Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a life-threatening inherited cardiomyopathy with an estimated prevalence of 1 per 5000 individuals characterized by the replacement of the cardiac myocytes with fibrofatty tissue leading to ventricular arrhythmias, right ventricular failure, and sudden cardiac death. ARVD/C is commonly inherited in an autosomal dominant manne...

The penetrance of schizophrenia risk in carriers of the 22q11.2 deletion is high but incomplete, suggesting the possibility of additional genetic defects. We performed whole exome sequencing on two individuals with 22q11.2 deletion, one with schizophrenia and the other who was psychosis-free. The results revealed novel genetic variants related to neuronal function exclusively in the person with...

Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a life-threatening inherited cardiomyopathy with an estimated prevalence of 1 per 5000 individuals characterized by the replacement of the cardiac myocytes with fibrofatty tissue leading to ventricular arrhythmias, right ventricular failure, and sudden cardiac death. ARVD/C is commonly inherited in an autosomal dominant manne...

Hemolytic uremic syndrome (HUS) is a triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. The atypical form of HUS is a disease characterized by complement overactivation. Inherited defects in complement genes and acquired autoantibodies against complement regulatory proteins have been described. Incomplete penetrance of mutations in all predisposing genes is r...

Segregation analysis was performed on 354 cases of chronic proximal spinal muscular atrophy of childhood and adolescence (CPSMA) in the total series and in a number of subgroups formed according to the age at onset and sex. The analysis provided evidence of sex influence in the series studied, particularly in a subgroup of the milder form of the disease with onset between the 37th month and 18t...

Introduction FMF is considered an autosomal recessive autoinflammatory syndrome caused by single gene (MEFV) mutations. Recently, it has been known that also heterozygous mutation carriers can suffer from a mild or incomplete form of FMF, named FMF-like disease. Among Armenians, who have relatively high carrier rate of MEFV mutations, single mutation has been detected in about 1/5 of symptomati...

We report three cases which highlight the complex considerations surrounding genetic counselling for pulmonary arterial hypertension (PAH). The first counselee developed PAH symptoms shortly after his daughter's death from PAH and was diagnosed with a delay of 1 year. An early diagnosis of familial PAH was established in the second counselee. Oral therapy was initiated immediately, and her func...

In this issue of Circulation, Parikh and colleagues1 present an elegant study that lies at the intersection of 2 recent major developments in cardiovascular research—the recognition of the role of microRNAs in normal and abnormal cardiovascular biology, and the introduction of computational systems biology approaches to elucidate the mechanisms of cardiovascular disease. This work provides conv...

Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare, sporadic condition usually present at birth characterized by localized or generalized persistent cutis marmorata, telangiectasia and phlebectasia. We report a preterm female newborn, the third child of non-related caucasian parents, with CMTC at birth who showed typical cutaneous features and monolateral congenital glaucoma. The pathog...