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ORPHA:1478 Interatrial communication #169

Open Orphanet-ES opened 9 months ago

Orphanet-ES commented 9 months ago

Dear all,

A Spanish coder has contacted us regarding ORPHA:1478 Interatrial communication.

According to Orphanet, in the epidemiology section, "As a group, the prevalence at birth is between 6 to 9/10 000". On the other hand, in the disease identification card, the prevalence is "1-9 / 100 000". Although the first data is the prevalence at birth, and the second is not, the difference between both values is quite extreme, which is why I wonder if there is an error in the assignment of the second value.

Besides, according to the literature provided by the expert: : "The natural course of isolated ASDs varies from spontaneous closure in secundum ASDs to asymptomatic right ventricular enlargement and to increasing symptoms with age. Spontaneous closure of ASDs, noted in approximately 40 percent of secundum ASDs, mostly occurs when ASDs are small, usually less than 8 mm in diameter, and in childhood. Secundum ASDs ≥8 mm in diameter and those in adults do not typically close spontaneously. Primum ASDs, sinus venosus defects, and coronary sinus defects do not close spontaneously. (See "Isolated atrial septal defects (ASDs) in children: Classification, clinical features, and diagnosis", section on 'Natural history'.)"

I don't know if with this we can interpret that, although the prevalence at birth is high (and non rare), the rare cases are those in which a "spontaneous closure in secundum ASDs" does not occur (60% of cases). If so, perhaps it should be clarified in the abstract.

These are other references that the expert provided us:

Geggel RL. Clinical Detection of Hemodynamically Significant Isolated Secundum Atrial Septal Defect. J Pediatr. 2017 Nov;190:261-264.e1. doi: 10.1016/j.jpeds.2017.07.037. Epub 2017 Sep 14. PMID: 28918881.

Schwedler G, Lindinger A, Lange PE, Sax U, Olchvary J, Peters B, Bauer U, Hense HW. Frequency and spectrum of congenital heart defects among live births in Germany : a study of the Competence Network for Congenital Heart Defects. Clin Res Cardiol. 2011 Dec;100(12):1111-7. doi: 10.1007/s00392-011-0355-7. Epub 2011 Sep 10. PMID: 21909849.

Gelernter-Yaniv L, Lorber A. The familial form of atrial septal defect. Acta Paediatr. 2007 May;96(5):726-30. doi: 10.1111/j.1651-2227.2007.00240.x. PMID: 17462063.

Helgason H, Jonsdottir G. Spontaneous closure of atrial septal defects. Pediatr Cardiol. 1999 May-Jun;20(3):195-9. doi: 10.1007/s002469900439. PMID: 10089243.

Kind regards,

María Elena

moi-epiUS14 commented 8 months ago

Hi Maria Elena,

I appreciate your patience, I was on vacation for the past few weeks.

I looked at the entity, and I agree that the epidemiology is confusing. I am going to dive in deeper and will come back to you in a few weeks.

Best, Moi

Orphanet-ES commented 7 months ago

Dear @moi-epiUS14,

Is there any news regarding this ORPHA?

Kind regards,

María Elena

moi-epiUS14 commented 6 months ago

Hi Maria-Elena,

I had to ask for a more detailed clinical overview and perimeter about this, our colleague is currently working on it. Hopefully, we can close this ticket this month.

Best, Moi

Orphanet-ES commented 1 month ago

Dear @caterina-lucano-orphanet ,

Is there any news regarding this issue?

Kind regards,

María Elena