MYH7 mutation identified by next-generation sequencing in three infant siblings with bi-ventricular noncompaction presenting with restrictive hemodynamics: A report of three siblings with a severe phenotype and poor prognosis.

Noncompaction of the ventricular myocardium (NVM) is a genetically heterogeneous cardiomyopathy. Various mutations associated with NVM have been identified in several genes. NVM patients usually present with complications of dilated cardiomyopathy.

Congenital left ventricular aneurysm coexisting with left ventricular non-compaction in a newborn.

Described herein is the case of a rare combination of congenital left ventricular (LV) aneurysm and left ventricular non-compaction (LVNC) in a newborn. The patient developed refractory heart failure soon after birth and died at 5 months of age. The etiology of both congenital LV aneurysm and LVNC seems to be maldevelopment of the ventricular myocardium during early fetal life.

Biopsy-proven myocardial sequels in Kawasaki disease with giant coronary aneurysms.

Background: Although most Kawasaki disease with giant coronary aneurysms is asymptomatic, conventional investigations might not identify previous lesions, or all Kawasaki disease with giant aneurysms at risk of future myocardial lesions. We evaluated the long-term histopathology of the myocardium, especially of intramural small vessels in asymptomatic Kawasaki disease with giant aneurysms.

Method: The initial study comprised 16 consecutive Kawasaki patients - male-to-female ratio was 12:4 - aged from 2 to 12 years, and in the subsequent study, the same patients were aged from 4.

Lung biopsy diagnosis of operative indication in secundum atrial septal defect with severe pulmonary vascular disease.

Objective: Surgical indication was determined by lung biopsy in 91 patients with secundum atrial septal defect (ASD) and severe pulmonary hypertension > 70 mm Hg of pulmonary arterial peak pressure and/or pulmonary vascular resistance of > 8 U/m(2).

Methods And Results: Pulmonary vascular disease (PVD) in ASD was classified into four types: (1) Musculoelastosis consisting of longitudinal muscle bundles and elastic fibers; surgery is indicated no matter how severely the peripheral small pulmonary arteries are occluded. Surgery was performed in all of the 20 patients, and the postoperative course was uneventful.

Three novel mutations of the fibrillin-1 gene and ten single nucleotide polymorphisms of the fibrillin-3 gene in Marfan syndrome patients.

Marfan syndrome (MFS) is an autosomal dominant disorder of the extracellular matrix. Allelic variations in the gene for fibrillin-1 ( FBN1) have been shown to cause MFS. To date, over 550 mutations have been identified in patients with MFS and related connective tissue diseases.