Statement of Principles concerning Marfan syndrome (Reasonable Hypothesis) (No. 51 of 2023)

The instrument organises its legal effect around a small set of core concepts: the clinical definition of Marfan syndrome for claims purposes, the inclusion of death from Marfan syndrome, the statutory test of a “reasonable hypothesis”, a closed list of qualifying factors that will raise that hypothesis, the requirement of a connection to relevant service, and cross‑reference to other Statements where factors invoke other diseases.

Definition of Marfan syndrome: The instrument gives a substantive definition for claims purposes: “a genetic disorder of connective tissue that typically involves abnormalities of the eyes, bones, heart and blood vessels” (s 7(2)). It expressly notes that although Marfan syndrome attracts ICD‑10‑AM code Q87.4, the meaning of Marfan syndrome for this instrument is the definition in s 7(2) (s 7(3)-(4)). This establishes that the Statement’s working definition controls, rather than an ICD code alone.

Death from Marfan syndrome: Death is included where the person’s Marfan syndrome “contributed to” a terminal event or condition (s 7(5)). The term terminal event is defined in the Schedule to include proximate or ultimate causes such as pneumonia, respiratory failure, cardiac arrest, circulatory failure or cessation of brain function (Schedule 1). Thus causation for death requires contribution by Marfan syndrome to one of those kinds of terminal events.

Reasonable hypothesis and qualifying factors: The statute‑authorised function of a Statement of Principles is to set the factors that, if present and related to relevant service, will raise a reasonable hypothesis connecting the injury or disease to service. This instrument lists two factors; at least one must exist to raise a reasonable hypothesis (s 9). The factors are deliberately narrow in enumeration: (1) pregnancy before clinical worsening of Marfan syndrome (s 9(1)); and (2) inability to obtain appropriate clinical management for Marfan syndrome (s 9(2)). The instrument therefore operationalises the reasonable hypothesis threshold by providing factual predicates that adjudicators are to treat as sufficient to meet that threshold if they are present and service‑related.

Relationship to service and scope limitation: Section 10(1) requires that any factor from s 9 must be related to the person’s relevant service. Section 10(2) narrows the application of s 9 factors to "material contribution to, or aggravation of, Marfan syndrome" where the person’s Marfan syndrome was suffered or contracted before or during, but did not arise out of, relevant service. Thus the Statement is not directed at Marfan that arose out of service; it is directed at pre‑existing or contemporaneous Marfan that is materially contributed to or aggravated by service-related factors identified in s 9.

Interaction with other Statements: If a s 9 factor refers to an injury or disease already the subject of another Statement, then the factors in that other Statement are to apply (s 11). This modular architecture allows cross‑referencing where, for example, "inability to obtain appropriate clinical management" may implicate a different medical condition with its own evidentiary factors, in which case adjudicators must consult and apply that other Statement as in force.

Statutory provenance and applicability: The instrument is an RMA determination under s 196B(2) of the VEA (s 3), and it applies to claims to which s 120A of the VEA or s 338 of the MRCA applies (s 5). The Schedule defines “relevant service” expansively to include operational, peacekeeping, hazardous, British nuclear test defence service under the VEA and warlike and non‑warlike service under the MRCA (Schedule 1). The RMA’s view that there is sound medical‑scientific evidence linking Marfan to relevant service is recorded in s 8; the Statement is therefore presented as evidence‑based guidance for decision‑makers under the VEA/MRCA framework.

Primary individuals affected by this Statement are persons who have Marfan syndrome or those whose death is alleged to have been contributed to by Marfan syndrome, where the person has relevant service as defined in the instrument. The instrument applies to claims to which section 120A of the VEA or section 338 of the MRCA applies (s 5). Schedule 1 defines “relevant service” to include operational service, peacekeeping service, hazardous service, British nuclear test defence service under the VEA, and warlike and non‑warlike service under the MRCA (Schedule 1). Consequently, the population most directly affected are veterans and serving members who rendered the listed classes of service and either had Marfan syndrome before or during service or whose terminal event is alleged to have been contributed to by Marfan syndrome.

