progressive familial heart block type II

Progressive Familial Heart Block Type II (PFHB2) Description

Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder characterized by heart block developing as sinus bradycardia with a left bundle branch block pattern [5]. It is similar to type I progressive familial heart block (PFHB1; see 113900), but with distinct clinical features.

Key Features of PFHB2

• Autosomal dominant inheritance pattern
• Heart block originates in the atrioventricular node
• May progress to complete atrioventricular (AV) block
• Clinical manifestations include dyspnea, fatigue, and palpitations [8]
• Can be asymptomatic or manifest with conduction abnormalities and dilated cardiomyopathy (DCM) [10]

Progression of PFHB2

The progression of clinical features in PFHB2 has been observed, with the disease potentially leading to complete AV block [7]. This highlights the importance of early diagnosis and management to prevent further complications.

References

• [5] Progressive familial heart block type II (PFHB2) is an autosomal dominant disorder characterized by heart block developing as sinus bradycardia with a left bundle branch block pattern.
• [8] A genetic cardiac rhythm disease that may progress to complete atrioventricular (AV) block. The disease is either asymptomatic or manifests as dyspnea, fatigue, and palpitations.
• [10] An autosomal dominant cardiac disorder characterised by conduction abnormalities and DCM, termed progressive familial heart block type II (PFHB2).

Similar Signs and Symptoms Across Types

The different types of progressive familial heart block, including type II, have similar signs and symptoms [1]. Most cases of heart block are not genetic and are not considered progressive familial heart block [1].

Specific Symptoms for Type II

In people with progressive familial heart block type II (PFHBII), the condition worsens over time: early in the disorder, the electrical signals are partially blocked, but the symptoms may include:

• Dyspnea (shortness of breath)
• Dizziness
• Syncope (fainting)
• Abdominal pain
• Heart failure or sudden death [4]

Symptoms Depending on Type

The symptoms depend on the type of heart block you have. For second-degree heart block, which includes PFHBII, you might experience:

• Lightheadedness and syncope [9]
• Syncopal episodes, Stokes-Adams seizures, or sudden death when complete heart block supervenes [11][13]

First-Degree Heart Block

In contrast, first-degree heart block may have no bothersome symptoms. However, second-degree (incomplete) heart block, which includes PFHBII, can cause some of the above-mentioned symptoms.

References:

[1] The different types of progressive familial heart block have similar signs and symptoms. [4] In people with progressive familial heart block type II (PFHBII), the condition worsens over time: early in the disorder, the electrical signals are partially blocked, but the symptoms may include... [9] Patients with second-degree AV block may be asymptomatic or they may experience variety of symptoms such as lightheadedness and syncope. [11] The pattern of PFHB2, however, tends to develop along the lines of a sinus bradycardia with a left posterior hemiblock, presenting clinically as syncopal

Diagnostic Tests for Progressive Familial Heart Block Type II

Progressive familial heart block type II (PFHB2) is a genetic condition that affects the normal beating of the heart. To diagnose this condition, several tests can be employed.

• Electrocardiography (ECG): ECG is used to determine the type of second-degree atrioventricular (AV) block present in PFHB2 patients [7]. Follow-up ECGs and cardiac monitoring are also recommended.
• Family History: A family history of syncope, pacemaker implantation, and sudden death can be indicative of PFHB2 [3].
• Echocardiogram (ECG) Findings: ECG findings showing a heart block developing as sinus bradycardia with a left bundle branch block pattern are characteristic of PFHB2 [6].

Clinical Tests

Several clinical tests are available to diagnose PFHB2, including:

• Targeted variant analysis (5)
• Sequence analysis of select exons (2)
• Deletion/duplication analysis (1)

These tests can help identify the genetic mutations responsible for PFHB2.

References:

[3] Context 3 [6] Context 6 [7] Context 7

Based on the available information, it appears that there are limited treatment options for Progressive Familial Heart Block (PFHB) Type II.

• According to search result [9], PFHB Type II is an integrated disease information page that includes associated genes, mutations, phenotypes, pathways, and drugs. However, no specific drug treatments are mentioned.
• Search result [2] mentions that patients with Mobitz I (Wenckebach) AV block secondary to increased vagal tone may respond to theophylline, glycopyrrolate, or scopolamine. However, it is unclear if these medications would be effective for PFHB Type II specifically.
• Search result [10] discusses first-degree and second-degree heart blocks, but does not provide information on drug treatment for PFHB Type II.

Unfortunately, there appears to be limited information available on the specific drug treatment options for Progressive Familial Heart Block Type II. It is essential to consult with a healthcare professional for personalized medical advice and treatment.

Possible Treatment Options:

• No specific drug treatments are mentioned in the search results.
• Theophylline, glycopyrrolate, or scopolamine may be considered for patients with Mobitz I (Wenckebach) AV block secondary to increased vagal tone, but their effectiveness for PFHB Type II is unclear.

Recommendation:

Consult a healthcare professional for personalized medical advice and treatment. They can provide guidance on the most effective course of action based on individual circumstances.

Citations: [2], [9], [10]

The differential diagnosis for progressive familial heart block type II (PFHB2) includes several conditions that can present with similar symptoms and electrocardiogram (ECG) findings.

• Brugada syndrome: This is a genetic disorder that affects the heart's electrical system, leading to abnormal ECG patterns and an increased risk of sudden cardiac death. [1]
• Idiopathic ventricular fibrillation: This is a condition where the heart's ventricles suddenly start beating irregularly, often without any apparent cause. [2]
• Long QT syndrome: This is a genetic disorder that affects the heart's electrical system, leading to abnormal ECG patterns and an increased risk of sudden cardiac death. [3]
• Lupus neonatal: This is a rare condition where a newborn develops symptoms of lupus, including heart problems. [4]
• Sudden infant death syndrome (SIDS): This is a mysterious condition where a seemingly healthy baby dies suddenly and unexpectedly. [5]

It's worth noting that the differential diagnosis for PFHB2 also includes other conditions such as progressive familial heart block type I, Brugada syndrome, idiopathic ventricular fibrillation, long QT syndrome, lupus neonatal, and sudden infant death syndrome. [6][7][8][