Expanding the phenotype associated with the NEFL mutation: neuromuscular disease in a family with overlapping myopathic and neurogenic findings.

Importance: Newer sequencing technologies in combination with traditional gene mapping techniques, such as linkage analysis, can help identify the genetic basis of disease for patients with rare disorders of uncertain etiology. This approach may expand the phenotypic spectrum of disease associated with those genetic mutations.

Objective: To elucidate the molecular cause of a neuromuscular disease among a family in which 4 members, a mother and her 3 sons, were affected.

A compound heterozygous mutation in GPD1 causes hepatomegaly, steatohepatitis, and hypertriglyceridemia.

The constellation of clinico-pathological and laboratory findings including massive hepatomegaly, steatosis, and marked hypertriglyceridemia in infancy is extremely rare. We describe a child who is presented with the above findings, and despite extensive diagnostic testing no cause could be identified. Whole exome sequencing was performed on the patient and parents' DNA.

Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.

KCNJ8 (NM_004982) encodes the pore forming subunit of one of the ATP-sensitive inwardly rectifying potassium (KATP) channels. KCNJ8 sequence variations are traditionally associated with J-wave syndromes, involving ventricular fibrillation and sudden cardiac death. Recently, the KATP gene ABCC9 (SUR2, NM_020297) has been associated with the multi-organ disorder Cantú syndrome or hypertrichotic osteochondrodysplasia (MIM 239850) (hypertrichosis, macrosomia, osteochondrodysplasia, and cardiomegaly).

Changes in aortic root function after valve replacement in patients with aortic stenosis.

Background: Aortic elastic properties are compromised in various states that induce functional and histological changes in the aortic wall. Aortic stenosis is frequent and often requires replacement of the stenotic valve. The purpose of this study was to examine the effect of aortic valve replacement on the aortic root function.

Successful thrombolysis of a partially obstructed bileaflet prosthetic heart valve in the mitral position.

We describe the case of a woman who presented with dyspnea of abrupt onset and who had recently undergone replacement of the mitral valve with a bileaflet mechanical prosthesis. Transthoracic echocardiographic examination with spectral Doppler recording of transvalvular blood flow revealed a velocity spectrum consistent with obstruction. Transesophageal echocardiography demonstrated partial obstruction of the prosthetic valve due to immobilization of 1 hemidisc in the closed position.

Embolic stroke after "cured" prosthetic aortic valve endocarditis.

The authors report on the case of a patient with infective endocarditis of a prosthetic valve in the aortic position, after receiving percutaneous transluminal coronary angioplasty. Transesophageal echocardiography provided valuable information about the existence and size of vegetations at the time of initial diagnosis and during followup. Despite successful treatment resulting in good control of the infection and a significant reduction of vegetation size, the patient still suffered a major cerebral embolic event early after hospital discharge.