A 25 year old man comes to your OPD with complaints of weakness, spells of dizziness, and shortness of breath on walking.

 A 25 year old man comes to your OPD with complaints of weakness, spells of dizziness, and shortness of breath on walking.

He occasionally gets palpitations as well. On checking his oxygen saturation, it is 84 percent. His BP is 120/70 mmHg and there is no oedema of the legs.

On Auscultation of the heart , you hear a pansystolic murmur.

On examination of his hands, you note the findings given below:

1. What are the findings in the hands?

2. What is the most likely Diagnosis?

3. What causes this disease?

4. Which investigations should be performed?

5. What are the complications of this condition?

6 .What are the management options for this patient?

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1. Clinical findings in the hands:

Clubbing

Peripheral Cyanosis

2. Most likely Diagnosis:

Ventricular septal defect with development of Eisenmenger syndrome.

Individuals with Eisenmenger syndrome often have a ventricular septal defect or a “hole in the heart” between the left and right pumping chambers in the heart.

This results in significant shunting of blood from the left side of the heart to the right at birth, which progresses to pulmonary vascular disease.

Symptoms of Eisenmenger syndrome vary depending on the heart defect and affected organs. They do not usually occur until people are in their teens, 20s or 30s. The signs slowly get worse.

3. Causes of Ventricular Septal Defect :

Chromosomal abnormalities / Genetic causes.

Poor Diabetes control during pregnancy.

Infections during pregnancy.

Medications having side effects, consumed during pregnancy.

Increased smoking and alcohol consumption during pregnancy.

4. Investigations to be performed:

Full Blood Count

Clinical examination

Oxygen saturation / Pulse oximetry

ECG

Chest X ray.

Echocardiogram (Simple) and Transesophageal Echocardiogram / TOE

Cardiac CT scan and MRI.

5. Complications :

Cyanotic spells

Infective Endocarditis

Polycythemia

Septic emboli

Clubbing

Paradoxical embolization.

Brain abscess

Haemoptysis.

6. Management:

Usually, in congenital VSD / Ventricular septal defect , surgery should be performed in the first year of life and includes closure of the Ventricular septal defect and surgical correction of other co-existent abnormalities.

However as this patient wasn't treated with surgery during childhood, his treatment would now mainly be Pharmacological and includes medications from the below categories :

A. ACE Inhibitors like captopril and lisinopril are used to treat CCF and Hypertension that develops in this disease.

B . Betablockers such as Atenolol, Carvedilol and Bisoprolol are used to treat Hypertension, but in this case can be used to treat cardiac arrhythmias.

C. Antiplatelets such as Aspirin and Clopidrogel are used to prevent development of thrombosis and subsequent Stroke or Myocardial infarction.

There is a high chance of these incidents in patients with VSD due to persistent Hypoxia.

Other medications include

Sildenafil to treat arterial hypertension.

Diuretics to reduce load on heart.

Bosentan to treat pulmonary hypertension

And Digoxin to treat irregular heart beats

Further Reading : https://www.mayoclinic.org/.../symptoms-causes/syc-20350580

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