Decision‑makers and administrators under the VEA and MRCA are secondarily affected because this Statement prescribes which medical‑scientific factors raise a reasonable hypothesis of service connection and therefore frame initial causal findings. The Repatriation Medical Authority (RMA) is the instrument‑maker (s 3) and the RMA’s formal view that there is sound medical‑scientific evidence linking Marfan to relevant service is recorded (s 8). While the Statement itself does not make benefits decisions, its factors are evidentiary predicates that Veterans’ Affairs decision‑makers, medical officers, reviewers and tribunals will use in assessing claims.

Medical practitioners, who provide the clinical records and expert opinions used to satisfy or refute the s 9 factors, are affected functionally because the Statement identifies the specific clinical facts that are material for adjudication,pregnancy before clinical worsening, and inability to obtain appropriate clinical management (s 9). Those clinical facts must be described, dated and related to service in clinical records if they are to be relied on.

Other stakeholders include representatives and advocates, who will need to marshal relevant medical and service records to show that at least one s 9 factor existed and was related to relevant service (s 9 and s 10). The Schedule’s definition of “terminal event” (Schedule 1) affects how deaths are pleaded and evidenced: decision‑makers will look for evidence that Marfan syndrome contributed to a listed type of terminal event.

Finally, the instrument affects the legal operation of other Statements of Principles because s 11 requires that where a s 9 factor refers to an injury or disease governed by another Statement, the other Statement’s factors apply as in force. That means practitioners must track potentially overlapping Statements when a factor invokes another condition.

This Statement does not itself create entitlement, make a compensation decision, or specify payments. It is an evidentiary statement to be applied within the VEA/MRCA claims process (s 3, s 5). The instrument does not set out appeal routes, administrative practices, or medical standards, but it materially influences what evidence is necessary to raise a reasonable hypothesis that Marfan syndrome or death from it is related to relevant service.

The Statement creates no direct statutory duties in the form of obligations on private parties; instead, it prescribes the factual thresholds that must be met to raise a reasonable hypothesis that Marfan syndrome or death from Marfan syndrome is related to relevant service. Practically, the key operative duties and rights arise through the interplay between the Statement and the VEA/MRCA decision‑making framework into which it is inserted.

Duty of RMA to provide Statement: The instrument is a determination made by the Repatriation Medical Authority under s 196B(2) of the VEA (s 3). That is an exercise of the RMA’s statutory role to determine Statements of Principles. The RMA records its view that there is sound medical‑scientific evidence of a link between Marfan syndrome (and death from it) and relevant service (s 8).

Operational duty for decision‑makers: Decision‑makers charged with determining claims under s 120A of the VEA or s 338 of the MRCA are required by the statutory framework (not reproduced here) to have regard to Statements of Principles when assessing causation. Within that operational duty, this instrument supplies the facts which, if present and service‑related, satisfy the reasonable hypothesis threshold. Section 9 sets the minimum factual content to be proved: at least one of the listed factors must exist to raise the reasonable hypothesis.

Claimant’s evidential right: Claimants have the right to advance evidence that a s 9 factor existed and was related to their relevant service (s 9 and s 10). For deaths, claimants may assert that Marfan syndrome contributed to a terminal event or condition as defined in the Schedule (s 7(5) and Schedule 1), which raises the need to produce medical records and death certificates that demonstrate contribution to a terminal event.

Limits on applicability: Section 10(2) circumscribes when the s 9 factors operate: they apply only to material contribution to, or aggravation of, Marfan syndrome where the syndrome was suffered or contracted before or during (but did not arise out of) the person’s relevant service. That places an evidential boundary that claimants must meet to invoke the s 9 factors. It also means that for Marfan that is alleged to have arisen out of service, the s 9 factors are not the operative predicates for raising a reasonable hypothesis of service connection under this Statement.

Cross‑Statement interaction: If a s 9 factor refers to an injury or disease addressed in another Statement, then the other Statement’s factors apply as in force (s 11). Practitioners therefore have a right to require adjudicators to apply the relevant other Statement where parties’ submissions invoke cross‑referenced conditions.

No penalties in the Statement: The instrument itself contains no penalty provisions, criminal sanctions or monetary assessments. It is an evidentiary tool; any rights to benefits, and duties to pay or to adjudicate, derive from the VEA and MRCA provisions under which claims are made (see s 3 and s 5).

