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Arrhythmogenic right ventricular cardiomyopathy is a predominantly inherited structural disease with a heterogeneous set of implicated genetic defects. For those patients not identified by targeted population screening programs, ventricular tachycardia can be their first presentation. We report a case of a female from the genetically isolated Hutterite colonies who presented with recurrent ventricular tachycardia. She was found to be homozygous for a truncated desmocollin-2 gene, with both severe right ventricular dysfunction and left ventricular involvement. Her medical management was complicated by the finding of concomitant pre-term pregnancy. Management options for arrhythmia suppression and treatment are reviewed taking into account her decompensated biventricular dysfunction and possible fetal effects. [ABSTRACT FROM AUTHOR]

Bowen-Conradi syndrome (BCS) is a common lethal condition amongst infants of Hutterite ancestry. We describe a newborn infant with features of BCS, which may mimic trisomy 18 and other conditions such as cerebro-oculo-facial syndrome (COFS) and CHARGE syndrome. We describe the constellation of clinical findings in BCS. We believe this is the first case of BCS clinically confirmed by molecular testing for mutation in the EMG1 gene. [ABSTRACT FROM AUTHOR]

Obesity risk is amplified in the presence of obese relatives yet does not usually follow classic Mendelian inheritance patterns. A combination of gene mutations, deletions and single nucleotide polymorphisms are all known to contribute to obesity. Most cases are polygenic, the result of multiple genes interacting with a changing environment. Each "obesity gene" only makes a small contribution to phenotype, but collectively, inherited genetic variations play a major role in determining body mass and how the body responds to physical activity and nutrition. While obesity is most commonly associated with polygenic inheritance, there are other instances in which the cause is monogenic or syndromic. Monogenic obesity typically is caused by a single gene mutation with severe obesity as the main symptom. Syndromic obesity, on the other hand, has many characteristics, of which obesity is one symptom. [ABSTRACT FROM AUTHOR]

Obesity risk is amplified in the presence of obese relatives yet does not usually follow classic Mendelian inheritance patterns. A combination of gene mutations, deletions and single nucleotide polymorphisms are all known to contribute to obesity. Most cases are polygenic, the result of multiple genes interacting with a changing environment. Each "obesity gene" only makes a small contribution to phenotype, but collectively, inherited genetic variations play a major role in determining body mass and how the body responds to physical activity and nutrition. While obesity is most commonly associated with polygenic inheritance, there are other instances in which the cause is monogenic or syndromic. Monogenic obesity typically is caused by a single gene mutation with severe obesity as the main symptom. Syndromic obesity, on the other hand, has many characteristics, of which obesity is one symptom. [ABSTRACT FROM AUTHOR]

Bowen-Conradi syndrome (BCS) is a common autosomal recessive condition in the Hutterite population. In 2012, when BCS clinical testing was not available, we reported two babies believed to have BCS based upon their clinical features. Diagnostic molecular testing is now available for this condition. We describe here a brother born to the parents of one of the infants in our previous report. Although clinically both babies in the 2012 report appeared to have the same condition, this current infant was found to have a normal EMG1 gene sequence, and thus, lacks the Hutterite mutation for BCS. We discuss the importance of molecular testing in the Hutterite population. [ABSTRACT FROM AUTHOR]