37y/o man comes in with 1mo history of progressively worsening dyspnea. CXR, symptoms, all show obvious right sided heart failure. murmur of tricuspid regurg. History of lots of syncope from age 3mo to 3 years. he's got a kid also, age one, with a history of syncope from age 3mo to 1yr.

Any idea of what congenital heart defects can look like this?

I need more history. Consider IHSS? I think it is autosomal dom, can have diastolic LHF leading to dyspnea, RHF and TR in advanced dz. Syncope, certainly is sugestive. You would need a 2d echo to see if there is an increased EF. I don't think IHSS menifests itself w/syncope as early as a very young child, but I am not sure. This is just off the top of my head.

PCN

37y/o man comes in with 1mo history of progressively worsening dyspnea. CXR, symptoms, all show obvious right sided heart failure. murmur of tricuspid regurg. History of lots of syncope from age 3mo to 3 years. he's got a kid also, age one, with a history of syncope from age 3mo to 1yr.

Any idea of what congenital heart defects can look like this?

I need more history. Consider IHSS? I think it is autosomal dom, can have diastolic LHF leading to dyspnea, RHF and TR in advanced dz. Syncope, certainly is sugestive. You would need a 2d echo to see if there is an increased EF. I don't think IHSS menifests itself w/syncope as early as a very young child, but I am not sure. This is just off the top of my head.

PCN
Ebstein's anomaly??? :confused:

Not sure about structural defects, but as far as the syncope that appears to have been passed on to the kid, that sounds suspicious for Long QT syndrome. However, that is solely an electrical problem and if present still does not explain the rest.

37y/o man comes in with 1mo history of progressively worsening dyspnea. CXR, symptoms, all show obvious right sided heart failure. murmur of tricuspid regurg. History of lots of syncope from age 3mo to 3 years. he's got a kid also, age one, with a history of syncope from age 3mo to 1yr.

Any idea of what congenital heart defects can look like this?

your case kinda rang a bell... i think there is a type of ASD that affects the mitral valve too causing regurg. ASD can also present with all of the sx you described and often becomes symptomatic at this guy's age. i think ASD can be hereditary. of course, ASD is more common in women...

i give up.
:o

your case kinda rang a bell... i think there is a type of ASD that affects the mitral valve too causing regurg. ASD can also present with all of the sx you described and often becomes symptomatic at this guy's age. i think ASD can be hereditary. of course, ASD is more common in women...

i give up.
:o

I believe what you are referring to is an ostium primum ASD, which can affect the AV valves, and it is entirely possible that children are at increased risk of having this if a parent does. The weird thing then would be that the patient (apparently) had no prior history of a heart murmur--usually congenital defects like ASD's are diagnosed early in life when someone hears a murmur.

The other thing that doesn't fit is that cardiac syncope is either secondary to an arrhythmia or decreased cardiac output (as in AS or HOCM); yet the rest of the symptoms are right-sided. Unless there is a defect causing RHF and arhhythmias....?

Most common cause of RHF = LHF. Later stages of HOCM can present c peripheral edema, JVD, etc., in addition to the earlier problems of DOE and SCD among others. What I want to know is has this guy gotten an echo yet?

I already pointed this out, look above.

"I need more history. Consider IHSS? I think it is autosomal dom, can have diastolic LHF leading to dyspnea, RHF and TR in advanced dz. Syncope, certainly is sugestive. You would need a 2d echo to see if there is an increased EF. I don't think IHSS menifests itself w/syncope as early as a very young child, but I am not sure. This is just off the top of my head."

PCN
Most common cause of RHF = LHF. Later stages of HOCM can present c peripheral edema, JVD, etc., in addition to the earlier problems of DOE and SCD among others. What I want to know is has this guy gotten an echo yet?

Why are they getting it at the same time? Infectious etiology perhaps? Why did this guy get it within 6-12 months of his kid, but has no Hx of it? Could be an underlying cardiac defect with a superimposed acute condition...I dunno. What's it sound like? ;)

hereditary syncope... that is the best :)

37y/o man comes in with 1mo history of progressively worsening dyspnea. CXR, symptoms, all show obvious right sided heart failure. murmur of tricuspid regurg. History of lots of syncope from age 3mo to 3 years. he's got a kid also, age one, with a history of syncope from age 3mo to 1yr.

Any idea of what congenital heart defects can look like this?

Most likely diagnosis is Primary Pulmonary Hypertension. It can present with right sided heart failure and TR with dysphoea and syncope. Only thing is, Primary Pulmonary Hypertension is more common among women than men.

It is not IHSS, because IHSS is more of a left sided structural anomaly and is associated with mitral regurg and not tricuspid regurg. Though most common cause of Right Heart Failure is Left HF, it will present with symptoms of both Left HF and right HF, not with RHF alone. So, IHSS with RHF without LHF findings (in the CXR) is unlikely.

Ebstein's anomaly presents with Cynosis.

he said there is obvious RHF, but there was no comment on if there is pulmonary edema on CXR. There was some dyspnea. ?PND/?orthopnea (LHF==>RHF). I have never heard of hereditary PPH. Syncope, although certainly poss in PPH, would not be expected in his kid. Unless, you think that the disease processes of dad and his kid are unrelated to each other. I think IHSS should be high on the diff.

PCN

Most likely diagnosis is Primary Pulmonary Hypertension. It can present with right sided heart failure and TR with dysphoea and syncope. Only thing is, Primary Pulmonary Hypertension is more common among women than men.

It is not IHSS, because IHSS is more of a left sided structural anomaly and is associated with mitral regurg and not tricuspid regurg. Though most common cause of Right Heart Failure is Left HF, it will present with symptoms of both Left HF and right HF, not with RHF alone. So, IHSS with RHF without LHF findings (in the CXR) is unlikely.

Ebstein's anomaly presents with Cynosis.

i have been waiting and waiting ... hoping that a good IM diagnosis would be made.... but it hasn't, so i will just have to throw in the obvious diagnosis.

Arrhythmogenic Right Ventricular Hyperplasia.... it is hereditary, it causes syncope, it involves RV failure and usually leads to death in the 30s/40s...

i have been waiting and waiting ... hoping that a good IM diagnosis would be made.... but it hasn't, so i will just have to throw in the obvious diagnosis.

Arrhythmogenic Right Ventricular Hyperplasia.... it is hereditary, it causes syncope, it involves RV failure and usually leads to death in the 30s/40s...

:eek: :eek: :eek: :eek: :eek: :eek: :cool: :cool: ;)

i have been waiting and waiting ... hoping that a good IM diagnosis would be made.... but it hasn't, so i will just have to throw in the obvious diagnosis.

Arrhythmogenic Right Ventricular Hyperplasia.... it is hereditary, it causes syncope, it involves RV failure and usually leads to death in the 30s/40s...

I thought it was Arrhythmogenic Right Ventricular Dysplasia...and I didn't think it manifested itself at such a young age as that of the patient when he started having syncopal episodes, or that of his son. It's a progressive disease in which myocardium in the RV is replaced by fatty/fibrous tissue; therefore, I would think that would take a while to happen, so wouldn't it take a little while to start causing symptoms (even just the arrhythmias)?

ARVD or ARVH or ARVC ... all the same thing... while you are right, there are reported cases of syncope in infancy...