In short, the instrument defines what facts will be treated as sufficient to raise a reasonable hypothesis in Marfan‑related claims, the conditions under which those facts operate in relation to service, and how cross‑references to other Statements must be handled. The duties and rights it creates are primarily evidentiary and procedural within the VEA/MRCA claims processes rather than imposing standalone obligations on private actors.

The Statement of Principles instrument does not itself create civil or criminal penalties, nor does it prescribe enforcement mechanisms. It is a medical‑scientific instrument made by the Repatriation Medical Authority under subsection 196B(2) of the VEA (s 3). Its legal force is evidentiary: it identifies the factors which, if present and related to relevant service, will raise a reasonable hypothesis that Marfan syndrome or death from it is connected to service (s 9 and s 10).

Enforcement in the sense of benefits, payments, or sanctions does not follow directly from this instrument. Instead, application of the Statement will affect how decision‑makers administer claims under the VEA and MRCA. The instrument applies to claims to which s 120A of the VEA or s 338 of the MRCA applies (s 5). Those Acts, and the decision‑making and review processes they create, provide the statutory mechanisms by which benefits may be awarded, refused, or reviewed. This instrument supplies medical factors that feed into those processes; it does not itself direct benefits.

Because the instrument contains no penalty sections, it does not authorise the imposition of fines, imprisonment, or administrative penalties for non‑compliance. Compliance here is the evidential and procedural obligation on parties and decision‑makers to identify, produce and consider the factors listed when testing whether a reasonable hypothesis has been raised. Failure by a party to produce evidence of a s 9 factor will have evidentiary consequences in a claim determination, but those are consequences within the adjudicative process rather than statutory penalties imposed by this instrument.

The RMA’s statement that there is sound medical‑scientific evidence linking Marfan to relevant service (s 8) is presented as a factual foundation for the factors. The instrument does not create investigatory powers or enforcement powers for the RMA beyond its role in making Statements under the VEA. Nor does it set administrative timelines, directions to agencies, or processes for requiring medical records; such practical enforcement or compliance mechanisms typically exist in the VEA/MRCA administrative framework, which is outside the text of this instrument.

Practitioners should therefore recognise that the instrument is binding as a Statement of Principles for the relevant claims processes but that enforcement of its application will occur through the broader VEA/MRCA claim, review and appeal pathways, not through penalty clauses contained in the instrument itself.

This Statement is an RMA determination made under subsection 196B(2) of the VEA (s 3), and it expressly applies to claims under particular provisions of two statutes: section 120A of the VEA and section 338 of the MRCA (s 5). Therefore its interaction with other laws is mainly as a subordinate, evidentiary instrument that sits within the VEA/MRCA claim frameworks.

Operative statutory interface: The Statement’s primary legal role is as an evidentiary repository of medical‑scientific factors which decision‑makers under the VEA and MRCA are to apply when assessing causation. The instrument itself records the RMA’s view that “there is sound medical‑scientific evidence” linking Marfan syndrome and death from Marfan syndrome to relevant service (s 8). The exact legal consequence of a Statement’s factors,how they alter the burden and standard of proof in a claim, how they are weighed against other evidence, and how they interact with statutory presumptions or other causation tests,derives from the VEA and MRCA decision‑making provisions themselves, not from this instrument.

Cross‑Statement interaction: Section 11 creates a specific interaction rule with other Statements of Principles. If a s 9 factor refers to an injury or disease that is the subject of another Statement made under subsection 196B(2) of the VEA, then the factors in that other Statement apply as in force. This means the instrument does not operate in isolation where overlapping medical issues exist; it requires the application of the other Statement’s factors to the extent relevant. Practically, that can bring in additional medical factors or definitions from other Statements and requires claim handlers to consult multiple Statements as necessary.

ICD‑10‑AM and definitional interaction: The instrument mentions the ICD‑10‑AM coding system, noting that while Marfan syndrome attracts ICD‑10‑AM code Q87.4, the meaning of Marfan syndrome for the purposes of the Statement is the definition in s 7(2) (s 7(3)-(4)). The instrument therefore clarifies that ICD coding will not displace its statutory definition. This is an internal definitional hierarchy applicable when medical coding and the Statement’s wording might otherwise conflict.

Definitions of relevant service and terminal event: Schedule 1 defines “relevant service” by reference to service categories defined under the VEA and MRCA (Schedule 1). It also defines “terminal event” for death‑related causation (Schedule 1). These definitions enable the Statement to interface with the statutory terms used in the VEA and MRCA without repeating the substantive provisions of those Acts.

