
Decoding the Heart: Genetic Testing in Dilated Cardiomyopathy 1HH
Fatigue, breathlessness and heart failure follow the ventricular weakening of DCM 1HH, and identifying variants can inform family planning and prenatal testing.

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.

Fatigue, breathlessness and heart failure follow the ventricular weakening of DCM 1HH, and identifying variants can inform family planning and prenatal testing.

Because DCM1U often runs in families, relatives can be screened for the pathogenic variants found in 50.8% of adults in a Romanian study of dilated cardiomyopathy.

Ventricular enlargement and weakening in DCM1V can bring heart failure and arrhythmias, and the page covers early detection, family screening and lifestyle advice.

An ECG pattern usually read as harmless has been linked to ventricular fibrillation; genetic markers help sort higher-risk patients and guide monitoring.

Muscle jerks triggered by stress, fatigue or alcohol appear in adulthood alongside generalized seizures; dominant inheritance, testing and counseling are explained.

Bouts of incoordination, often set off by stress, exercise or caffeine, trace to CACNA1A, where the R1345Q mutation has been identified in episodic ataxia type 5.

Recessive mutations in LMAN1 or MCFD2 block transport of two clotting factors, causing nosebleeds, bruising and bleeding after surgery; gene testing confirms it.

An altered FADD gene weakens immune regulation, leaving patients prone to infection and to neuroinflammation such as FIRES; testing can identify the mutation.