A case report of an acute coronary syndrome in a 10-year-old boy with homozygous familial hypercholesterolaemia.

Background: Familial hypercholesterolaemia is a well-known disorder, but clinical diagnoses tend to be delayed. Acute coronary syndrome may occur in childhood.

Case Summary: Our patient, a young boy with homozygous familial hypercholesterolaemia, complained of persistent chest pain at rest and suffered a non-ST-elevation myocardial infarction (NSTEMI).

Cardiomyopathy due to PRDM16 mutation: First description of a fetal presentation, with possible modifier genes.

PRDM16 (positive regulatory domain 16) is localized in the critical region for cardiomyopathy in patients with deletions of chromosome 1p36, as defined by Gajecka et al., American Journal of Medical Genetics, 2010, 152A, 3074-3083, and encodes a zinc finger transcription factor. We present the first fetal case of left ventricular non-compaction (LVNC) with a PRDM16 variant.

Supraventricular tachycardias, conduction disease, and cardiomyopathy in 3 families with the same rare variant in TNNI3K (p.Glu768Lys).

Background: Rare genetic variants in TNNI3K encoding troponin-I interacting kinase have been linked to a distinct syndrome consisting primarily of supraventricular tachycardias and variably expressed conduction disturbance and dilated cardiomyopathy in 2 families.

Objective: The purpose of this study was to identify new genetic variants associated with inherited supraventricular tachycardias, cardiac conduction disease, and cardiomyopathy.

Methods: We conducted next generation sequencing in 3 independent multigenerational families with atrial/junctional tachycardia with or without conduction disturbance, dilated cardiomyopathy, and sudden death.

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.

Autosomal dominant genetic diseases can occur de novo and in the form of somatic mosaicism, which can give rise to a less severe phenotype, and make diagnosis more difficult given the sensitivity limits of the methods used. We report the case of female child with a history of surgery for syndactyly of the hands and feet, who was admitted at 6 years of age to a pediatric intensive care unit following cardiac arrest. The electrocardiogram (ECG) showed a long QT interval that on occasions reached 500 ms.

Usefulness of MRI in the follow-up of patients with repaired aortic coarctation and bicuspid aortic valve.

Background: The long-term outcome of repaired aortic coarctation may be complicated by dilatation of the ascending aorta notably in patients with bicuspid aortic valve. Magnetic resonance imaging was used to compare the size of the ascending aorta in patients with bicuspid or tricuspid aortic valve.

Methods: In 50 patients with a repair of aortic coarctation, the size of the ascending aorta was measured in a bicuspid aortic valve group (n=11) and a tricuspid aortic valve group (n=39).

Bacterial endocarditis complicating mitral annular calcification: a clinical and echocardiographic study.

Background And Aim Of The Study: Although described in a number of necropsy studies, endocarditis on mitral annular calcification (MAC) has rarely been reported during life. The study aim was to assess the frequency and specific features of bacterial endocarditis complicating MAC.

Methods: Data relating to 62 cases of infective endocarditis of the native mitral valve diagnosed with multiplane transesophageal echocardiography (TEE) over a five-year period were collected prospectively.

False Aneurysm of the Aortic Root and Right Ventricular Outflow Obstruction: An Unusual Complication of Surgically Treated Infective Endocarditis.

Aortic root abscess often complicates the course of aortic valve endocarditis. In severe cases, left ventricular-aortic discontinuity may occur, providing challenging technical problems for the surgeon. Moreover, surgical intervention sometimes takes place in a semi-emergency context, and the patches and prosthesis are sutured into friable tissues and subjected to high systemic pressures.