A young man with shortness of breath and hyperextensible joints

Kaushik Sundar, 8th Semester medical student, VIMSARC, Bangalore—Sept 2006

Case Log--1 (pics taken on mobile phone-verbal consent taken from patient)

When we are in the under graduate program of medicine, it is necessary to see cases in the medicine wards towards the evening since there would be interesting cases which would have been admitted throughout the day. Ironical isn’t it? Another persons suffering is actually something interesting for us? But this irony I realized only when I met P...

It was a Monday and after the weekend I was going to the wards in the evening to see the new admissions. And there on the bed I saw a youngster like me sitting and was looking very malnourished and severely icteric. But what was amazing was the smile he gave the moment he saw me. It had so much of warmth in it. I went and approached him and started taking his history. He said-

“Hello sir! My name is P… and I am coming from one of the suburbs of Bangalore. And I am a carpenter. Though I look so weak believe it or not, I am twenty years old”

My thoughts-- a person 20 years, why should he be so malnourished?

“I have come to this hospital because I have been having breathing problems for the past 2 months.”

My thoughts- Breathing problems? I thought he was admitted for jaundice?

“I was pretty much normal before two months sir, when I started developing difficulty in breathing especially when working. Initially it was only during unaccustomed work. But as time went on I started becoming breathless even when I was doing my normal work. Off late even the slightest amount of work I do, I end up panting”

My thoughts - Is it C.V.S (cardiovascular system)? Let me probe further on his C.V.S symptoms…

“Yes sir my breathlessness is associated with palpitations. It’s so severe that I have to immediately sit down for 5 mins so that they come down. I have also had dizziness over the past 2 months but have never lost consciousness at any part of time. I don’t have any chest pain. I do not have any calf pain”

My thoughts - Hmmm! Lets ask something more specific…

“My sleep is not that disturbed. But I have had occasional episodes of breathlessness in the nights. It’s a very bad experience.  Its as if my life is going to end that moment. I am absolutely startled and panicky. I rush to the windows and try to get some fresh air. Then my breathing starts becoming normal. I then go for a walk and then sleep off. After that I don’t have such episodes during that night.”

My thoughts - Is it a PND (paroxysmal nocturnal dyspnoea)??

“Also sir, I have never vomited blood nor I have passed any bloody stools. I have not had any swelling of my legs or my abdomen. I have not suffered any rheumatic fever.”

My thoughts - What about SABE (sub acute bacterial endocarditis)?

“No sir I have not had any fever over the last two months. Even if it has occurred it was very mild, not so high that it impaired my daily routine. I do not have any sore throats or upper respiratory tract infections”

My thoughts - What about his jaundice?

“My mother had jaundice and she died when I was four years old and my father says that my symptoms are similar as hers and I shall die soon too”

Nothing much could then be elicited from the history so I went for examination-

General Physical examination

Pulse- 82 beats per minute, regular, low volume, bilaterally symmetrical, no radio femoral delay and vessel wall was normal…

B.P.- 110/50 mm of hg, My thoughts - What a wide pulse pressure?

Respiratory cycles- 20 cycles per minute. My thoughts - Is he tachypnoeic?

Pallor- patient is highly pale

 

Icterus- severe, you can see it in that image (uploaded photo 1)

My thoughts - hemolytic anemia???

 


No cyanosis, clubbing or generalized lymphadenopathy.   

But pedal edema was present. Just over the ankle.

And then I proceeded on with the famous head to toe examination….
And there was an amazing discovery. His joints were hyper extensible. Especially his metacarpo-phalangeal joints and his knee and ankle joints. The carrying angle at the elbow joint was also wider.

 

Surprised, I examined his palate, it was higher than normal.

 (Uploaded photo 2)

I then measured the length of his body, his upper half to his lower half ratio was lesser than one….
 

 
Suspecting it to be Marfan’s syndrome I examined his eyes, both the eyes were normal. The lens was in its normal position.

I went on to examine his cardio vascular system-
ON INSPECTION:-
There was a huge bulge in the precardial area… a bulge that could probably be termed as pectus carinatum.

 

NOTE THE BULGE (uploaded photo 3)

His j.v.p was normal. There were no visible pulsations over the cardiac area.

ON PALPATION:-
His apex beat was shifted laterally, which indicated that he had a cardiomegaly. The apex beat was hyperdynamic. There was a palpable murmur over the mitral area that radiated upto the aortic area. It corresponded with the systole of the heart. His blood pressure was 110/50- wide pulse pressure

ON AUSCULTATION:-
On auscultation I could not hear the s1 very clearly, as it was muffled by the PANSYSTOLIC MURMUR which was best heard in the mitral area. There was probably a splitting of s2, in the pulmonary area, which a friend, who was examining the case with me, told.

PROVISIONAL DIAGNOSIS- A case of anemia with mitral regurgitation and marfanoid features.

The senior doctors had advised an ECHO to confirm their diagnosis. But P… couldn’t afford it. He subsequently got discharged, without much of any treatment. I met him on the day when he got discharged. He had a big smile on his face when the doctors explained the facts to him. I remember his words, I know that it will be difficult for me to live with this problem for long, but at least I have been some help to you. Good-bye.

And that was an interesting case, a case that made me feel as if every patient is actually a teacher, who allows you to learn through his suffering.

Learning Points/further reading for the day—

1)   Read theory on causes of Dyspnoea-Pulmonary, cardiac.
2)   Causes of Pallor and icterus—teacher’s/mentor’s correction—presence of icterus is difficult to comment in the presence of pallor
3)   Marfanoid features
4)   Cardiac auscultation