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Condition report · Cardiovascular

Cardiac Conduction Disease and Sick Sinus Syndrome

Inherited conditions that affect the heart's electrical wiring, slowing the heartbeat or blocking signals between the upper and lower chambers. They often progress with age and may need a pacemaker.

A condition report looks for rare variants known to cause the conditions it covers.

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The 7 conditions we analyse

SCN5A-Related Cardiac Rhythm Disorder

Autosomal dominant

A range of heart rhythm conditions caused by changes in SCN5A, including conduction disease, sick sinus syndrome, Brugada syndrome, long QT syndrome type 3 and atrial fibrillation, usually in a structurally normal heart.

What a diagnosis changes

Knowing about it supports ECG monitoring, avoiding certain medicines, and ECG screening of relatives.

Genes analysed

Includes 6 related subtypes ↓
  • atrial fibrillation, familial, 10
  • Brugada syndrome 1
  • long QT syndrome 3
  • progressive familial heart block, type 1A
  • sick sinus syndrome 1
  • ventricular fibrillation, paroxysmal familial, type 1
MONDO:1010181

Progressive Familial Heart Block

Autosomal dominant

An inherited conduction disorder, caused by changes in genes such as SCN5A and TRPM4, that can progress to complete heart block, causing dizziness, fainting or, rarely, sudden death.

What a diagnosis changes

Knowing about it supports regular ECG checks and timely pacemaker implantation.

Genes analysed

Also known as

familial Lenègre disease; familial Lev-Lenègre disease; hereditary bundle branch defect

Includes 3 related subtypes ↓
  • progressive familial heart block type IB
  • progressive familial heart block type II
  • progressive familial heart block, type 1A
MONDO:0019490Orphanet 871

Familial Sick Sinus Syndrome

An inherited dysfunction of the heart's natural pacemaker, caused by changes in genes such as HCN4, SCN5A and MYH6, that causes slow or irregular heart rhythms.

What a diagnosis changes

Knowing about it supports monitoring for slow heart rhythms and a pacemaker if symptoms develop.

Genes analysed

Also known as

familial sinus node dysfunction; hereditary sick sinus syndrome; sick sinus syndrome 1, autosomal recessive; SSS1

Includes 4 related subtypes ↓
  • sick sinus syndrome 1
  • sick sinus syndrome 2, autosomal dominant
  • sick sinus syndrome 4
  • sinus node disease and myopia
MONDO:0012061Orphanet 166282MedGen 573766

Atrial Conduction Disease

Autosomal dominant

A disorder in which electrical conduction through the upper chambers of the heart is disrupted, which can lead to atrial standstill and slow rhythms.

Genes analysed

Also known as

CARDIAC conduction disease with or without dilated cardiomyopathy; CCDD

MONDO:0014500

TNNI3K-Related Cardiac Conduction Disease

Autosomal dominant

A condition caused by changes in TNNI3K that combines conduction disease and atrial rhythm disturbances, sometimes with dilated cardiomyopathy.

What a diagnosis changes

Knowing about it supports ECG and heart-muscle monitoring.

Genes analysed

MONDO:0700388OMIM 616117MedGen 1896118

Cardiac Conduction Defect

A general term for disorders of electrical conduction in the heart, including inherited forms of atrioventricular block.

Genes analysed

Also known as

cardiac conduction disorder; conduction disorder; disorder of cardiac conduction; heart conduction disorder

Includes 9 related subtypes ↓
  • Adams-Stokes syndrome
  • atrioventricular block
  • atrioventricular dissociation
  • congenital heart block
  • first-degree atrioventricular block
  • Mobitz type I atrioventricular block
  • Mobitz type II atrioventricular block
  • second-degree atrioventricular block
  • third-degree atrioventricular block
MONDO:0100042OMIM 115080MedGen 78114

Other cardiovascular conditions

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