) is steadily increasing and it has been reported to be associated with high risk of embolic events (EE). Aim of our study was to identify the clinical characteristics of patients with RSIE complicated by PE. Indeed, the identification of patients at high risk of significant PE who will benefit from a more aggressive therapeutic strategy may improve the prognosis.

Features and behavior of valvular abnormalities in adolescent and adult patients in mucopolysaccharidosis: an echocardiographic study.

Mucopolysaccharidoses, a rare inherited disorder of lysosomal storage, account for less than 0.1% of all genetic diseases.  The penetrance is highly variable and clinically it varies from severe fetal-neonatal forms to attenuated diseases diagnosed in adult individuals.

Contrast transesophageal three dimensional echocardiographic imaging for patent foramen ovale: a needful role?

We report a case of a 55-year-old male admitted for cardiogenic embolic ischemic stroke work up. A transesophageal (TE) echocardiography (E) with contrast study to rule out patent foramen ovale (PFO) was performed; two-dimensional (2D) analysis did not detect any bubbles passage during Valsalva manoeuvre in the standard 2D cross sectional planes; further real time three-dimensional (3D) TEE imaging revealed passage of bubbles in the left atrium (LA) by both real-time 3DTEE imaging and by the 2D unconventional cross-sectional planes allowed by 3DTEE imaging. Even though 2DTEE is considered to be the gold standard modality for diagnosing PFO, it has some limitations.

Use of Adjunctive Therapy to Achieve Preoperative Euthyroidism in Graves' Disease: A Case Report.

BACKGROUND Graves' disease is an autoimmune disease of the thyroid gland and it is considered the most common cause of hyperthyroidism. It is characterized by particular eye manifestations, skin changes, and pretibial myxedema in addition to the signs and symptoms of hyperthyroidism. Graves' disease can be diagnosed based on clinical presentation and low thyroid stimulating hormone (TSH) and elevated free T4 (FT4) levels.

Three dimensional echocardiographic imaging of multiple recurrent myxomas.

We report a case of a recurrence of 5 cardiac myxomas in both atria with atypical anatomical features difficult to image. Although a multimodality imaging was performed, three-dimensional echocardiography (3DE) was the only technique able to correctly identify all the recurrences and the anatomical characteristics of the myxomas. MRI detected the blood supply of the mass but even after careful review was able to identify only 4 of the 5 lesions.