
Delving into Dilated Cardiomyopathy 1NN: The Role of Genetic Testing
Widening of the heart's main pumping chamber in DCM 1NN can lead to heart failure and arrhythmias, while variants found support earlier care and counseling.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.

Widening of the heart's main pumping chamber in DCM 1NN can lead to heart failure and arrhythmias, while variants found support earlier care and counseling.

A mutation in a gene encoding a pyrin-like protein underlies Familial Cold Autoinflammatory Syndrome 4, an inherited disorder linked to Muckle-Wells syndrome.

Abnormal fibrinogen may cause bleeding, clotting, or no symptoms at all. Mutations in the FGA, FGB and FGG genes are inherited in an autosomal dominant pattern.

HNF4A encodes a transcription factor for glucose metabolism and kidney function, so mutations produce renal reabsorption problems together with early diabetes.

Severe intellectual disability, epilepsy and cataracts follow FAR1 mutations that disturb lipid metabolism inside peroxisomes, a pattern DNA analysis can confirm.

Limited eye movement, drooping eyelids and a downward gaze in a newborn can point to KIF21A mutations; testing confirms CFEOM5 and shapes surgical planning.

Some mutations behind FSGS7 affect the eyes as well as the kidneys, so an ophthalmological evaluation sits alongside genetic testing and progression monitoring.

Biopsy is invasive and may miss the underlying gene change; DNA analysis can pin down FSGS 8, indicate how fast it may progress and inform family planning.