Related Experiment Video

Updated: Apr 20, 2026

Chronic Thromboembolic Pulmonary Hypertension and Assessment of Right Ventricular Function in the Piglet
09:22

Chronic Thromboembolic Pulmonary Hypertension and Assessment of Right Ventricular Function in the Piglet

Published on: November 4, 2015

12.7K

Chronic thromboembolic pulmonary hypertension complicated with homocystinuria

Shinpei Ogawa1, Tetsuji Katayama, Koichi Kaikita

  • 1Department of Cardiovascular Medicine, Graduate School of Medical Sciences, Kumamoto University, Japan.

Internal Medicine (Tokyo, Japan)
|November 18, 2014
PubMed

Insights

Homocystinuria can lead to pulmonary hypertension and thrombi. Balloon pulmonary angioplasty (BPA) effectively treated pulmonary thrombi in a young patient, improving hemodynamics and exercise capacity.

Area of Science:

  • Cardiology
  • Pulmonology
  • Medical Genetics

Background:

  • Homocystinuria is a rare genetic disorder associated with a high risk of thromboembolic events.
  • Pulmonary hypertension (PH) is a serious complication that can arise from chronic thromboembolic disease.
  • Early diagnosis and management are crucial for improving outcomes in patients with homocystinuria-related complications.

Observation:

  • A 17-year-old male with homocystinuria presented with a systolic murmur, leading to the diagnosis of pulmonary hypertension (PH) and pulmonary thrombi.
  • Standard anticoagulation therapy for 12 months showed partial improvement but failed to resolve thrombi in lobar branches.
  • Medical management with vasodilators and anticoagulants was ineffective in improving the patient's worsening PH.

Findings:

  • Balloon pulmonary angioplasty (BPA) was successfully performed to remove persistent pulmonary thrombi.
  • BPA resulted in significant improvement in the patient's hemodynamics and exercise tolerance.
  • The patient requires close monitoring for potential future thrombotic events.

Implications:

  • BPA represents a viable therapeutic option for managing chronic thromboembolic pulmonary hypertension (CTEPH) in select patients, particularly those with underlying genetic conditions.
  • This case highlights the complex interplay between genetic disorders, thrombotic complications, and cardiovascular health.
  • Further research into long-term outcomes and optimal management strategies for homocystinuria-associated CTEPH is warranted.

More Related Videos

In Vitro Microfluidic Disease Model to Study Whole Blood-Endothelial Interactions and Blood Clot Dynamics in Real-Time09:19

In Vitro Microfluidic Disease Model to Study Whole Blood-Endothelial Interactions and Blood Clot Dynamics in Real-Time

Published on: May 24, 2020

10.0K
Left Atrial Stenosis Induced Pulmonary Venous Arterialization and Group 2 Pulmonary Hypertension in Rat08:34

Left Atrial Stenosis Induced Pulmonary Venous Arterialization and Group 2 Pulmonary Hypertension in Rat

Published on: November 18, 2018

7.8K

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
812
Pulmonary Hypertension: Classification and Pathogenesis01:30

Pulmonary Hypertension: Classification and Pathogenesis

Pulmonary hypertension (PH) is a severe health condition in which the mean pulmonary arterial pressure increases to 25 mmHg or more, even when the body is at rest. This high pressure in the blood vessels that transport blood from the heart to the lungs can cause various symptoms, including shortness of breath, can lead to right heart failure, and significantly affect the overall quality of life.
There are various classifications for PH, each relating to different underlying causes and also...
911
Pulmonary Embolism I: Introduction01:19

Pulmonary Embolism I: Introduction

A blood clot, or thrombus, is a semi-solid mass composed of fibrin, platelets, and red blood cells. When it forms within a vessel, it can obstruct blood flow, known as thrombosis. If part of the clot detaches, it becomes an embolus that can travel and block distant vessels. When this occurs in the pulmonary arteries, it causes a condition known as pulmonary embolism (PE).Origin and ImpactMost often, the embolus originates from a thrombus in the deep veins of the lower limbs, a condition called...
19
Pulmonary Embolism I: Introduction01:29

Pulmonary Embolism I: Introduction

Pulmonary embolism (PE) occurs when a thrombus, fat or air embolus, amniotic fluid, or tumor tissue blocks one or more pulmonary arteries. These blockages originate in the venous system or the right side of the heart.EtiologyPE primarily arises from deep vein thrombosis (DVT) and other hypercoagulable states, such as inherited thrombophilias. Additional etiological factors include venous stasis, commonly seen in obesity, and endothelial injury from surgery and trauma. Less common causes include...
1.4K
Treatment for Pulmonary Arterial Hypertension: Receptor Tyrosine Kinase Inhibitors and Calcium Channel Blockers01:26

Treatment for Pulmonary Arterial Hypertension: Receptor Tyrosine Kinase Inhibitors and Calcium Channel Blockers

Receptor tyrosine kinase inhibitors (TKIs) and calcium channel blockers (CCBs) are two critical categories of drugs employed in the treatment of pulmonary artery hypertension (PAH). PAH is a disease that causes high blood pressure in the pulmonary arteries, resulting in chest pain, fatigue, and shortness of breath.
TKIs, such as imatinib (Gleevec), are particularly effective in tackling the growth and mitogenic factors that become upregulated in PAH patients. These factors contribute to the...
673
Chronic Obstructive Pulmonary Disease-III: Symptoms and Complications.01:25

Chronic Obstructive Pulmonary Disease-III: Symptoms and Complications.

Understanding the variety of primary symptoms and systemic complications that characterize chronic obstructive pulmonary disease (COPD) is crucial for healthcare professionals.
Symptoms of COPD can be classified as primary or systemic. Primary symptoms relate to reduced airflow, while systemic or extrapulmonary symptoms relate to COPD's broader impact on the body.
Primary Symptoms of COPD:
4.2K