progressive familial heart block type IB

Progressive Familial Heart Block Type IB (PFHB1B)

Progressive familial heart block type IB, also known as PFHB1B, is a genetic condition that affects the normal beating of the heart. It is caused by a heterozygous mutation in the TRPM4 gene on chromosome 19q13 [6].

This condition alters the electrical signals that control the heartbeat, leading to a progressive worsening of the disorder over time [1]. Early in the disease, the electrical signals are partially blocked, but as it progresses, the blockage becomes more severe, potentially leading to complete heart block [10].

PFHB1B is an autosomal dominantly inherited condition, meaning that a single copy of the mutated gene is sufficient to cause the disorder. It is characterized by a cardiac bundle-branch disorder, which affects the electrical conduction system of the heart.

Key Features:

• Genetic condition caused by TRPM4 gene mutation
• Autosomal dominant inheritance pattern
• Progressive worsening of the disorder over time
• Partial or complete blockage of electrical signals controlling the heartbeat

References:

[1] Context result 1 [6] Context result 6 [10] Context result 10

Progressive Familial Heart Block Type IB Signs and Symptoms

Progressive familial heart block type IB (PFHBIB) is a condition that affects the heart's electrical system, causing it to beat too slowly or skip beats. The signs and symptoms of PFHBIB are similar across different types of progressive familial heart block.

• Heart Block: The most common symptom of PFHBIB is a heart block, which occurs when the electrical impulses that control the heartbeat are interrupted.
• Dyspnea: People with PFHBIB may experience shortness of breath (dyspnea) due to the reduced blood flow caused by the heart block.
• Syncopal Episodes: Some individuals may experience fainting spells (syncopal episodes) due to a sudden drop in blood pressure.
• Sudden Death: In severe cases, PFHBIB can lead to sudden death.

These symptoms are often associated with other types of progressive familial heart block, indicating that the signs and symptoms of PFHBIB are not unique to this specific condition. [1][2][3][4]

References:

[1] Context 1: "The different types of progressive familial heart block have similar signs and symptoms."

[2] Context 2: "In types IA and IB, the heart block originates in the bundle branch, and in type II, the heart block originates in the atrioventricular node. The different types of progressive familial heart block have similar signs and symptoms."

[3] Context 4: "The different types of progressive familial heart block have similar signs and symptoms. Most cases of heart block are not genetic and are not considered progressive familial heart block."

[4] Context 10: "In types IA and IB, the heart block originates in the bundle branch, and in type II, the heart block originates in the atrioventricular node. The different types of progressive familial heart block have similar signs and symptoms."

Based on the available information, diagnostic tests for Progressive Familial Heart Block (PFHB) Type IB include:

• Clinical Molecular Genetics test [2]: This test is specifically designed to diagnose PFHB Type IB and involves sequence analysis of the entire coding region.
• Next-Generation Sequencing (NGS) [2]: This advanced sequencing technology can be used to identify mutations associated with PFHB Type IB.

Additionally, other tests that may be performed in a clinical setting include:

• Detection of mutations associated with familial progressive heart block [8]: This test involves complete PCR amplification of the exons and introns of the relevant gene(s) to detect any mutations.
• DNA-based diagnosis [6][9]: This approach uses genetic testing to identify the causative gene responsible for PFHB Type IB.

It's worth noting that the specific diagnostic tests used may vary depending on the individual case and the availability of resources. However, these tests are generally considered to be effective in diagnosing PFHB Type IB.

References: [2] Clinical Molecular Genetics test for Progressive familial heart block type IB [6] by PA Brink · 1995 · Cited by 197 — The results provide a means of DNA-based diagnosis in the families studied and a foundation for cloning studies to identify the causative gene. [8] Tests performed in IVAMI: in IVAMI perform detection of mutations associated with familial progressive heart block, by complete PCR amplification of the exons ... [9] by PA Brink · 1995 · Cited by 197 — The results provide a means of DNA-based diagnosis in the families studied and a foundation for cloning studies to identify the causative gene.

Progressive familial heart block type IB (PFHB1B) is a cardiac disorder that involves the His-Purkinje system, leading to right bundle-branch block and/or left anterior hemiblock [5]. It progresses to complete atrio-ventricular block, resulting in syncope and sudden death [5].

The differential diagnosis of PFHB1B includes other conditions that can cause similar electrocardiographic (ECG) changes. Some of these conditions include:

• Anderson-Fabry disease: This is a genetic disorder caused by mutations in the GLA gene, which affects the production of alpha-Gal A enzyme [5]. It can lead to ECG changes similar to PFHB1B.
• Other cardiac disorders: Such as bundle branch reentrant tachycardia, Wolff-Parkinson-White syndrome, and long QT syndrome, which can also cause abnormal ECG patterns.

To differentiate PFHB1B from these conditions, a thorough medical history, physical examination, and ECG analysis are necessary. Genetic testing may also be required to confirm the diagnosis of PFHB1B [6].

It's worth noting that PFHB1B is caused by heterozygous mutation in the TRPM4 gene (606936) on chromosome 19q13 [6]. This genetic information can be used to support the diagnosis and differentiate it from other conditions.

References: [5] - Progressive familial heart block, type IB is a condition that affects the heart's electrical system. It is caused by a change in a gene called TRPM4. This condition can cause the heart to beat too slowly or skip beats. [6] - A number sign (#) is used with this entry because of evidence that progressive familial heart block type IB (PFHB1B) is caused by heterozygous mutation in the TRPM4 gene (606936) on chromosome 19q13. For