Non‑exhaustive interaction: The instrument does not purport to exhaustively govern all causation questions for Marfan syndrome. It limits its purview to specified factors and the circumstances in which they operate (s 9 and s 10). Other relevant law,administrative law principles, procedural rules in the VEA and MRCA, privacy laws affecting medical records, or evidentiary rules in review tribunals,will interact with this Statement at the point of claim consideration and review; the instrument itself does not address those peripheral legal regimes.

Transitional and repeal interaction: The instrument repeals the earlier Statement No. 25 of 2015 (s 4). The substantive legal question of which Statement applies to a given claim turns on the commencement date and any transitional directions in the VEA/MRCA administrative practice, which this instrument does not specify. Practitioners must be alert to the repeal and commencement dates (s 2 and s 4) when dealing with claims straddling the repeal.

In sum, the Statement functions as a medical‑scientific input into the VEA/MRCA statutory claims architecture, explicitly cross‑referencing other RMA Statements where factors invoke other diseases (s 11), and defining key terms for use in that administrative context (s 7 and Schedule 1).

This instrument is numbered No. 51 of 2023 and is dated 24 April 2023 (front matter). It commenced operation on 23 May 2023 (s 2). Section 4 records a single direct amendment action: repeal of the previous Statement of Principles concerning Marfan syndrome No. 25 of 2015 (Federal Register of Legislation No. F2014L01835) made under subsection 196B(2) of the VEA (s 4). The instrument therefore serves as the successor Statement to No. 25 of 2015.

The instrument contains no schedule of multiple amendments, no transitional provisions, and no express savings clauses. It does not provide guidance in the body of the instrument about claims made before the commencement date or about how previously decided claims are to be treated in light of the repeal. The only explicit historical data in the text are the identity of the repealed Statement (No. 25 of 2015, Federal Register No. F2014L01835), and the RMA’s affixing of its common seal, signed by Professor Terence Campbell AM as Chairperson (front matter).

Because the instrument repeals a prior Statement, it operationally replaces the RMA’s earlier factors for Marfan syndrome with the factors specified here (s 4). The instrument includes its own definitions and factors; any changes between the repealed instrument and this instrument must be ascertained by direct comparison of the two texts. The present instrument does not summarise differences or explain reasons for changes beyond the RMA’s general assertion that “there is sound medical‑scientific evidence” linking Marfan syndrome and death from it to relevant service (s 8). The explanatory record within the instrument is therefore limited to the RMA’s formal view; it does not set out the amendment history beyond the single repeal.

No other amendments to this Statement are recorded in the text. Any further history of amendment, rescission, or replacement after this instrument’s commencement would need to be located in subsequent RMA determinations or the Federal Register. The instrument’s repeal of No. 25 of 2015 is the only explicit historical action contained in the source text.

The instrument itself contains no record of litigation. It does not cite any judicial decisions, tribunal determinations, or precedential cases. The text is a statutory instrument made by the Repatriation Medical Authority under s 196B(2) of the VEA (s 3) and does not include a litigation history or any reference to judicial consideration of its contents.

Because the instrument is silent on litigation, it does not disclose whether any decisions under the earlier Statement (No. 25 of 2015) were litigated or whether the new Statement has been subject to judicial review or challenge since its commencement. The instrument also does not state whether the RMA’s stated view that there is “sound medical‑scientific evidence” (s 8) has previously been judicially examined. Practitioners should note that the absence of litigation references in the Statement does not mean there has been no case law; it only reflects the content of the instrument itself.

Where litigation does occur in the VEA/MRCA context, courts and tribunals may be asked to review administrative decisions that applied a Statement of Principles. This instrument provides the factors that would be used by decision‑makers; any judicial or tribunal examination would focus on whether the decision‑maker correctly applied the relevant law and the Statement’s factors in the assessment of causation and on the adequacy of evidentiary findings. None of that litigation context is present within the text; the instrument records no adjudicative history or precedent.

For this reason, the instrument’s text is not a source for litigation outcomes or procedural rulings. Anyone needing to understand how courts or tribunals have interpreted Statements of Principles generally, or this Marfan Statement specifically, would need to search external judicial and tribunal databases. That inquiry is outside the information contained in the present instrument, which provides only the determinations, definitions and factors listed in its body and Schedule.

This instrument contains a number of features and constraints that can produce practical pitfalls for claimants, representatives and decision‑makers. These are textual and procedural constraints that derive from the instrument’s phrasing and the statutory framework into which it fits.

Narrow numeration of factors: Section 9 lists only two factors, and it requires that at least one of them must exist before a reasonable hypothesis is raised. Because the Statement provides a closed list in s 9, evidentiary strategies that rely on other possible aggravating or contributing events will not be supported by this Statement unless they can be framed as one of the enumerated factors, or as part of another Statement that is cross‑referenced under s 11. Practitioners should not assume that clinical phenomena outside the two factors will be treated as raising a reasonable hypothesis under this particular Statement.

Definition overrides coding: Although the instrument notes the ICD‑10‑AM code Q87.4 applies to Marfan syndrome, it expressly provides its own definitional meaning for Marfan syndrome in s 7(2) and states that the meaning of Marfan syndrome is that given in s 7(2) (s 7(3)). Users should therefore not rely on ICD coding alone to satisfy the instrument’s definitional requirement; the textual definition in s 7(2) governs.

Scope limitation for pre‑existing disease: Section 10(2) limits the operation of s 9 factors to cases of material contribution to, or aggravation of, Marfan syndrome where the syndrome was suffered or contracted before or during, but did not arise out of, relevant service. That means that if a claimant’s Marfan is alleged to have arisen out of service, the s 9 factors are not operative for establishing material contribution or aggravation under this Statement. Claims that assert Marfan was caused by service will require attention to other parts of the VEA/MRCA framework or to other Statements, if applicable.

Ambiguity of “inability to obtain appropriate clinical management”: The phrase in s 9(2) is not defined within this instrument. What constitutes “appropriate clinical management” and how inability to obtain it will be evidenced or assessed is therefore potentially open to interpretation by decision‑makers. That ambiguity may create disputes over the standard against which medical care availability is measured (for example, local clinical standards, access to specialists, or timing delays). Where a s 9 factor refers to an injury or disease covered by another Statement, s 11 requires application of that other Statement’s factors, which may assist in clarifying standards; otherwise, claimants will need to marshal clinical records and contextual evidence to demonstrate the asserted inability.

Pregnancy timing and “clinical worsening”: Section 9(1) requires pregnancy before the clinical worsening of Marfan syndrome. That creates a timing and clinical‑course evidentiary requirement: the claimant must establish the temporal order and the clinical worsening. If records do not clearly document onset dates or objective measures of worsening, the claim may founder on evidentiary insufficiency.

Death causation requires contribution to a terminal event: For death claims, s 7(5) includes death from Marfan syndrome only where Marfan contributed to a terminal event or condition. The Schedule lists particular terminal events (pneumonia, respiratory failure, cardiac arrest, circulatory failure, cessation of brain function). Claims that attribute death to intermediate causes not fitting the Schedule’s examples, or where the chain of causation is contested, will need careful evidentiary construction to show contribution to a recognised terminal event.

Cross‑Statement complexity: Section 11’s cross‑reference can produce complexity where a s 9 factor refers to another disease. Practitioners must locate and apply the other Statement as in force. Failure to identify and apply a relevant other Statement could lead to incomplete submissions or misapplication by decision‑makers.

Replaced prior Statement without transitional text: The instrument repeals the 2015 Statement (s 4) but does not provide transitional arrangements or state how claims outstanding at commencement are to be treated. That absence can create uncertainty in borderline cases about which Statement a decision‑maker should apply to prevously lodged claims. Administrative guidance outside this instrument may exist, but it is not contained within the text.

No enforcement or penalty text: Because the instrument is an evidentiary Statement, it contains no enforcement mechanisms or penalties (see Penalties section). Parties must therefore rely on the broader VEA/MRCA statutes and administrative procedures for remedy and enforcement.

These “gotchas” are textual and procedural features derived directly from the Statement’s wording. They point to areas where evidentiary preparation and precise pleadings are most likely to be critical: demonstrating timing and clinical worsening, establishing service‑related inability to access appropriate clinical management, and identifying any relevant cross‑referenced Statements.

Compliance with this Statement is chiefly evidentiary and procedural: practitioners and claimants must present the factual material the Statement requires in order to raise a reasonable hypothesis that Marfan syndrome, or death from it, is related to relevant service.

1. Identify the claim framework and applicable Statement

• Confirm that the claim is one to which section 120A of the VEA or section 338 of the MRCA applies (s 5). The Statement only applies to claims within those statutory provisions. Note the instrument commenced on 23 May 2023 and repealed the previous 2015 Statement (s 2, s 4); ensure the correct Statement is being relied on for the relevant claim period.

2. Establish the medical diagnosis as defined by the Statement

• The instrument defines Marfan syndrome for its purposes (s 7(2)). Ensure clinical records, genetic testing, specialist observations or other evidence are framed against that definitional language: a genetic disorder of connective tissue involving abnormalities of eyes, bones, heart and blood vessels. While an ICD‑10‑AM code (Q87.4) is noted, the Statement’s textual definition controls (s 7(3)-(4)).

3. Prove at least one s 9 factor and its timing relative to service

• At least one of the factors in s 9 must exist to raise a reasonable hypothesis: (1) pregnancy before the clinical worsening of Marfan syndrome (s 9(1)); or (2) inability to obtain appropriate clinical management for Marfan syndrome (s 9(2)). Compile contemporaneous medical records, obstetric records, clinic notes, specialist letters, referral records, surgical histories, diagnostic imaging and genetic reports that document the clinical course and timing.
• For pregnancy claims, establish dates of pregnancy and objective records of clinical worsening thereafter. For management access claims, document referrals, wait lists, correspondence with health providers, evidence of service‑related barriers to access, and any contemporaneous complaints or official medical evacuation/transfer requests.

4. Show the factor is related to relevant service

• Section 10(1) requires that any s 9 factor be related to the person’s relevant service. Schedule 1 defines relevant service categories. To comply, gather service records, deployment histories, postings, medical evacuation records, and testimony about service conditions that demonstrate how the factor is connected to the service period or conditions.

5. Observe the scope limitation in s 10(2)

• The s 9 factors apply only to material contribution to, or aggravation of, Marfan syndrome where the syndrome was suffered or contracted before or during, but did not arise out of, relevant service (s 10(2)). Therefore, clearly establish whether the claimant’s Marfan pre‑existed or was present during service; if the medical history indicates Marfan arose out of service, the s 9 factors under this Statement will not be the appropriate evidentiary route.

6. Where a factor refers to another disease, apply the other Statement

• If a s 9 factor refers to an injury or disease that is the subject of another Statement of Principles, s 11 mandates that the other Statement’s factors apply as in force. Identify any cross‑referenced Statements and adduce evidence that meets their requirements as well.

7. Deal with death claims by linking Marfan to a terminal event

• For death claims, produce cause of death documentation, coronial findings where available, hospital records and expert reports that demonstrate Marfan syndrome contributed to a terminal event as defined in the Schedule (pneumonia, respiratory failure, cardiac arrest, circulatory failure, cessation of brain function) (s 7(5) and Schedule 1). Show a causal contribution by Marfan to the terminal event.

8. Prepare evidence for contested standards (e.g. “appropriate clinical management”)

• Because “appropriate clinical management” is not defined, prepare evidence that elucidates the standard: clinical guidelines, specialist opinions as to what management would have been appropriate, proof of local availability of services, timelines for access, and records demonstrating denial or absence of those services during the relevant period.

9. Maintain chronological clarity

• Because the Statement’s factors and applicability hinge on sequences (pregnancy before worsening; Marfan before/during but not arising out of service), compile records in chronological order and produce a timeline linking medical events to service periods.

10. Expect cross‑checking by decision‑makers

• Decision‑makers will test whether at least one s 9 factor exists and is service‑related (s 9 and s 10). Be prepared to respond to requests for further medical evidence, clarifications on timing, and to identify any other Statements implicated by s 11.

The Statement does not set out procedural steps for lodging claims, time limits for evidence, or appeal pathways. Those procedures are governed by the VEA and MRCA and by the administrative practice of the relevant authorities. This Statement prescribes the medical facts that need to be proved; compliance requires assembling and submitting medical and service records that demonstrate the existence and service‑relatedness of at least one s 9 factor, subject to the scope limitations in s 10(2).